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
FBXO21	23014	broad.mit.edu	37	12	117627076	117627076	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:117627076G>A	ENST00000427718.2	-	2	405	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	FBXO21_ENST00000330622.5_Missense_Mutation_p.R111W	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	111					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ACAATCTTCCGCGCTTCTAAC	0.483000													4	96					0	0	0.009096	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125840	8125840	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:8125840C>T	ENST00000223145.5	+	8	1873	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	439										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CAGCCTATCTCGGCCCCTCTC	0.388000													13	221					0	0	0.001855	0	0
ZNF716	441234	broad.mit.edu	37	7	57522865	57522865	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:57522865A>C	ENST00000420713.1	+	3	365	c.253A>C	c.(253-255)Aaa>Caa	p.K85Q		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATGGTAGCCAAACACCCAGG	0.443000													7	113					0	0	0.003080	0	0
IGSF10	285313	broad.mit.edu	37	3	151166715	151166715	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:151166715T>C	ENST00000282466.3	-	4	1053	c.1054A>G	c.(1054-1056)Atc>Gtc	p.I352V		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	352					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)			TTTAGCACGATGTAGTCATTT	0.398000													26	52					0	0	0.003330	0	0
TSPAN14	81619	broad.mit.edu	37	10	82269158	82269158	+	Silent	SNP	C	C	T	rs145582053	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:82269158C>T	ENST00000429989.2	+	5	604	c.381C>T	c.(379-381)ttC>ttT	p.F127F	TSPAN14_ENST00000372158.1_Silent_p.F127F|TSPAN14_ENST00000372156.1_Silent_p.F127F|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000372164.3_Silent_p.F110F	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	127						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGGAGTTCTTCGAGAGCAACA	0.582000													6	51					0	0	0.001984	0	0
ACCSL	390110	broad.mit.edu	37	11	44073208	44073208	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:44073208G>A	ENST00000378832.1	+	5	767	c.711G>A	c.(709-711)gtG>gtA	p.V237V		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	237							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTCAGGTGGTGGTTCTAAATG	0.517000													5	209					0	0	0.001168	0	0
FN1	2335	broad.mit.edu	37	2	216284069	216284069	+	Missense_Mutation	SNP	A	A	T	rs150405747		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:216284069A>T	ENST00000354785.4	-	12	2084	c.1715T>A	c.(1714-1716)aTt>aAt	p.I572N	FN1_ENST00000446046.1_Missense_Mutation_p.I572N|FN1_ENST00000443816.1_Missense_Mutation_p.I572N|FN1_ENST00000432072.2_Missense_Mutation_p.I572N|FN1_ENST00000421182.1_Missense_Mutation_p.I572N|FN1_ENST00000359671.1_Missense_Mutation_p.I572N|FN1_ENST00000357867.4_Missense_Mutation_p.I572N|FN1_ENST00000357009.2_Missense_Mutation_p.I572N|FN1_ENST00000356005.4_Missense_Mutation_p.I572N|FN1_ENST00000323926.6_Missense_Mutation_p.I572N|FN1_ENST00000346544.3_Missense_Mutation_p.I572N|FN1_ENST00000345488.5_Missense_Mutation_p.I572N|FN1_ENST00000336916.4_Missense_Mutation_p.I572N|FN1_ENST00000426059.1_Missense_Mutation_p.I572N			P02751	FINC_HUMAN	fibronectin 1	572	Collagen-binding.|Fibronectin type-I 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAATCTCCAATTTGATAAAA	0.418000													14	34					0	0	0.004007	0	0
NAPA	8775	broad.mit.edu	37	19	47996260	47996260	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:47996260C>T	ENST00000263354.3	-	7	818	c.519G>A	c.(517-519)gcG>gcA	p.A173A	NAPA_ENST00000595227.1_Silent_p.A134A|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	173					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GCTCCAGCAGCGCAGCGTAAC	0.642000													6	88					0	0	0.001984	0	0
SLC23A2	9962	broad.mit.edu	37	20	4864369	4864369	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr20:4864369G>A	ENST00000379333.1	-	9	1135	c.743C>T	c.(742-744)aCa>aTa	p.T248I	SLC23A2_ENST00000338244.1_Missense_Mutation_p.T248I|SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	248					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACCGTGGGTGTAATGGTCAA	0.582000													4	78					0	0	0.009096	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229437	90229437	+	RNA	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:90229437G>T	ENST00000390278.2	+	0	277																											AGGTTCAGTGGCAGGGGATCT	0.478000													38	46					3.93418e-24	4.67184e-24	0.004289	1	0
DNAH11	8701	broad.mit.edu	37	7	21627788	21627788	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:21627788G>A	ENST00000328843.6	+	10	1848	c.1817G>A	c.(1816-1818)tGt>tAt	p.C606Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.C606Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	606	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGATGTGTGTAAGCAACTG	0.368000									Kartagener syndrome				5	37					0	0	0.000602	0	0
DEDD2	162989	broad.mit.edu	37	19	42720875	42720875	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:42720875G>A	ENST00000595337.1	-	2	372	c.285C>T	c.(283-285)cgC>cgT	p.R95R	DEDD2_ENST00000598727.1_Silent_p.R95R|DEDD2_ENST00000596251.1_Silent_p.R95R|DEDD2_ENST00000336034.4_Silent_p.R95R|DEDD2_ENST00000593804.1_Intron	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	95	DED.				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GCAGGTCGTGGCGGGCCAGCA	0.716000													10	11					0	0	0.006214	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643886	37643886	+	Silent	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:37643886T>C	ENST00000356958.4	-	5	1173	c.915A>G	c.(913-915)aaA>aaG	p.K305K	ZNF585A_ENST00000292841.5_Silent_p.K250K|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.K250K|ZNF585A_ENST00000355533.2_Silent_p.K250K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAATGAAGGATTTGCCACAGT	0.418000													92	142					0	0	0.014410	0	0
EPHA5	2044	broad.mit.edu	37	4	66467472	66467472	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:66467472G>C	ENST00000273854.3	-	3	1397	c.797C>G	c.(796-798)tCt>tGt	p.S266C	EPHA5_ENST00000511294.1_Missense_Mutation_p.S266C|EPHA5_ENST00000354839.4_Missense_Mutation_p.S266C|EPHA5_ENST00000432638.2_Missense_Mutation_p.S266C	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	266	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCGGTCACAGAATGGTTGAC	0.527000										TSP Lung(17;0.13)			23	32					0	0	0.002780	0	0
GPR153	387509	broad.mit.edu	37	1	6314150	6314150	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:6314150G>A	ENST00000377893.2	-	3	673	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	138						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACAGGATGAAGGACACCATCC	0.622000													28	56					0	0	0.004656	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708521	108708521	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:108708521G>A	ENST00000218006.2	-	3	1173	c.882C>T	c.(880-882)ccC>ccT	p.P294P		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	294					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGACCCGGTAGGGGGTGTGCT	0.463000													4	88					0	0	0.009096	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904678	73904678	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:73904678C>T	ENST00000342056.2	+	15	2795	c.2397C>T	c.(2395-2397)gtC>gtT	p.V799V	KCNQ5_ENST00000403813.2_Silent_p.V771V|KCNQ5_ENST00000355194.4_Silent_p.V780V|KCNQ5_ENST00000370398.1_Silent_p.V780V|KCNQ5_ENST00000402622.2_Silent_p.V790V|KCNQ5_ENST00000355635.3_Silent_p.V781V|KCNQ5_ENST00000414165.2_Silent_p.V670V	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	780				T -> P (in Ref. 6; AAF73446).	protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTTCTGACGTCACCACCTGCC	0.507000													7	39					0	0	0.004482	0	0
GCK	2645	broad.mit.edu	37	7	44187278	44187278	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:44187278G>A	ENST00000403799.3	-	7	1303	c.834C>T	c.(832-834)gaC>gaT	p.D278D	GCK_ENST00000345378.2_Silent_p.D279D|GCK_ENST00000437084.1_Silent_p.D261D|GCK_ENST00000395796.3_Silent_p.D277D	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	278					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CAGAGCTCTCGTCCACCAGGC	0.687000													36	38					0	0	0.006230	0	0
IQCH	64799	broad.mit.edu	37	15	67757466	67757466	+	Splice_Site	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:67757466T>C	ENST00000335894.4	+	17	2573	c.2505_splice	c.e17-1	p.V836_splice	IQCH_ENST00000360277.4_Splice_Site_p.V497_splice|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Splice_Site_p.V493_splice|IQCH_ENST00000358767.3_Splice_Site_p.V572_splice	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	836										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTTAATCAGGTGTGGGCAACC	0.517000													5	80					0	0	0.000602	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33400552	33400552	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:33400552C>T	ENST00000418600.2	+	5	579	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.L101L|SYNGAP1_ENST00000293748.5_Silent_p.L160L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	160	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCGCCAGATCCTGCCTCGCTT	0.557000													20	29					0	0	0.008871	0	0
FLNB	2317	broad.mit.edu	37	3	58111419	58111419	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:58111419G>T	ENST00000357272.4	+	23	4175	c.4010G>T	c.(4009-4011)gGa>gTa	p.G1337V	FLNB_ENST00000348383.5_Missense_Mutation_p.G1337V|FLNB_ENST00000295956.4_Missense_Mutation_p.G1337V|FLNB_ENST00000490882.1_Missense_Mutation_p.G1337V|FLNB_ENST00000358537.3_Missense_Mutation_p.G1337V|FLNB_ENST00000419752.2_Missense_Mutation_p.G1168V|FLNB_ENST00000493452.1_Missense_Mutation_p.G1168V|FLNB_ENST00000429972.2_Missense_Mutation_p.G1337V			O75369	FLNB_HUMAN	filamin B, beta	1337	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAAGGACCTGGATTGAAAGAG	0.522000													36	34					9.04072e-19	1.05559e-18	0.003271	1	0
TLR6	10333	broad.mit.edu	37	4	38830188	38830188	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:38830188T>C	ENST00000436693.2	-	2	1026	c.907A>G	c.(907-909)Aca>Gca	p.T303A	TLR6_ENST00000381950.1_Missense_Mutation_p.T303A	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	303					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTTTCAATGTCGTTTTAGAA	0.318000													10	11					0	0	0.006214	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227082	43227082	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:43227082G>A	ENST00000332499.2	+	1	2399	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	175	Basic region; mediates nuclear localization and interaction with 7SK snRNA and NR3C1.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGAAGAGAAGAAAAAGTTCG	0.547000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	63					0	0	0.010818	0	0
RPL23	9349	broad.mit.edu	37	17	37008939	37008939	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:37008939C>T	ENST00000479035.2	-	3	276	c.144G>A	c.(142-144)cgG>cgA	p.R48R	RPL23_ENST00000577407.1_Silent_p.R48R|RPL23_ENST00000394332.1_Silent_p.R48R|RPL23_ENST00000394333.1_Silent_p.R48R|RPL23_ENST00000245857.5_5'UTR	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	48					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						GTCTGTTCAGCCGTCCCTTGA	0.473000													38	49					0	0	0.006999	0	0
POLR1E	64425	broad.mit.edu	37	9	37486777	37486777	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:37486777C>T	ENST00000377792.3	+	1	628	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	POLR1E_ENST00000377798.4_Missense_Mutation_p.P52S|POLR1E_ENST00000442009.2_5'UTR			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	114					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TTCCACCAACCCCAGGAAGAG	0.537000													6	47					0	0	0.001168	0	0
SPAG6	9576	broad.mit.edu	37	10	22699991	22699991	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:22699991T>A	ENST00000376603.2	+	10	1716	c.1574T>A	c.(1573-1575)cTt>cAt	p.L525H	SPAG6_ENST00000376624.3_Missense_Mutation_p.L449H|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000538630.1_Missense_Mutation_p.L424H|SPAG6_ENST00000376601.1_Missense_Mutation_p.L210H|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	449					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GCTCGACGACTTTTTGTAACA	0.378000													25	32					0	0	0.003954	0	0
OTOF	9381	broad.mit.edu	37	2	26700047	26700047	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:26700047G>A	ENST00000272371.2	-	21	2642	c.2516C>T	c.(2515-2517)gCg>gTg	p.A839V	OTOF_ENST00000403946.3_Missense_Mutation_p.A839V|OTOF_ENST00000402415.3_Missense_Mutation_p.A149V|OTOF_ENST00000339598.3_Missense_Mutation_p.A92V|OTOF_ENST00000338581.6_Missense_Mutation_p.A92V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	839					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCGTCCGCCAGGAAGCG	0.682000													3	18					0	0	0.004672	0	0
ABCC10	89845	broad.mit.edu	37	6	43406408	43406408	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:43406408C>T	ENST00000244533.3	+	6	2277	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	ABCC10_ENST00000372530.4_Silent_p.L668L	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	668	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGGCTTTGGCCTGGCCACCCA	0.592000													32	47					0	0	0.013726	0	0
BCR	613	broad.mit.edu	37	22	23523321	23523321	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr22:23523321C>T	ENST00000305877.8	+	1	925	c.174C>T	c.(172-174)taC>taT	p.Y58Y	BCR_ENST00000398512.5_Silent_p.Y58Y|BCR_ENST00000359540.3_Silent_p.Y58Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	58	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GCATGATCTACCTGCAGACGT	0.677000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								3	8					0	0	0.004672	0	0
LYRM1	57149	broad.mit.edu	37	16	20927015	20927015	+	Silent	SNP	G	G	A	rs138841536	by1000genomes	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:20927015G>A	ENST00000396052.2	+	4	538	c.138G>A	c.(136-138)acG>acA	p.T46T	LYRM1_ENST00000568663.1_Silent_p.T46T|LYRM1_ENST00000219168.4_Silent_p.T46T|LYRM1_ENST00000562740.1_Intron|LYRM1_ENST00000439021.1_Silent_p.T46T|LYRM1_ENST00000412082.2_Intron|LYRM1_ENST00000569023.1_Silent_p.T46T|LYRM1_ENST00000567954.1_Silent_p.T46T			O43325	LYRM1_HUMAN	LYR motif containing 1	46						nucleus				large_intestine(1)|prostate(1)	2						AAGCCAGAACGCTGTTCCGGA	0.423000													26	43					0	0	0.005443	0	0
GSG2	83903	broad.mit.edu	37	17	3627636	3627636	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:3627636C>T	ENST00000325418.4	+	1	426	c.407C>T	c.(406-408)cCg>cTg	p.P136L	ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	136					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CTCCGACTTCCGCCCTTCCCC	0.726000													3	5					0	0	0.009096	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229438	90229438	+	RNA	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:90229438C>T	ENST00000390278.2	+	0	278																											GGTTCAGTGGCAGGGGATCTG	0.483000													37	47					0	0	0.003755	0	0
MBD6	114785	broad.mit.edu	37	12	57919712	57919712	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:57919712A>T	ENST00000355673.3	+	6	1317	c.961A>T	c.(961-963)Agc>Tgc	p.S321C	MBD6_ENST00000431731.2_Missense_Mutation_p.S321C	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	321	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTTCCTTGCTAGCAGCCTACT	0.692000													15	27					0	0	0.004007	0	0
MSL2	55167	broad.mit.edu	37	3	135870380	135870380	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:135870380G>C	ENST00000309993.2	-	2	2075	c.1343C>G	c.(1342-1344)cCt>cGt	p.P448R	MSL2_ENST00000434835.2_Missense_Mutation_p.P374R	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	448	Lys-rich.				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						AGTCTTGGTAGGACTTCCTGG	0.423000													37	96					0	0	0.004878	0	0
ACACB	32	broad.mit.edu	37	12	109678918	109678918	+	Silent	SNP	C	C	T	rs147718391		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:109678918C>T	ENST00000338432.7	+	36	4973	c.4854C>T	c.(4852-4854)taC>taT	p.Y1618Y	ACACB_ENST00000543201.1_Silent_p.Y284Y|ACACB_ENST00000377848.3_Silent_p.Y1618Y|ACACB_ENST00000377854.5_Silent_p.Y1548Y			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1618					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTATGCGCTACGGCAGCCGGC	0.562000													4	81					0	0	0.000602	0	0
MUC4	4585	broad.mit.edu	37	3	195515017	195515017	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:195515017A>G	ENST00000463781.3	-	2	3893	c.3434T>C	c.(3433-3435)gTa>gCa	p.V1145A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1145A|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1020					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1145A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGT	0.562000													2	1					0	0	0.004672	0	0
C8orf58	541565	broad.mit.edu	37	8	22460089	22460089	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:22460089A>G	ENST00000409586.3	+	6	1015	c.895A>G	c.(895-897)Aac>Gac	p.N299D	C8orf58_ENST00000289989.5_Missense_Mutation_p.N307D	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	307										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGTCCTGCTCAACCGGATCTG	0.662000													12	27					0	0	0.001855	0	0
EFNA5	1946	broad.mit.edu	37	5	106723440	106723440	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:106723440A>G	ENST00000333274.6	-	3	732	c.451T>C	c.(451-453)Tgt>Cgt	p.C151R	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.C151R	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	151					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AGCTTTAGACAGGACCTTCTT	0.438000													10	144					0	0	0.008291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476920	110476920	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:110476920G>T	ENST00000378402.5	+	49	7963	c.7859G>T	c.(7858-7860)gGt>gTt	p.G2620V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2620					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTCTCAAGGTTGGTTTGGA	0.418000										HNSCC(38;0.096)			111	133					2.55716e-62	3.07153e-62	0.014410	1	0
IFNL3	282617	broad.mit.edu	37	19	39735130	39735130	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:39735130T>A	ENST00000413851.2	-	2	223	c.185A>T	c.(184-186)gAg>gTg	p.E62V		NM_172139.2	NP_742151.2			interferon, lambda 3																		CAGAAGCGACTCTTCCTAGAC	0.617000													3	12					0	0	0.009096	0	0
CEP152	22995	broad.mit.edu	37	15	49083442	49083442	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:49083442C>T	ENST00000380950.2	-	8	1151	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	CEP152_ENST00000325747.5_Missense_Mutation_p.E229K|CEP152_ENST00000399334.3_Missense_Mutation_p.E322K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	322					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACCTGTTCTTCATTGACTTTT	0.299000													17	41					0	0	0.004990	0	0
QPCT	25797	broad.mit.edu	37	2	37586939	37586939	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:37586939G>A	ENST00000338415.3	+	3	642	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	QPCT_ENST00000537448.1_Missense_Mutation_p.V113M	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	162					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TGATTCAGCCGTGCCATGTGC	0.443000													39	96					0	0	0.006230	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329424	88329424	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:88329424C>T	ENST00000325089.6	+	2	2000	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A353V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	594	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATCTGTAAGGCGCCCAAAAAA	0.532000													23	136					0	0	0.003954	0	0
SLC4A4	8671	broad.mit.edu	37	4	72425949	72425949	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:72425949G>T	ENST00000340595.3	+	20	3141	c.2945G>T	c.(2944-2946)aGt>aTt	p.S982I	SLC4A4_ENST00000351898.6_Missense_Mutation_p.S942I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S1026I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S1026I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1026						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			aagaagGGAAGTCTGGACAGT	0.388000													16	25					4.7546e-09	5.34254e-09	0.004007	1	0
NFIA	4774	broad.mit.edu	37	1	61920976	61920976	+	Splice_Site	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:61920976C>T	ENST00000403491.3	+	11	1998	c.1512_splice	c.e11-1	p.S505_splice	NFIA_ENST00000371184.2_Splice_Site_p.S376_splice|NFIA_ENST00000371185.2_Splice_Site_p.S483_splice|NFIA_ENST00000371187.3_Splice_Site_p.I474_splice|NFIA_ENST00000485903.2_Splice_Site_p.S462_splice|NFIA_ENST00000371189.4_Splice_Site_p.S550_splice|NFIA_ENST00000407417.3_Splice_Site_p.S497_splice|NFIA_ENST00000371191.1_Splice_Site_p.S528_splice|NFIA_ENST00000357977.5_Splice_Site_p.S153_splice	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	505					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GTCTTCCAGTCCTGGTACCTG	0.448000													4	81					0	0	0.000602	0	0
KPNA1	3836	broad.mit.edu	37	3	122145937	122145937	+	Silent	SNP	G	G	A	rs143005503		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:122145937G>A	ENST00000344337.6	-	14	1688	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	504					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CTTCGGTCCCGAAGTAATGCT	0.438000													3	57					0	0	0.009096	0	0
TRMU	55687	broad.mit.edu	37	22	46748195	46748195	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr22:46748195T>C	ENST00000290846.4	+	7	1080	c.740T>C	c.(739-741)aTa>aCa	p.I247T	TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Missense_Mutation_p.I247T	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	247						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TTTATTTCCATAGAAGACAAT	0.502000													85	133					0	0	0.014410	0	0
NOXO1	124056	broad.mit.edu	37	16	2030459	2030459	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:2030459C>T	ENST00000354249.4	-	4	676	c.307G>A	c.(307-309)Gcg>Acg	p.A103T	NOXO1_ENST00000566005.1_Missense_Mutation_p.A108T|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000397280.4_Missense_Mutation_p.A109T|NOXO1_ENST00000356120.4_Missense_Mutation_p.A104T	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	109	PX.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						TCTGCAGTCGCCAGCAGCCTC	0.682000													14	24					0	0	0.001855	0	0
NLGN1	22871	broad.mit.edu	37	3	173998698	173998698	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:173998698G>T	ENST00000457714.1	+	7	2506	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S	NLGN1_ENST00000545397.1_Missense_Mutation_p.A693S|NLGN1_ENST00000401917.3_Missense_Mutation_p.A733S|NLGN1_ENST00000361589.4_Missense_Mutation_p.A693S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	710					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GAACATCTTGGCCTTTGCAGC	0.463000													50	68					2.27781e-18	2.64479e-18	0.014410	1	0
ADCK4	79934	broad.mit.edu	37	19	41198105	41198105	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:41198105G>A	ENST00000324464.3	-	15	1771	c.1470C>T	c.(1468-1470)cgC>cgT	p.R490R	ADCK4_ENST00000450541.1_Silent_p.R449R|ADCK4_ENST00000243583.6_Silent_p.R449R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	490						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)			CTGCCAGCTTGCGGTGCAGGG	0.687000													5	7					0	0	0.001168	0	0
SYNE1	23345	broad.mit.edu	37	6	152639352	152639352	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:152639352A>T	ENST00000367255.5	-	86	17037	c.16436T>A	c.(16435-16437)tTa>tAa	p.L5479*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.L5408*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.L3*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.L5479*|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.L5408*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5479					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTGCATCTAATTCCATTAA	0.403000										HNSCC(10;0.0054)			27	19					0	0	0.003954	0	0
DPYSL3	1809	broad.mit.edu	37	5	146778660	146778660	+	Silent	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:146778660G>T	ENST00000343218.5	-	11	1805	c.1608C>A	c.(1606-1608)gcC>gcA	p.A536A	DPYSL3_ENST00000534907.1_Silent_p.A48A|DPYSL3_ENST00000398514.3_Silent_p.A422A	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	422					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTCTTGGCAGAGACGA	0.512000													7	90					9.70103e-10	1.09595e-09	0.008291	1	0
BCL11A	53335	broad.mit.edu	37	2	60688292	60688292	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:60688292G>C	ENST00000335712.6	-	4	1982	c.1755C>G	c.(1753-1755)tgC>tgG	p.C585W	BCL11A_ENST00000358510.4_Missense_Mutation_p.C551W|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.C585W|BCL11A_ENST00000537768.1_Missense_Mutation_p.C254W|BCL11A_ENST00000538214.1_Missense_Mutation_p.C551W|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	585					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGTCTTCGTCGCAAGTGTCCC	0.682000			T	IGH@	B-CLL								12	30					0	0	0.013537	0	0
C1S	716	broad.mit.edu	37	12	7177938	7177938	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:7177938A>C	ENST00000406697.1	+	15	2678	c.2050A>C	c.(2050-2052)Acc>Ccc	p.T684P	C1S_ENST00000402681.3_Missense_Mutation_p.T517P|C1S_ENST00000328916.3_Missense_Mutation_p.T684P|C1S_ENST00000360817.5_Missense_Mutation_p.T684P			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGA	0.493000													6	110					0	0	0.010729	0	0
MACF1	23499	broad.mit.edu	37	1	39920720	39920720	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:39920720C>A	ENST00000564288.1	+	89	21803	c.21026C>A	c.(21025-21027)cCa>cAa	p.P7009Q	MACF1_ENST00000567887.1_Missense_Mutation_p.P7046Q|MACF1_ENST00000317713.7_Missense_Mutation_p.P4950Q|MACF1_ENST00000289893.4_Missense_Mutation_p.P5452Q|MACF1_ENST00000545844.1_Missense_Mutation_p.P4950Q|MACF1_ENST00000539005.1_Missense_Mutation_p.P4820Q|MACF1_ENST00000372915.3_Missense_Mutation_p.P6908Q|MACF1_ENST00000361689.2_Missense_Mutation_p.P4950Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6908					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATCAGGAGCCAATCCCGCAG	0.527000													24	35					7.92952e-12	9.10588e-12	0.003954	1	0
GFPT2	9945	broad.mit.edu	37	5	179751887	179751887	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:179751887C>A	ENST00000253778.8	-	8	774	c.605G>T	c.(604-606)aGc>aTc	p.S202I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	202	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GAGCAGGGGGCTGCCTCTCCT	0.527000													36	64					9.80977e-26	1.17157e-25	0.004289	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934384	68934384	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:68934384C>G	ENST00000356291.2	-	7	766	c.707G>C	c.(706-708)aGc>aCc	p.S236T	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	236	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACTGATGAGGCTGGCTCCACA	0.522000													5	71					0	0	0.001168	0	0
TRIP11	9321	broad.mit.edu	37	14	92471192	92471192	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:92471192G>C	ENST00000267622.4	-	11	3501	c.3128C>G	c.(3127-3129)aCt>aGt	p.T1043S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1043					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)		AATCTGTTTAGTTAAAGATAT	0.318000			T	PDGFRB	AML								23	35					0	0	0.002780	0	0
PLSCR1	5359	broad.mit.edu	37	3	146251283	146251283	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:146251283G>C	ENST00000342435.4	-	3	478	c.68C>G	c.(67-69)cCt>cGt	p.P23R	PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000487389.1_Missense_Mutation_p.P16R|PLSCR1_ENST00000448787.2_Missense_Mutation_p.L15V	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	23					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGGATACTGAGGAGGATACCC	0.408000													46	67					0	0	0.014410	0	0
UNC5C	8633	broad.mit.edu	37	4	96141148	96141148	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:96141148C>T	ENST00000453304.1	-	8	1636	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T	UNC5C_ENST00000506749.1_Missense_Mutation_p.A449T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	430					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGTCTTGCTGCCTTGATGTTC	0.428000													33	79					0	0	0.003271	0	0
ATXN2	6311	broad.mit.edu	37	12	111948230	111948230	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:111948230G>T	ENST00000377617.3	-	12	2356	c.2195C>A	c.(2194-2196)gCt>gAt	p.A732D	ATXN2_ENST00000550104.1_Missense_Mutation_p.A732D|ATXN2_ENST00000535949.1_Missense_Mutation_p.A443D|ATXN2_ENST00000389153.4_Missense_Mutation_p.A467D|ATXN2_ENST00000542287.2_Missense_Mutation_p.A467D	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	732	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGCAGGACTAGCAGGCGTAGG	0.493000													12	214					0.00136819	0.00145154	0.013537	1	0
KCNQ3	3786	broad.mit.edu	37	8	133150233	133150233	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:133150233T>A	ENST00000388996.4	-	12	2019	c.1599A>T	c.(1597-1599)aaA>aaT	p.K533N	KCNQ3_ENST00000519445.1_Missense_Mutation_p.K533N|KCNQ3_ENST00000521134.1_Missense_Mutation_p.K413N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCTCCTTGAATTTTTTTTTAT	0.453000													55	107					0	0	0.014410	0	0
OAS1	4938	broad.mit.edu	37	12	113354483	113354483	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:113354483A>G	ENST00000452357.2	+	4	1014	c.824A>G	c.(823-825)tAt>tGt	p.Y275C	OAS1_ENST00000551241.1_Missense_Mutation_p.Y275C|OAS1_ENST00000202917.5_Missense_Mutation_p.Y275C|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.Y275C	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	275					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TGGACAAAGTATTATGACTTT	0.443000													39	46					0	0	0.010771	0	0
PINK1	65018	broad.mit.edu	37	1	20971032	20971032	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:20971032C>T	ENST00000321556.4	+	4	920	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	276	Protein kinase.		R -> Q.		cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAACATCATCCGGGTTCTCCG	0.592000													8	126					0	0	0.004482	0	0
NLRP14	338323	broad.mit.edu	37	11	7081273	7081273	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:7081273A>T	ENST00000299481.4	+	9	3128	c.2782A>T	c.(2782-2784)Agc>Tgc	p.S928C		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	928					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCGGCATCCAAGCTGTAATCT	0.433000													60	115					0	0	0.014410	0	0
LPCAT3	10162	broad.mit.edu	37	12	7086775	7086775	+	Silent	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:7086775A>T	ENST00000261407.4	-	10	1258	c.1173T>A	c.(1171-1173)gtT>gtA	p.V391V	U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	391					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TTTCCACAATAACAATGAGGA	0.547000													47	63					0	0	0.014410	0	0
NACA	4666	broad.mit.edu	37	12	57113764	57113764	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:57113764T>C	ENST00000454682.1	-	3	1831	c.1550A>G	c.(1549-1551)aAt>aGt	p.N517S	NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.N517S|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ACTGGGGAGATTTTTGAGGTC	0.498000			T	BCL6	NHL								31	60					0	0	0.007291	0	0
RAD51D	5892	broad.mit.edu	37	17	33445520	33445520	+	Translation_Start_Site	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:33445520C>A	ENST00000460118.2	-	0	365				RAD51D_ENST00000360276.3_Splice_Site_p.S88_splice|RAD51D_ENST00000345365.6_Splice_Site_p.S88_splice|RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000590016.1_Intron|RAD51D_ENST00000394589.4_Splice_Site_p.S88_splice|RAD51D_ENST00000590380.1_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000357906.3_Splice_Site_p.R88_splice			O75771	RA51D_HUMAN	RAD51 paralog D						DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACACACAAACCTGCCAATGCC	0.557000								Direct reversal of damage					13	93					6.72482e-11	7.68026e-11	0.003163	1	0
URGCP	55665	broad.mit.edu	37	7	43918683	43918683	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:43918683C>A	ENST00000336086.6	-	4	2486	c.250G>T	c.(250-252)Gct>Tct	p.A84S	RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.A84S|URGCP_ENST00000453200.1_Missense_Mutation_p.A127S|URGCP_ENST00000447717.3_Missense_Mutation_p.A84S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.A84S|URGCP_ENST00000402306.3_Missense_Mutation_p.A118S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	127					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGGCATCAGCATTGAGGGCC	0.547000													40	70					4.0492e-12	4.67559e-12	0.006999	1	0
DNAH9	1770	broad.mit.edu	37	17	11648369	11648369	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:11648369A>T	ENST00000262442.3	+	31	6435	c.6367A>T	c.(6367-6369)Aag>Tag	p.K2123*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.K2123*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2123	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTGGATCTGAAGCTCCAGGC	0.512000													39	73					0	0	0.006999	0	0
STK36	27148	broad.mit.edu	37	2	219540848	219540848	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:219540848C>T	ENST00000295709.3	+	6	810	c.531C>T	c.(529-531)taC>taT	p.Y177Y	STK36_ENST00000440309.1_Silent_p.Y177Y|STK36_ENST00000392105.3_Silent_p.Y177Y|STK36_ENST00000392106.2_Silent_p.Y177Y	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	177	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGCGACCATACGACCACACAG	0.532000													7	132					0	0	0.003080	0	0
FLNB	2317	broad.mit.edu	37	3	58104676	58104676	+	Silent	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:58104676G>T	ENST00000357272.4	+	19	2988	c.2823G>T	c.(2821-2823)ccG>ccT	p.P941P	FLNB_ENST00000348383.5_Silent_p.P941P|FLNB_ENST00000295956.4_Silent_p.P941P|FLNB_ENST00000490882.1_Silent_p.P941P|FLNB_ENST00000358537.3_Silent_p.P941P|FLNB_ENST00000419752.2_Silent_p.P772P|FLNB_ENST00000493452.1_Silent_p.P772P|FLNB_ENST00000429972.2_Silent_p.P941P			O75369	FLNB_HUMAN	filamin B, beta	941					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTGCTGCACCGCTGGATCTGA	0.517000													6	47					0.00116845	0.00124594	0.001168	1	0
TES	26136	broad.mit.edu	37	7	115892374	115892374	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:115892374G>A	ENST00000358204.4	+	6	1136	c.921G>A	c.(919-921)ctG>ctA	p.L307L	AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Silent_p.L298L|TES_ENST00000537767.1_Silent_p.L65L|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	307	LIM zinc-binding 2.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CTTCCTAGCTGATATTCAGCA	0.348000													8	58					0	0	0.003080	0	0
WDR72	256764	broad.mit.edu	37	15	53889439	53889439	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:53889439C>T	ENST00000396328.1	-	18	3224	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A	WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000360509.5_Silent_p.A995A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378000													9	148					0	0	0.013537	0	0
UGT1A5	54579	broad.mit.edu	37	2	234621836	234621836	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:234621836A>G	ENST00000373414.3	+	1	199	c.199A>G	c.(199-201)Atg>Gtg	p.M67V	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GGAGGTGAATATGTACATCAA	0.547000													23	48					0	0	0.002780	0	0
TP53	7157	broad.mit.edu	37	17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:7577572T>C	ENST00000420246.2	-	7	841	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000269305.4_Missense_Mutation_p.M237V|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V|TP53_ENST00000413465.2_Missense_Mutation_p.M237V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGTTACACATGTAGTTGTAG	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	54					0	0	0.012213	0	0
HIST1H2AL	8332	broad.mit.edu	37	6	27833150	27833150	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:27833150G>C	ENST00000357320.2	+	1	117	c.18G>C	c.(16-18)aaG>aaC	p.K6N		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	6					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GACGCGGCAAGCAGGGAGGCA	0.582000													10	122					0	0	0.008291	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698536	40698536	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:40698536G>A	ENST00000253055.3	+	1	886	c.598G>A	c.(598-600)Gct>Act	p.A200T	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	200	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGTCAACTGGGCTGTGCAGGT	0.622000													14	15					0	0	0.004007	0	0
MUC5B	727897	broad.mit.edu	37	11	1261590	1261590	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:1261590C>T	ENST00000447027.1	+	30	4022	c.3964C>T	c.(3964-3966)Ccc>Tcc	p.P1322S	MUC5B_ENST00000529681.1_Missense_Mutation_p.P1319S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1319					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCCTGGGTCCCCCACTCCAC	0.617000													22	37					0	0	0.014323	0	0
C4orf3	401152	broad.mit.edu	37	4	120221571	120221571	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:120221571G>A	ENST00000399075.4	-	2	518	c.519C>T	c.(517-519)ccC>ccT	p.P173P	C4orf3_ENST00000504110.1_Silent_p.P40P	NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	40						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						AGGAGTGTTTGGGAAGCCCAT	0.517000													47	71					0	0	0.011902	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	114					0	0	0.000602	0	0
NUP210	23225	broad.mit.edu	37	3	13377046	13377046	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:13377046T>C	ENST00000254508.5	-	28	3833	c.3751A>G	c.(3751-3753)Acc>Gcc	p.T1251A		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1251					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTCAGCCCGGTCCGGCCTTTT	0.592000													8	37					0	0	0.006214	0	0
SLC6A13	6540	broad.mit.edu	37	12	336790	336790	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:336790G>A	ENST00000343164.4	-	8	928	c.876C>T	c.(874-876)atC>atT	p.I292I	SLC6A13_ENST00000445055.2_Silent_p.I200I	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	292					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCCAAGACAGATGGCGAAGG	0.562000													6	47					0	0	0.001168	0	0
ZNF569	148266	broad.mit.edu	37	19	37903627	37903627	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:37903627G>C	ENST00000316950.6	-	6	2490	c.1933C>G	c.(1933-1935)Caa>Gaa	p.Q645E	ZNF569_ENST00000392150.2_Missense_Mutation_p.Q486E|ZNF569_ENST00000392149.2_Missense_Mutation_p.Q645E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGAGATTTGAGAGAAGGCT	0.433000													7	115					0	0	0.003080	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36103939	36103939	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:36103939C>A	ENST00000258840.6	-	33	4849	c.4459G>T	c.(4459-4461)Gct>Tct	p.A1487S	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1453S|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1440S|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.A1440S			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1440	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAACACTGAGCTCCATAAACA	0.343000													7	45					5.18039e-06	5.6686e-06	0.003080	1	0
KLF17	128209	broad.mit.edu	37	1	44595384	44595384	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:44595384C>T	ENST00000372299.3	+	2	499	c.441C>T	c.(439-441)ttC>ttT	p.F147F	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	147					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCAGGCCCTTCGGTGGGAATC	0.562000													5	50					0	0	0.000602	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121616905	121616905	+	Splice_Site	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:121616905G>T	ENST00000393386.2	+	6	1030	c.619_splice	c.e6+1	p.G207_splice	PTPRZ1_ENST00000449182.1_Splice_Site_p.G207_splice	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	207	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTCGTTTTGGTAAGCTACT	0.353000													7	57					1.12685e-05	1.22662e-05	0.004482	1	0
GULP1	51454	broad.mit.edu	37	2	189434779	189434779	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:189434779A>G	ENST00000409580.1	+	10	1255	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	GULP1_ENST00000409830.1_Missense_Mutation_p.M181V|GULP1_ENST00000359135.3_Missense_Mutation_p.M181V|GULP1_ENST00000409805.1_Missense_Mutation_p.M78V|GULP1_ENST00000409843.1_Missense_Mutation_p.M181V|GULP1_ENST00000409609.1_Missense_Mutation_p.M181V			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	181					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			AACAGAAAATATGGAACTTAA	0.289000													14	24					0	0	0.004007	0	0
AJUBA	84962	broad.mit.edu	37	14	23451169	23451169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:23451169G>A	ENST00000262713.2	-	1	682	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q103*|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	103	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										GGCAACGACTGAGGTAGAGGC	0.706000													7	1					0	0	0.001984	0	0
COL6A2	1292	broad.mit.edu	37	21	47532166	47532166	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr21:47532166G>A	ENST00000300527.4	+	3	493	c.389G>A	c.(388-390)cGc>cAc	p.R130H	COL6A2_ENST00000310645.5_Missense_Mutation_p.R130H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R130H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R130H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R130H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	130	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCCTTCCGCCGCGGCACCTTC	0.672000													18	28					0	0	0.007413	0	0
OR1N2	138882	broad.mit.edu	37	9	125315629	125315629	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:125315629C>T	ENST00000373688.2	+	1	239	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGGGAACCTGCTCATTATCCT	0.522000													11	167					0	0	0.013537	0	0
COL6A3	1293	broad.mit.edu	37	2	238303780	238303780	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:238303780T>A	ENST00000295550.4	-	3	611	c.159A>T	c.(157-159)gaA>gaT	p.E53D	COL6A3_ENST00000346358.4_Missense_Mutation_p.E53D|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.E53D|COL6A3_ENST00000409809.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	53	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGGAAATGTTCCTCTCCAA	0.368000													15	23					0	0	0.003163	0	0
C1orf173	127254	broad.mit.edu	37	1	75072531	75072531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:75072531C>A	ENST00000326665.5	-	10	1461	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*	C1orf173_ENST00000420661.2_Nonsense_Mutation_p.E218*|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	415	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGCTCTTTTCTTTCCTAGAT	0.403000													6	132					0.000157383	0.000168683	0.003080	1	0
FBLN2	2199	broad.mit.edu	37	3	13679190	13679190	+	Missense_Mutation	SNP	C	C	T	rs112412824		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:13679190C>T	ENST00000404922.3	+	18	3586	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135V|FBLN2_ENST00000295760.7_Missense_Mutation_p.A1109V|FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156V	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATTGGCCCCGCGCCAGCCTTC	0.622000													9	0					0	0	0.004482	0	0
IFNA6	3443	broad.mit.edu	37	9	21350758	21350758	+	Silent	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:21350758T>C	ENST00000380210.1	-	1	619	c.129A>G	c.(127-129)caA>caG	p.Q43Q		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	43					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTCTCCTCATTTGTGCCAGGA	0.537000													67	30					0	0	0.014410	0	0
CERKL	375298	broad.mit.edu	37	2	182403829	182403829	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:182403829C>T	ENST00000410087.3	-	12	1628	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	CERKL_ENST00000339098.5_Missense_Mutation_p.V536I|CERKL_ENST00000374970.2_Missense_Mutation_p.V441I|CERKL_ENST00000409440.3_Missense_Mutation_p.V492I|CERKL_ENST00000374969.2_Missense_Mutation_p.V397I	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	536					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.V510I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTAATATGGACCTCTGATGCA	0.373000													27	45					0	0	0.008361	0	0
MYO6	4646	broad.mit.edu	37	6	76602328	76602328	+	Missense_Mutation	SNP	C	C	T	rs148245729		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:76602328C>T	ENST00000369981.3	+	28	3307	c.3028C>T	c.(3028-3030)Cgg>Tgg	p.R1010W	MYO6_ENST00000369975.1_Missense_Mutation_p.R1010W|MYO6_ENST00000369977.3_Missense_Mutation_p.R1010W|MYO6_ENST00000369985.4_Missense_Mutation_p.R1010W			Q9UM54	MYO6_HUMAN	myosin VI	1010	Glu-rich.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GCGCAGGGACCGGGAGCTGGC	0.647000													23	19					0	0	0.014323	0	0
AKAP13	11214	broad.mit.edu	37	15	86201776	86201776	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:86201776G>T	ENST00000394518.2	+	12	4849	c.4754G>T	c.(4753-4755)cGa>cTa	p.R1585L	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Intron|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1585					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTTCAATGCGAGTTCTTGGG	0.433000													6	131					0.00307968	0.00325077	0.003080	1	0
CDKN2A	1029	broad.mit.edu	37	9	21968243	21968243	+	Splice_Site	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:21968243T>C	ENST00000579755.1	-	3	793		c.e3-2		CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(7)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGGATGTCTGCAGAGGGCA	0.537000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			23	17					0	0	0.002780	0	0
MMP25	64386	broad.mit.edu	37	16	3100445	3100445	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:3100445G>A	ENST00000336577.4	+	4	796	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	187					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCCCTTCGACGGGTTGGGGGG	0.612000													8	41					0	0	0.004482	0	0
UPF2	26019	broad.mit.edu	37	10	11994186	11994186	+	Silent	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:11994186A>G	ENST00000356352.2	-	14	3386	c.2913T>C	c.(2911-2913)gaT>gaC	p.D971D	UPF2_ENST00000357604.5_Silent_p.D971D|UPF2_ENST00000397053.2_Silent_p.D971D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	971	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TGTAATCTATATCAATAGGAA	0.348000													38	55					0	0	0.004289	0	0
WAC	51322	broad.mit.edu	37	10	28872436	28872436	+	Splice_Site	SNP	T	T	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:28872436T>G	ENST00000375664.3	+	4	855		c.e4+2		WAC_ENST00000428935.1_Splice_Site|WAC_ENST00000347934.4_Splice_Site|WAC_ENST00000375646.1_Splice_Site|WAC_ENST00000354911.4_Splice_Site			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCAGATGCAGTAAGTATTATA	0.313000													49	84					0	0	0.014410	0	0
FANK1	92565	broad.mit.edu	37	10	127677183	127677183	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:127677183G>A	ENST00000368695.1	+	3	359	c.237G>A	c.(235-237)ctG>ctA	p.L79L	FANK1_ENST00000368689.1_Silent_p.L79L|FANK1_ENST00000368693.1_Silent_p.L85L|FANK1_ENST00000449042.2_Silent_p.L79L	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	85	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATTTCGCCTGAAGGTCACCA	0.517000													8	184					0	0	0.006214	0	0
TNFAIP8	25816	broad.mit.edu	37	5	118729027	118729027	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:118729027A>C	ENST00000504771.2	+	2	2325	c.548A>C	c.(547-549)cAa>cCa	p.Q183P	TNFAIP8_ENST00000274456.6_Missense_Mutation_p.Q173P|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.Q185P|TNFAIP8_ENST00000503646.1_Missense_Mutation_p.Q183P|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.Q195P	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	183					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CCCCACTTACAAAAACTATGT	0.343000													3	129					0	0	0.000602	0	0
HTT	3064	broad.mit.edu	37	4	3101073	3101073	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:3101073G>A	ENST00000355072.5	+	3	565	c.420G>A	c.(418-420)gaG>gaA	p.E140E		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	140					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATGACGCAGAGTCAGATGTCA	0.428000													4	59					0	0	0.000602	0	0
CEP350	9857	broad.mit.edu	37	1	180010837	180010837	+	Missense_Mutation	SNP	G	G	A	rs138458512		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:180010837G>A	ENST00000367607.3	+	19	4680	c.4262G>A	c.(4261-4263)cGg>cAg	p.R1421Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1421						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAATCACAACGGGAAGTAACT	0.438000													8	19					0	0	0.004482	0	0
SNX11	29916	broad.mit.edu	37	17	46196402	46196402	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:46196402G>A	ENST00000452859.2	+	0	554				SNX11_ENST00000359238.2_Silent_p.S131S|SNX11_ENST00000439357.2_Silent_p.S70S|SNX11_ENST00000582104.1_Silent_p.S123S|SNX11_ENST00000393405.2_Silent_p.S131S|SNX11_ENST00000580219.1_Silent_p.S123S			Q9Y5W9	SNX11_HUMAN	sorting nexin 11						cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GCCAGCTCTCGGTGCCTGAGA	0.532000													15	116					0	0	0.004007	0	0
PI16	221476	broad.mit.edu	37	6	36930912	36930912	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:36930912C>T	ENST00000373674.3	+	5	1122	c.794C>T	c.(793-795)cCa>cTa	p.P265L	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	265						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCAGGCCCCAACTTCCTTA	0.577000													8	89					0	0	0.004482	0	0
CNTN5	53942	broad.mit.edu	37	11	100064359	100064359	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:100064359C>G	ENST00000524871.1	+	15	2138	c.1848C>G	c.(1846-1848)ttC>ttG	p.F616L	CNTN5_ENST00000418526.2_Missense_Mutation_p.F542L|CNTN5_ENST00000527185.1_Missense_Mutation_p.F616L|CNTN5_ENST00000279463.3_Missense_Mutation_p.F616L|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.F616L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	616	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTATTGATTTCGAGGAAGAGG	0.373000													6	311					0	0	0.001984	0	0
ACACA	31	broad.mit.edu	37	17	35656257	35656257	+	Translation_Start_Site	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:35656257T>A	ENST00000360679.3	-	1	435	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	ACACA_ENST00000353139.5_Intron|ACACA_ENST00000335166.5_5'UTR|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000394406.2_Intron	NM_198837.1	NP_942134.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	0					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAACCCTCCATATCAAGATGG	0.393000													7	24					0	0	0.001984	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628589	51628589	+	Missense_Mutation	SNP	C	C	T	rs147625837		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:51628589C>T	ENST00000440804.3	+	1	425	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R120C	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	120	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATACTTCTTTCGTATGGAGAA	0.498000													24	64					0	0	0.002780	0	0
RRP12	23223	broad.mit.edu	37	10	99123620	99123620	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:99123620G>A	ENST00000370992.4	-	30	3669	c.3558C>T	c.(3556-3558)atC>atT	p.I1186I	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.I1125I|RRP12_ENST00000536831.1_Silent_p.I904I|RRP12_ENST00000315563.6_Silent_p.I1086I	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1186						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CATTCCTGATGATCACATCTT	0.542000													5	120					0	0	0.001168	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137567	40137567	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:40137567T>A	ENST00000278198.2	-	2	2239	c.276A>T	c.(274-276)aaA>aaT	p.K92N	LRRC4C_ENST00000528697.1_Missense_Mutation_p.K92N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K92N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K92N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	92					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGCTGTTCACTTTGATGATCT	0.473000													15	49					0	0	0.007413	0	0
MED30	90390	broad.mit.edu	37	8	118552171	118552171	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:118552171G>A	ENST00000297347.3	+	4	655	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	MED30_ENST00000522839.1_Missense_Mutation_p.R129Q	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	164					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			GATCAATTACGAAATCTCATC	0.318000													4	41					0	0	0.001984	0	0
CHST5	23563	broad.mit.edu	37	16	75564112	75564112	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:75564112G>A	ENST00000336257.3	-	3	1565	c.171C>T	c.(169-171)gcC>gcT	p.A57A	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.A63A	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	57					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CCTCGCCGCCGGCTGGGGATG	0.647000													8	16					0	0	0.006214	0	0
MFN2	9927	broad.mit.edu	37	1	12062113	12062113	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:12062113G>A	ENST00000235329.5	+	11	1435	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A	MFN2_ENST00000444836.1_Silent_p.A371A	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	371					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTGCAGAGGCGGTTCGACTCA	0.587000													39	72					0	0	0.006230	0	0
CRABP2	1382	broad.mit.edu	37	1	156670775	156670775	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:156670775T>A	ENST00000368222.3	-	2	294	c.140A>T	c.(139-141)gAg>gTg	p.E47V	CRABP2_ENST00000368221.1_Missense_Mutation_p.E47V	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	47					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)	AGTGTCTCCCTCCTGTTTGAT	0.537000													28	37					0	0	0.007291	0	0
KIT	3815	broad.mit.edu	37	4	55594178	55594178	+	Splice_Site	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:55594178G>T	ENST00000288135.5	+	13	1978	c.1879_splice	c.e13-1	p.P627_splice		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	627	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAATTTTAGCGAGTGCCCATT	0.433000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				36	48					3.21399e-22	3.79506e-22	0.004878	1	0
ZNF440	126070	broad.mit.edu	37	19	11942884	11942884	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:11942884A>G	ENST00000304060.5	+	4	1057	c.893A>G	c.(892-894)tAt>tGt	p.Y298C		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTCCCCGTTATGTTCGTATA	0.398000													21	60					0	0	0.014323	0	0
CCSER2	54462	broad.mit.edu	37	10	86237392	86237392	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:86237392A>G	ENST00000224756.8	+	9	2482	c.2297A>G	c.(2296-2298)tAt>tGt	p.Y766C	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000372088.2_Missense_Mutation_p.Y766C|CCSER2_ENST00000543283.1_Missense_Mutation_p.Y193C	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		GCTGATAAATATACCCAAACA	0.338000													8	22					0	0	0.004482	0	0
MTHFD2	10797	broad.mit.edu	37	2	74441326	74441326	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:74441326G>A	ENST00000394053.2	+	8	1090	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	MTHFD2_ENST00000394050.3_Missense_Mutation_p.R173Q|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R254Q|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.R235Q|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R209Q	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	337					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)	CTTGAAGAGCGAGAAGTGCTG	0.468000													36	64					0	0	0.004878	0	0
RDH8	50700	broad.mit.edu	37	19	10127887	10127887	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:10127887G>A	ENST00000591589.1	+	2	507	c.318G>A	c.(316-318)gtG>gtA	p.V106V	RDH8_ENST00000171214.1_Silent_p.V86V			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	86					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGTGGACGTGCTGGGTGAGA	0.587000													7	13					0	0	0.003080	0	0
FNDC3A	22862	broad.mit.edu	37	13	49762701	49762701	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:49762701G>C	ENST00000492622.2	+	17	2181	c.1876G>C	c.(1876-1878)Gat>Cat	p.D626H	FNDC3A_ENST00000541916.1_Missense_Mutation_p.D626H|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D570H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	626	Fibronectin type-III 4.					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)		ACATCTTTGTGATCGACTGAA	0.393000													7	171					0	0	0.006214	0	0
CACNA1S	779	broad.mit.edu	37	1	201022675	201022675	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:201022675C>T	ENST00000362061.3	-	30	3933	c.3707G>A	c.(3706-3708)cGc>cAc	p.R1236H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1217H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1236					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACGGAACAGGCGGAAGAAGGC	0.622000													4	73					0	0	0.009096	0	0
SDR9C7	121214	broad.mit.edu	37	12	57317740	57317740	+	Silent	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:57317740A>G	ENST00000293502.1	-	4	962	c.819T>C	c.(817-819)ccT>ccC	p.P273P		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	273						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGCGGATGCGAGGGCTCCGGG	0.507000													4	88					0	0	0.009096	0	0
SATB2	23314	broad.mit.edu	37	2	200173524	200173524	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:200173524G>A	ENST00000443023.1	-	9	2987	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	SATB2_ENST00000260926.5_Missense_Mutation_p.R567C|SATB2_ENST00000457245.1_Missense_Mutation_p.R567C|SATB2_ENST00000417098.1_Missense_Mutation_p.R567C|SATB2_ENST00000428695.1_Missense_Mutation_p.R449C			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	567						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTTGCATGCGTTCGCTGTGG	0.597000													20	75					0	0	0.012319	0	0
URI1	8725	broad.mit.edu	37	19	30496290	30496290	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:30496290C>T	ENST00000392271.1	+	5	687	c.162C>T	c.(160-162)gaC>gaT	p.D54D	URI1_ENST00000574176.1_3'UTR|URI1_ENST00000360605.4_Silent_p.D112D|URI1_ENST00000542441.2_Silent_p.D130D|URI1_ENST00000312051.6_Silent_p.D90D	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	130					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										CAATAGATGACTTAAAAAAAG	0.299000													5	16					0	0	0.001168	0	0
ATP7B	540	broad.mit.edu	37	13	52536026	52536026	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:52536026C>T	ENST00000242839.4	-	6	2049	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L	ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Silent_p.L520L|ATP7B_ENST00000417240.2_5'UTR|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000418097.2_Silent_p.L631L|ATP7B_ENST00000448424.2_Silent_p.L631L|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	631	HMA 6.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TTCTCTGGGCCAGGGAAGCAT	0.433000									Wilson disease				12	43					0	0	0.001855	0	0
KMT2C	58508	broad.mit.edu	37	7	151874275	151874275	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:151874275C>G	ENST00000355193.2	-	38	8481	c.8263G>C	c.(8263-8265)Gat>Cat	p.D2755H	KMT2C_ENST00000262189.6_Missense_Mutation_p.D2755H					lysine (K)-specific methyltransferase 2C																		GCAATGATATCAAACTCTCCT	0.358000													9	64					0	0	0.004482	0	0
UBR4	23352	broad.mit.edu	37	1	19447699	19447699	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:19447699T>A	ENST00000375267.2	-	68	10128	c.10125A>T	c.(10123-10125)aaA>aaT	p.K3375N	UBR4_ENST00000375254.3_Missense_Mutation_p.K3375N|UBR4_ENST00000375217.2_Missense_Mutation_p.K3368N|UBR4_ENST00000375226.2_Missense_Mutation_p.K3351N			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3375					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCCTTTTCTTTTTCTTCTT	0.453000													32	92					0	0	0.003271	0	0
CDC123	8872	broad.mit.edu	37	10	12238301	12238301	+	Silent	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:12238301A>T	ENST00000281141.4	+	1	337	c.57A>T	c.(55-57)cgA>cgT	p.R19R	CDC123_ENST00000378900.2_Silent_p.R19R|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	19					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CGTTCTTCCGAGGCGTTACCA	0.572000													22	48					0	0	0.006320	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	39					0	0	0.007413	0	0
COPA	1314	broad.mit.edu	37	1	160312934	160312934	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:160312934G>A	ENST00000241704.7	-	1	256	c.27C>T	c.(25-27)agC>agT	p.S9S	COPA_ENST00000368069.3_Silent_p.S9S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	9					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGACCCGCGCGCTCTTGGTCT	0.567000													12	249					0	0	0.001855	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706965	33706965	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr18:33706965C>T	ENST00000269187.5	-	2	219	c.6G>A	c.(4-6)gcG>gcA	p.A2A	SLC39A6_ENST00000590986.1_Silent_p.A2A|SLC39A6_ENST00000440549.2_Intron	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	2						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.A2A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ATAACTTCCTCGCCATTGCGC	0.383000													21	44					0	0	0.012319	0	0
NOP2	4839	broad.mit.edu	37	12	6666180	6666180	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:6666180G>C	ENST00000541778.1	-	16	2894	c.2406C>G	c.(2404-2406)aaC>aaG	p.N802K	NOP2_ENST00000382421.3_Missense_Mutation_p.N839K|NOP2_ENST00000399466.2_Missense_Mutation_p.N802K|NOP2_ENST00000322166.5_Missense_Mutation_p.N806K|NOP2_ENST00000537442.1_Missense_Mutation_p.N806K|NOP2_ENST00000545200.1_3'UTR			P46087	NOP2_HUMAN	NOP2 nucleolar protein	806					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GCAGCTGGCTGTTGCCCCTGG	0.557000													18	32					0	0	0.007413	0	0
ASAP3	55616	broad.mit.edu	37	1	23760810	23760810	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:23760810C>T	ENST00000336689.3	-	19	1932	c.1888G>A	c.(1888-1890)Gca>Aca	p.A630T	ASAP3_ENST00000495646.1_Missense_Mutation_p.A134T|ASAP3_ENST00000437606.2_Missense_Mutation_p.A621T|ASAP3_ENST00000484906.1_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	630					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TTGTAGAGTGCTGCGTAGTGC	0.577000													3	88					0	0	0.004672	0	0
TMTC4	84899	broad.mit.edu	37	13	101287320	101287320	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:101287320C>T	ENST00000342624.5	-	11	1590	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	TMTC4_ENST00000376234.3_Silent_p.L425L|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.L314L	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	425						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCCAAAAGTCAGCAGCACAC	0.527000													24	40					0	0	0.004656	0	0
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	by1000genomes	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P					nuclear pore complex interacting protein family, member B6									p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507000													3	84					0	0	0.009096	0	0
PFAS	5198	broad.mit.edu	37	17	8170154	8170154	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:8170154C>G	ENST00000314666.6	+	23	3038	c.2905C>G	c.(2905-2907)Cgg>Ggg	p.R969G	PFAS_ENST00000545834.1_Missense_Mutation_p.R545G	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	969					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAGCGTTACCGGGATGCTGG	0.662000													15	28					0	0	0.004007	0	0
ANKRD28	23243	broad.mit.edu	37	3	15731669	15731669	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:15731669T>C	ENST00000399451.2	-	18	2097	c.1730A>G	c.(1729-1731)gAt>gGt	p.D577G	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.D610G	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	577						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTTCTGACATCAAGATCTAA	0.363000													2	5					0	0	0.004672	0	0
IPMK	253430	broad.mit.edu	37	10	60027245	60027245	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:60027245G>C	ENST00000373935.3	-	1	449	c.127C>G	c.(127-129)Ctc>Gtc	p.L43V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	43						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CAGCCGTTGAGGAAGCGGAGT	0.701000													12	17					0	0	0.002450	0	0
KRT38	8687	broad.mit.edu	37	17	39596763	39596763	+	Silent	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:39596763G>C	ENST00000246646.3	-	1	410	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	137	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGCTCCTCTCGAGGAGTGTGG	0.592000													3	116					0	0	0.004672	0	0
GALNT6	11226	broad.mit.edu	37	12	51773260	51773260	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:51773260G>A	ENST00000543196.2	-	2	511	c.306C>T	c.(304-306)ttC>ttT	p.F102F	GALNT6_ENST00000356317.3_Silent_p.F102F			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	102					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCCGTTCCCAGAAGGGCTTCA	0.567000													5	118					0	0	0.000602	0	0
ZBTB48	3104	broad.mit.edu	37	1	6646822	6646822	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:6646822C>G	ENST00000377674.4	+	5	1270	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	371						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CACATGGTGTCTCACACAGGG	0.632000													5	16					0	0	0.000602	0	0
CHN1	1123	broad.mit.edu	37	2	175779816	175779816	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:175779816C>T	ENST00000409900.3	-	5	543	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	CHN1_ENST00000409156.3_Missense_Mutation_p.R77Q|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	77	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCCTGGCTGCCGCTGGCTCTC	0.463000			T	TAF15	extraskeletal myxoid chondrosarcoma								3	16					0	0	0.004672	0	0
RC3H1	149041	broad.mit.edu	37	1	173961928	173961928	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:173961928C>A	ENST00000367696.2	-	2	547	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L	RC3H1_ENST00000367694.2_Missense_Mutation_p.V66L|RC3H1_ENST00000258349.4_Missense_Mutation_p.V66L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	66					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTGAGTTCACAGGGAGGAGC	0.483000													26	31					7.01153e-11	7.96419e-11	0.007291	1	0
TRMT61B	55006	broad.mit.edu	37	2	29092443	29092443	+	Splice_Site	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:29092443A>G	ENST00000306108.5	-	1	723		c.e1+1			NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)								tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CCATCGCATTACCTTTGGGAA	0.448000													94	193					0	0	0.014410	0	0
HTR7	3363	broad.mit.edu	37	10	92508650	92508650	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:92508650C>A	ENST00000371721.3	-	2	1483	c.1241G>T	c.(1240-1242)gGc>gTc	p.G414V	HTR7_ENST00000277874.6_Missense_Mutation_p.G414V|HTR7_ENST00000371719.2_Missense_Mutation_p.G414V|HTR7_ENST00000336152.3_Missense_Mutation_p.G414V			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	414					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TTCATGCATGCCTGCAGCTGA	0.498000													7	145					8.12818e-05	8.80202e-05	0.001984	1	0
EP400	57634	broad.mit.edu	37	12	132446187	132446187	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:132446187C>A	ENST00000333577.4	+	2	1132	c.1023C>A	c.(1021-1023)aaC>aaA	p.N341K	EP400_ENST00000389562.2_Missense_Mutation_p.N341K|EP400_ENST00000389561.2_Missense_Mutation_p.N341K|EP400_ENST00000330386.6_Missense_Mutation_p.N341K|EP400_ENST00000332482.4_Missense_Mutation_p.N341K			Q96L91	EP400_HUMAN	E1A binding protein p400	341					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTGTGGGGAACACGGGAATGA	0.612000													8	10					1.58986e-06	1.7581e-06	0.008291	1	0
PSMC6	5706	broad.mit.edu	37	14	53177865	53177865	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:53177865T>A	ENST00000445930.2	+	5	353	c.347T>A	c.(346-348)aTg>aAg	p.M116K	PSMC6_ENST00000606149.1_Missense_Mutation_p.M102K			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GCTTTGGATATGACTACACTA	0.328000													49	31					0	0	0.014410	0	0
DSCAM	1826	broad.mit.edu	37	21	41385184	41385184	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr21:41385184C>T	ENST00000400454.1	-	33	6293	c.5816G>A	c.(5815-5817)cGc>cAc	p.R1939H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1939				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACCGTGGGGCGCTTCAGGGT	0.612000													11	21					0	0	0.013537	0	0
ACSM3	6296	broad.mit.edu	37	16	20781491	20781491	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:20781491C>T	ENST00000289416.5	+	2	610	c.135C>T	c.(133-135)tcC>tcT	p.S45S	ACSM3_ENST00000450120.2_5'UTR|ACSM3_ENST00000440284.2_Silent_p.S45S	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	45					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ACTATGAATCCATGAAACAGG	0.443000													31	48					0	0	0.010818	0	0
LCT	3938	broad.mit.edu	37	2	136567035	136567035	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:136567035G>A	ENST00000264162.2	-	8	2892	c.2882C>T	c.(2881-2883)gCc>gTc	p.A961V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	961	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATTCAGATCGGCATCCAGCTG	0.517000													4	103					0	0	0.009096	0	0
GTF3C1	2975	broad.mit.edu	37	16	27476145	27476145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:27476145G>A	ENST00000356183.4	-	34	5383	c.5368C>T	c.(5368-5370)Cag>Tag	p.Q1790*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.Q1790*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1790						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACCTGATGCTGCTCCAGGAGG	0.677000													9	17					0	0	0.004482	0	0
THOC2	57187	broad.mit.edu	37	X	122765598	122765598	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:122765598G>C	ENST00000245838.8	-	22	2453	c.2422C>G	c.(2422-2424)Cat>Gat	p.H808D	THOC2_ENST00000355725.4_Missense_Mutation_p.H808D|THOC2_ENST00000491737.1_Missense_Mutation_p.H693D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	808					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.H729Y(1)|p.H808Y(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGGGGTGTATGAAATTCATTA	0.418000													5	144					0	0	0.001168	0	0
GOSR1	9527	broad.mit.edu	37	17	28808253	28808253	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:28808253A>T	ENST00000225724.5	+	2	196	c.124A>T	c.(124-126)Acc>Tcc	p.T42S	GOSR1_ENST00000581721.1_Missense_Mutation_p.T42S|GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.T42S|GOSR1_ENST00000579905.1_3'UTR	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	42					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						TCATAGCAGTACCCGAGATGG	0.373000													27	47					0	0	0.009535	0	0
GLT1D1	144423	broad.mit.edu	37	12	129360459	129360459	+	Splice_Site	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:129360459G>A	ENST00000442111.2	+	2	157	c.68_splice	c.e2-1	p.R23_splice	GLT1D1_ENST00000537468.1_Splice_Site_p.L12_splice|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Splice_Site_p.R23_splice			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	23					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTGATAAAGGGCCCATCTAG	0.418000													55	96					0	0	0.014410	0	0
AGTR1	185	broad.mit.edu	37	3	148458873	148458873	+	Silent	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:148458873T>C	ENST00000542281.1	+	4	497	c.51T>C	c.(49-51)gaT>gaC	p.D17D	AGTR1_ENST00000474935.1_Silent_p.D17D|AGTR1_ENST00000497524.1_Silent_p.D17D|AGTR1_ENST00000402260.1_Silent_p.D17D|AGTR1_ENST00000404754.2_Silent_p.D17D|AGTR1_ENST00000475347.1_Silent_p.D17D|AGTR1_ENST00000349243.3_Silent_p.D17D|AGTR1_ENST00000418473.2_Silent_p.D17D|AGTR1_ENST00000461609.1_Silent_p.D17D	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	17					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCCAAGATGATTGTCCCAAAG	0.363000													28	32					0	0	0.007291	0	0
ZNF530	348327	broad.mit.edu	37	19	58117075	58117075	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:58117075A>G	ENST00000332854.6	+	3	402	c.182A>G	c.(181-183)gAt>gGt	p.D61G	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGCAGTAGATGAGGGGACG	0.463000													33	54					0	0	0.005524	0	0
PBX3	5090	broad.mit.edu	37	9	128723127	128723127	+	Splice_Site	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:128723127C>T	ENST00000373487.4	+	7	1151	c.1072_splice	c.e7+1	p.S357_splice	PBX3_ENST00000373489.5_Splice_Site_p.S336_splice|PBX3_ENST00000373483.2_Splice_Site_p.S155_splice|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000447726.2_Splice_Site_p.S261_splice|PBX3_ENST00000342287.5_Splice_Site_p.S336_splice			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	336					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						CACCAAATTCCGGTGCGTACT	0.587000													3	19					0	0	0.000602	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219624	1219624	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:1219624C>T	ENST00000304460.10	+	10	1439	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	461					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCAGGCCTCATCTGCCTGG	0.637000													14	19					0	0	0.003163	0	0
TMEM187	8269	broad.mit.edu	37	X	153248203	153248203	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:153248203G>A	ENST00000369982.4	+	2	1437	c.690G>A	c.(688-690)aaG>aaA	p.K230K		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	230						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGTCCAAGGTCTGTGACG	0.562000													42	16					0	0	0.009718	0	0
HPSE2	60495	broad.mit.edu	37	10	100503694	100503694	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:100503694G>A	ENST00000370552.3	-	4	789	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	HPSE2_ENST00000370546.1_Silent_p.L244L|HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	244					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TACTTCAACAGACTCAGGGCA	0.418000													19	42					0	0	0.007413	0	0
LAMA1	284217	broad.mit.edu	37	18	6978216	6978216	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr18:6978216G>A	ENST00000389658.3	-	43	6262	c.6169C>T	c.(6169-6171)Ctg>Ttg	p.L2057L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2057	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGTCCTGCAGAAGCTGGTGT	0.592000													4	98					0	0	0.009096	0	0
CORO2A	7464	broad.mit.edu	37	9	100899882	100899882	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:100899882T>A	ENST00000343933.5	-	3	547	c.290A>T	c.(289-291)gAg>gTg	p.E97V	CORO2A_ENST00000375077.4_Missense_Mutation_p.E97V	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	97					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGAGGCGATCTCAAAATCATC	0.542000													51	122					0	0	0.014410	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856543	72856543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:72856543G>A	ENST00000339594.4	-	19	4773	c.4435C>T	c.(4435-4437)Cga>Tga	p.R1479*	BAZ1B_ENST00000404251.1_Nonsense_Mutation_p.R1479*	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1479					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTGTCTTCGTCCCCTGGAC	0.597000													8	187					0	0	0.004482	0	0
GNAS	2778	broad.mit.edu	37	20	57428562	57428562	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr20:57428562T>A	ENST00000371100.4	+	1	794	c.242T>A	c.(241-243)cTc>cAc	p.L81H	GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.L81H|GNAS_ENST00000371102.4_Missense_Mutation_p.L81H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.S18T|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTTCAGGTCCTCAACCCGGCA	0.612000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	22					0	0	0.004672	0	0
ZMYM3	9203	broad.mit.edu	37	X	70463731	70463731	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:70463731C>T	ENST00000373998.1	-	21	4041	c.3344G>A	c.(3343-3345)gGt>gAt	p.G1115D	ZMYM3_ENST00000353904.2_Missense_Mutation_p.G1127D|ZMYM3_ENST00000314425.5_Missense_Mutation_p.G1127D|ZMYM3_ENST00000373984.3_Missense_Mutation_p.G1122D|ZMYM3_ENST00000373988.1_Missense_Mutation_p.G1129D|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1127					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATATCGTTCACCATTGGGCCG	0.502000													6	53					0	0	0.001168	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521249	33521249	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:33521249G>A	ENST00000297307.5	-	1	163	c.78C>T	c.(76-78)cgC>cgT	p.R26R		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	26						integral to membrane											GCTGGTACCAGCGGAGGCTGG	0.652000													33	41					0	0	0.010818	0	0
EPHX2	2053	broad.mit.edu	37	8	27401308	27401308	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:27401308G>A	ENST00000521400.1	+	17	1922	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	EPHX2_ENST00000518379.1_Missense_Mutation_p.V466M|EPHX2_ENST00000517536.1_Missense_Mutation_p.V315M|EPHX2_ENST00000380476.3_Missense_Mutation_p.V445M|EPHX2_ENST00000521780.1_Missense_Mutation_p.V432M	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	498	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GAAGGACTTCGTGCTCGTTCC	0.612000													6	54					0	0	0.001984	0	0
ELP3	55140	broad.mit.edu	37	8	27964292	27964292	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:27964292T>C	ENST00000537665.1	+	3	273	c.28T>C	c.(28-30)Tat>Cat	p.Y10H	ELP3_ENST00000380353.4_Silent_p.N15N|ELP3_ENST00000542181.1_5'UTR|ELP3_ENST00000524103.1_Silent_p.N35N|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000521015.1_Silent_p.N93N|ELP3_ENST00000256398.8_Silent_p.N107N			Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	0				S -> G (in Ref. 1; BAA91600).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTACAGGAAATATATGTGTGT	0.343000													24	48					0	0	0.005443	0	0
CYP3A5	1577	broad.mit.edu	37	7	99264261	99264261	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:99264261G>A	ENST00000343703.5	-	7	840	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	CYP3A5_ENST00000222982.4_Missense_Mutation_p.R162W|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TCTGCTTCCCGCCTCAAGTTT	0.493000													11	191					0	0	0.010729	0	0
COL22A1	169044	broad.mit.edu	37	8	139601575	139601575	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:139601575G>A	ENST00000303045.6	-	65	5248	c.4802C>T	c.(4801-4803)cCc>cTc	p.P1601L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1581L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1601	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGCCTGGGGGACCGGGAGG	0.617000										HNSCC(7;0.00092)			8	39					0	0	0.006214	0	0
EIF4G2	1982	broad.mit.edu	37	11	10825924	10825924	+	Silent	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:10825924C>A	ENST00000526148.1	-	6	903	c.393G>T	c.(391-393)ctG>ctT	p.L131L	EIF4G2_ENST00000525681.1_Silent_p.L131L|EIF4G2_ENST00000396525.2_Silent_p.L131L|EIF4G2_ENST00000339995.5_Silent_p.L131L	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	131	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCTGAGCATACAGTGAGCTAT	0.443000													37	76					9.8876e-21	1.16096e-20	0.004878	1	0
ADCK4	79934	broad.mit.edu	37	19	41198104	41198104	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:41198104T>A	ENST00000324464.3	-	15	1772	c.1471A>T	c.(1471-1473)Aag>Tag	p.K491*	ADCK4_ENST00000450541.1_Nonsense_Mutation_p.K450*|ADCK4_ENST00000243583.6_Nonsense_Mutation_p.K450*	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	491						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)			CCTGCCAGCTTGCGGTGCAGG	0.687000													5	8					0	0	0.001168	0	0
IFRD2	7866	broad.mit.edu	37	3	50326350	50326350	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:50326350C>A	ENST00000436390.1	-	12	1401	c.904G>T	c.(904-906)Gac>Tac	p.D302Y	IFRD2_ENST00000417626.2_Missense_Mutation_p.D302Y|IFRD2_ENST00000336089.4_Missense_Mutation_p.D468Y|IFRD2_ENST00000429673.2_Missense_Mutation_p.D366Y			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	366							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCTCCATGTCCTCGTAAACA	0.587000													8	3					0.000157383	0.000168683	0.003080	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260066	90260066	+	RNA	DEL	T	T	-			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:90260066delT	ENST00000471857.1	+	0	350																											TTATTTAGCCTGGTATCAGCA	0.507													67	147	---	---	---	---					
XIRP1	165904	broad.mit.edu	37	3	39227515	39227530	+	Frame_Shift_Del	DEL	CCATCCTGAATTGTCA	CCATCCTGAATTGTCA	-			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:39227515_39227530delCCATCCTGAATTGTCA	ENST00000340369.3	-	2	3635_3650	c.3407_3422delTGACAATTCAGGATGG	c.(3406-3423)gcfs	p.VTIQDG1136fs	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1136							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTGTAGATGCCATCCTGAATTGTCACCCACCCCCC	0.606													15	30	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													3	6	---	---	---	---					
TFAP2A	7020	broad.mit.edu	37	6	10410525	10410526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:10410525_10410526insG	ENST00000379613.3	-	2	350_351	c.94_95insC	c.(94-96)gctfs	p.A32fs	TFAP2A_ENST00000379608.3_Frame_Shift_Ins_p.A24fs|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Frame_Shift_Ins_p.A26fs|TFAP2A_ENST00000482890.1_Frame_Shift_Ins_p.A30fs|TFAP2A_ENST00000379604.2_Frame_Shift_Ins_p.A30fs			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	30	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGTGCCCAGCTGGGGCAACCGT	0.614													10	22	---	---	---	---					
TTI2	80185	broad.mit.edu	37	8	33364791	33364792	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:33364791_33364792insA	ENST00000431156.2	-	4	1500_1501	c.882_883insT	c.(880-885)caccatfs	p.H295fs	TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Frame_Shift_Ins_p.H295fs|TTI2_ENST00000520636.1_Intron	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	295							binding										TTGGAAATGGCATGGTATAGGA	0.436													17	30	---	---	---	---					
NAV2	89797	broad.mit.edu	37	11	20117234	20117237	+	Frame_Shift_Del	DEL	TCTT	TCTT	-	rs34775480	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:20117234_20117237delTCTT	ENST00000396085.1	+	31	6303_6306	c.5942_5945delTCTT	c.(5941-5946)ctfs	p.LF1981fs	NAV2_ENST00000360655.4_Frame_Shift_Del_p.LF1914fs|NAV2_ENST00000311043.8_Frame_Shift_Del_p.LF1042fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.LF1968fs|NAV2_ENST00000527559.2_Frame_Shift_Del_p.LF1966fs|NAV2_ENST00000396087.3_Frame_Shift_Del_p.LF2037fs|NAV2_ENST00000349880.4_Frame_Shift_Del_p.LF1978fs|NAV2_ENST00000533917.1_Frame_Shift_Del_p.LF1042fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2037						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGACCACATCTCTTTCTTATTGGC	0.461													72	151	---	---	---	---					
ESYT1	23344	broad.mit.edu	37	12	56532256	56532257	+	In_Frame_Ins	INS	-	-	TATATGGAG			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:56532256_56532257insTATATGGAG	ENST00000394048.5	+	22	2670_2671	c.2406_2407insTATATGGAG	c.(2404-2409)atatat>atTATATGGAGatat	p.802_803IY>IIWRY	ESYT1_ENST00000541590.1_In_Frame_Ins_p.812_813IY>IIWRY|ESYT1_ENST00000267113.4_In_Frame_Ins_p.812_813IY>IIWRY|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	802	C2 4.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGCTATCCATCTATATGGAGCG	0.609													5	7	---	---	---	---					
TMCO3	55002	broad.mit.edu	37	13	114152804	114152804	+	Frame_Shift_Del	DEL	A	A	-	rs143854308		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:114152804delA	ENST00000434316.2	+	3	951	c.592delA	c.(592-594)tafs	p.I198fs	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Frame_Shift_Del_p.I198fs	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	198						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGAGGAAGAGATAGAGGAACA	0.418													31	66	---	---	---	---					
ANGEL1	23357	broad.mit.edu	37	14	77257651	77257652	+	Frame_Shift_Ins	INS	-	-	GGCT			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:77257651_77257652insGGCT	ENST00000251089.2	-	8	1788_1789	c.1676_1677insAGCC	c.(1675-1677)cgcfs	p.R559fs	ANGEL1_ENST00000557179.1_Frame_Shift_Ins_p.R124fs	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	559										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TGGAGAAGGCAGGCTCAAGCTC	0.505													28	63	---	---	---	---