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
ANAPC7	51434	broad.mit.edu	37	12	110813919	110813919	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:110813919G>A	ENST00000455511.3	-	10	1562	c.1562C>T	c.(1561-1563)gCt>gTt	p.A521V	ANAPC7_ENST00000450008.2_Missense_Mutation_p.A521V|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	521					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	p.A487V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTCATTGACAGCTACAAGGAA	0.493000													3	68					0	0	0.004672	0	0
CEP85L	387119	broad.mit.edu	37	6	118887202	118887202	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:118887202C>A	ENST00000368491.3	-	3	1131	c.510G>T	c.(508-510)caG>caT	p.Q170H	CEP85L_ENST00000419517.2_Missense_Mutation_p.Q170H|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000392500.3_Missense_Mutation_p.Q173H|CEP85L_ENST00000360290.3_Missense_Mutation_p.Q68H|CEP85L_ENST00000368488.5_Missense_Mutation_p.Q173H	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	170						centrosome		p.Q170H(1)									CAGTGCCACCCTGGCCACAGT	0.507000													10	77					3.86212e-05	4.4915e-05	0.008291	1	0
GRM1	2911	broad.mit.edu	37	6	146755808	146755808	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:146755808C>T	ENST00000361719.2	+	9	3931	c.3461C>T	c.(3460-3462)tCg>tTg	p.S1154L	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1154L|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1154	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S1154L(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTCCGCGACTCGGTGGCCTCG	0.657000													8	61					0	0	0.004482	0	0
KAT6B	23522	broad.mit.edu	37	10	76788256	76788256	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:76788256A>G	ENST00000287239.4	+	18	4163	c.3674A>G	c.(3673-3675)aAt>aGt	p.N1225S	KAT6B_ENST00000372725.1_Missense_Mutation_p.N933S|KAT6B_ENST00000372714.1_Missense_Mutation_p.N933S|KAT6B_ENST00000372724.1_Missense_Mutation_p.N933S|KAT6B_ENST00000372711.1_Missense_Mutation_p.N1042S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1225					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.N1225S(1)									GACAATATGAATGATGATTCA	0.373000													7	122					0	0	0.006214	0	0
MTHFD1	4522	broad.mit.edu	37	14	64911421	64911421	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr14:64911421G>A	ENST00000555709.1	+	22	2534	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E	MTHFD1_ENST00000216605.7_Missense_Mutation_p.G772E|MTHFD1_ENST00000545908.1_Missense_Mutation_p.G772E|CTD-2555O16.2_ENST00000556640.1_RNA	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	716	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	p.G716E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GTCACTGCTGGACTGCCTCTT	0.443000													4	88					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179446303	179446303	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:179446303C>G	ENST00000589042.1	-	316	66916	c.66692G>C	c.(66691-66693)cGt>cCt	p.R22231P	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19663P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R20590P|TTN_ENST00000342175.6_Missense_Mutation_p.R13358P|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13291P|TTN_ENST00000460472.2_Missense_Mutation_p.R13166P|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20590	Fibronectin type-III 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R19661P(1)|p.R13291P(1)|p.R13166P(1)|p.R13358P(1)|p.R19663P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCATACACACGGAATTGATA	0.453000													13	52					0	0	0.016723	0	0
ABCA12	26154	broad.mit.edu	37	2	215884116	215884116	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:215884116G>C	ENST00000272895.7	-	13	1820	c.1601C>G	c.(1600-1602)cCg>cGg	p.P534R	ABCA12_ENST00000389661.4_Missense_Mutation_p.P216R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	534					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P534R(1)|p.P534L(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTATGATCGGTATTAACTG	0.358000													12	59					0	0	0.013537	0	0
TMEM246	84302	broad.mit.edu	37	9	104238192	104238192	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:104238192G>A	ENST00000374851.1	-	4	2330	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R395W|TMEM246_ENST00000374847.1_Missense_Mutation_p.R395W|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	395						integral to membrane		p.R395W(1)									AAGTTGTACCGGAGACTGGAG	0.488000													28	114					0	0	0.015359	0	0
TNPO2	30000	broad.mit.edu	37	19	12813730	12813730	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:12813730C>T	ENST00000425528.1	-	21	2569	c.2212G>A	c.(2212-2214)Gca>Aca	p.A738T	TNPO2_ENST00000441499.1_Missense_Mutation_p.A738T|TNPO2_ENST00000588216.1_Missense_Mutation_p.A738T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A738T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A738T|TNPO2_ENST00000592287.1_Missense_Mutation_p.A738T			O14787	TNPO2_HUMAN	transportin 2	738					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.A738T(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCATCTCTGCCCCTGGGGGA	0.612000													27	140					0	0	0.005443	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250928	142250928	+	RNA	SNP	A	A	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:142250928A>T	ENST00000390360.3	-	0	139																											GGTACATCTCAGTGTCATGCT	0.498000													5	74					0	0	0.001168	0	0
C6orf136	221545	broad.mit.edu	37	6	30619243	30619243	+	Splice_Site	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:30619243G>A	ENST00000293604.6	+	4	1500	c.1307_splice	c.e4+1	p.R436_splice	C6orf136_ENST00000376471.4_Splice_Site_p.R121_splice|C6orf136_ENST00000376473.5_Splice_Site_p.R255_splice|C6orf136_ENST00000528347.2_Splice_Site_p.R112_splice	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	255								p.R112Q(1)|p.R436Q(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GAGCATTACCGGTAAGAGAGA	0.502000													4	198					0	0	0.009096	0	0
PLCB3	5331	broad.mit.edu	37	11	64021894	64021894	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:64021894C>T	ENST00000540288.1	+	2	210	c.107C>T	c.(106-108)tCc>tTc	p.S36F	PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.S36F	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	36					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S36F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGGAGACCTCCAGTCGGAAC	0.652000													14	157					0	0	0.004990	0	0
WIF1	11197	broad.mit.edu	37	12	65445189	65445189	+	Silent	SNP	C	C	T	rs148339341		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:65445189C>T	ENST00000286574.4	-	10	1454	c.1080G>A	c.(1078-1080)acG>acA	p.T360T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	360					multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	p.T360T(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TAAGTGAAGGCGTGTGCTGCC	0.493000			T	HMGA2	pleomorphic salivary gland adenoma								10	52					0	0	0.008291	0	0
A2ML1	144568	broad.mit.edu	37	12	9013866	9013866	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:9013866C>A	ENST00000299698.7	+	28	3655	c.3475C>A	c.(3475-3477)Cag>Aag	p.Q1159K	A2ML1_ENST00000539547.1_Missense_Mutation_p.Q668K	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1003						extracellular space	endopeptidase inhibitor activity	p.Q1159K(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCTCCTTAAACAGTTAGATCA	0.438000													14	129					1.52009e-12	1.94028e-12	0.003163	1	0
TTC14	151613	broad.mit.edu	37	3	180327734	180327734	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:180327734G>A	ENST00000296015.4	+	12	1849	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	TTC14_ENST00000382584.4_Missense_Mutation_p.E573K|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	573							RNA binding	p.E573K(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACAGATAAAAGAGAAAGATAG	0.373000													31	265					0	0	0.015359	0	0
GLI2	2736	broad.mit.edu	37	2	121708991	121708991	+	Translation_Start_Site	SNP	T	T	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:121708991T>A	ENST00000314490.11	+	0	457				GLI2_ENST00000452319.1_Missense_Mutation_p.S143T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.S143T			P10070	GLI2_HUMAN	GLI family zinc finger 2						axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S143T(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCCATGATCTCTGCAGCCAG	0.677000													11	42					0	0	0.008291	0	0
SORCS1	114815	broad.mit.edu	37	10	108366980	108366980	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:108366980G>T	ENST00000263054.6	-	23	3116	c.3109C>A	c.(3109-3111)Cta>Ata	p.L1037I	SORCS1_ENST00000369698.1_Missense_Mutation_p.L572I|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.L1037I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1037						integral to membrane	neuropeptide receptor activity|protein binding	p.L1037I(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGATAGGGTAGGACAAAGAGT	0.562000													10	70					4.3838e-07	5.33532e-07	0.016723	1	0
LPHN1	22859	broad.mit.edu	37	19	14262269	14262269	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:14262269C>T	ENST00000340736.6	-	24	4138	c.3841G>A	c.(3841-3843)Gag>Aag	p.E1281K	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E1276K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1281					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.E1281K(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCATCTTCTCAAAGGCCGCC	0.652000													5	36					0	0	0.014758	0	0
GPR52	9293	broad.mit.edu	37	1	174417353	174417353	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:174417353G>C	ENST00000367685.2	+	1	142	c.104G>C	c.(103-105)aGt>aCt	p.S35T	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	35						integral to plasma membrane	G-protein coupled receptor activity	p.S35T(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GGCCACTACAGTGTGGTGGAT	0.463000													10	57					0	0	0.006214	0	0
OTOGL	283310	broad.mit.edu	37	12	80615887	80615887	+	Silent	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:80615887C>T	ENST00000458043.2	+	6	330	c.324C>T	c.(322-324)aaC>aaT	p.N108N	OTOGL_ENST00000547103.1_Silent_p.N108N	NM_173591.3	NP_775862.3			otogelin-like									p.N108N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACATGGGCAACGGCAGAGATG	0.368000													5	128					0	0	0.001984	0	0
ZNF827	152485	broad.mit.edu	37	4	146791527	146791527	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:146791527G>A	ENST00000508784.1	-	5	2078	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	ZNF827_ENST00000513320.1_Silent_p.F267F|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000379448.4_Silent_p.F617F			Q17R98	ZN827_HUMAN	zinc finger protein 827	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F617F(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTCCGGGCTGAACACATAGC	0.522000													7	104					0	0	0.004482	0	0
GMEB2	26205	broad.mit.edu	37	20	62234350	62234350	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr20:62234350C>G	ENST00000266068.1	-	3	803	c.325G>C	c.(325-327)Gtg>Ctg	p.V109L	GMEB2_ENST00000370069.1_Missense_Mutation_p.V58L|GMEB2_ENST00000370077.1_Missense_Mutation_p.V109L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	109	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	p.V109L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CCGGGACACACAAACTTCCTC	0.547000													4	116					0	0	0.014758	0	0
PRSS1	5644	broad.mit.edu	37	7	142459867	142459867	+	Missense_Mutation	SNP	C	C	A	rs149770610		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:142459867C>A	ENST00000486171.1	+	4	502	c.485C>A	c.(484-486)gCg>gAg	p.A162E	PRSS1_ENST00000311737.7_Missense_Mutation_p.A148E			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	148	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.A148E(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGCAACACTGCGAGCTCTGGC	0.577000													4	106					0.00024832	0.000282509	0.009096	1	0
NLRP3	114548	broad.mit.edu	37	1	247588806	247588806	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:247588806G>C	ENST00000366497.2	+	4	2841	c.2061G>C	c.(2059-2061)atG>atC	p.M687I	NLRP3_ENST00000366496.2_Missense_Mutation_p.M687I|NLRP3_ENST00000336119.3_Missense_Mutation_p.M687I|NLRP3_ENST00000348069.2_Missense_Mutation_p.M687I|NLRP3_ENST00000391827.2_Missense_Mutation_p.M687I|NLRP3_ENST00000391828.3_Missense_Mutation_p.M687I|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	687					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.M687I(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCATAACATGCCCAAGGAGG	0.512000													6	70					0	0	0.001168	0	0
EGFR	1956	broad.mit.edu	37	7	55249005	55249005	+	Missense_Mutation	SNP	G	G	T	rs146024686		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:55249005G>T	ENST00000275493.2	+	20	2480	c.2303G>T	c.(2302-2304)aGc>aTc	p.S768I	EGFR_ENST00000454757.2_Missense_Mutation_p.S715I|EGFR_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.S723I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	768	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S768I(24)|p.S768N(1)|p.S768_V769insVAS(1)|p.S768_V769>IL(1)|p.S768T(1)|p.A767_S768insTLA(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGATGGCCAGCGTGGACAAC	0.637000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			36	105					1.58521e-26	2.07398e-26	0.005524	1	0
GRXCR1	389207	broad.mit.edu	37	4	42895466	42895466	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:42895466G>A	ENST00000399770.2	+	1	183	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	61					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CCGATGGACAGCAGAATGGCC	0.483000													5	284					0	0	0.014758	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717050	142717050	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:142717050T>A	ENST00000381779.4	-	2	2100	c.1875A>T	c.(1873-1875)ttA>ttT	p.L625F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.L625F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.L625F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	625						integral to membrane		p.L625F(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGACCACTAAGATACTTA	0.483000													15	95					0	0	0.020292	0	0
NME8	51314	broad.mit.edu	37	7	37916489	37916489	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:37916489G>A	ENST00000199447.4	+	12	1246	c.874G>A	c.(874-876)Gat>Aat	p.D292N	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.D292N	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	292					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.D292N(1)									CATTGAAGAGGATGCAGCTAA	0.323000													3	36					0	0	0.004672	0	0
OR2T11	127077	broad.mit.edu	37	1	248790051	248790051	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:248790051G>A	ENST00000330803.2	-	1	440	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTATCTCAGAGGGTTACAG	0.547000													5	83					0	0	0.014758	0	0
OR2M7	391196	broad.mit.edu	37	1	248487204	248487204	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:248487204G>C	ENST00000317965.2	-	1	695	c.667C>G	c.(667-669)Ctg>Gtg	p.L223V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L223V(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGACAGCCAGAATAACTCGA	0.423000													5	409					0	0	0.001168	0	0
HUWE1	10075	broad.mit.edu	37	X	53672299	53672299	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:53672299C>G	ENST00000342160.3	-	6	925	c.468G>C	c.(466-468)agG>agC	p.R156S	HUWE1_ENST00000218328.8_Missense_Mutation_p.R156S|HUWE1_ENST00000262854.6_Missense_Mutation_p.R156S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	156					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.R156S(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCAGCGGGGTCCTCTTGTCAG	0.473000													4	82					0	0	0.009096	0	0
SPOCD1	90853	broad.mit.edu	37	1	32263879	32263879	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:32263879G>T	ENST00000360482.2	-	9	2203	c.2074C>A	c.(2074-2076)Ctg>Atg	p.L692M	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.L692M|SPOCD1_ENST00000257100.3_Missense_Mutation_p.L185M	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	692	TFIIS central.				transcription, DNA-dependent			p.L692M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ATCCGCACCAGGTCGTAGGGG	0.647000													16	80					2.31682e-05	2.7349e-05	0.003163	1	0
BAG3	9531	broad.mit.edu	37	10	121431869	121431869	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:121431869G>T	ENST00000369085.3	+	3	916	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	204					anti-apoptosis|apoptosis|protein folding	cytosol		p.G204W(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCTCCCGCGGGGGTACATCTC	0.647000													13	68					4.36969e-10	5.48833e-10	0.016723	1	0
NCOA7	135112	broad.mit.edu	37	6	126249904	126249904	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:126249904G>C	ENST00000368357.3	+	17	3168	c.2816G>C	c.(2815-2817)tGg>tCg	p.W939S	NCOA7_ENST00000229634.9_Missense_Mutation_p.W824S|NCOA7_ENST00000392477.2_Missense_Mutation_p.W939S	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	939	TLD.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.V233V(1)|p.W939S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CTGGAGGTGTGGGCATTTGAT	0.418000													17	64					0	0	0.006122	0	0
AKAP12	9590	broad.mit.edu	37	6	151670666	151670666	+	Silent	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:151670666C>A	ENST00000402676.2	+	4	1380	c.1140C>A	c.(1138-1140)ccC>ccA	p.P380P	AKAP12_ENST00000354675.6_Silent_p.P282P|AKAP12_ENST00000253332.1_Silent_p.P380P|AKAP12_ENST00000359755.5_Silent_p.P275P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	380	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.P380P(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTGAGCTGCCCTCAGAGGAGC	0.552000													4	57					0.000602214	0.00067534	0.014758	1	0
KMT2C	58508	broad.mit.edu	37	7	151855941	151855941	+	Splice_Site	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:151855941C>A	ENST00000355193.2	-	44	11895		c.e44+1		KMT2C_ENST00000262189.6_Intron					lysine (K)-specific methyltransferase 2C									p.?(2)									AAATGACTCACCCTCACCTGT	0.493000													20	245					1.50039e-11	1.89969e-11	0.012319	1	0
SLC26A7	115111	broad.mit.edu	37	8	92374658	92374658	+	Silent	SNP	C	C	T	rs144974209		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr8:92374658C>T	ENST00000276609.3	+	12	1631	c.1392C>T	c.(1390-1392)acC>acT	p.T464T	SLC26A7_ENST00000523719.1_Silent_p.T464T|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Silent_p.T464T	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	464						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.T464T(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGTTTGTACCATAGCTATAG	0.393000													6	148					0	0	0.001984	0	0
DACH2	117154	broad.mit.edu	37	X	86067912	86067912	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:86067912C>A	ENST00000373131.1	+	7	1418	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000510272.1_Missense_Mutation_p.L213M|DACH2_ENST00000373125.4_Missense_Mutation_p.L432M|DACH2_ENST00000508860.1_Missense_Mutation_p.L265M	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.L432M(1)|p.L419M(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAAGATACAGCTGACTCCTGG	0.448000													3	26					0.000602214	0.00067534	0.014758	1	0
NKAP	79576	broad.mit.edu	37	X	119064115	119064115	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:119064115G>C	ENST00000371410.3	-	8	1103	c.937C>G	c.(937-939)Ctg>Gtg	p.L313V	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	313	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	p.L313V(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CCAGGTAACAGAGCATGGCCA	0.378000													4	100					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:7578382G>C	ENST00000420246.2	-	5	680	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S183*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	183	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> L (in sporadic cancers; somatic mutation).|S -> P (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.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(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)		ATCGCTATCTGAGCAGCGCTC	0.647000		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)			4	49					0	0	0.009096	0	0
KRT23	25984	broad.mit.edu	37	17	39092763	39092763	+	Silent	SNP	A	A	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:39092763A>G	ENST00000209718.3	-	2	517	c.93T>C	c.(91-93)gcT>gcC	p.A31A	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	31	Head.					intermediate filament	structural molecule activity	p.A31A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGACGGTGGGAGCCCTGGGGA	0.692000													5	43					0	0	0.014758	0	0
SRGAP1	57522	broad.mit.edu	37	12	64472704	64472704	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:64472704G>A	ENST00000355086.3	+	9	1655	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	SRGAP1_ENST00000357825.3_Silent_p.K377K|SRGAP1_ENST00000543397.1_Silent_p.K337K|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	377					axon guidance	cytosol		p.K377K(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCCAGGTTAAGAAAACGACTG	0.438000													3	44					0	0	0.004672	0	0
ZGPAT	84619	broad.mit.edu	37	20	62364617	62364617	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr20:62364617C>T	ENST00000328969.5	+	3	758	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000448100.1_Nonsense_Mutation_p.Q211*|ZGPAT_ENST00000369967.3_Nonsense_Mutation_p.Q211*|ZGPAT_ENST00000357119.4_Nonsense_Mutation_p.Q211*|ZGPAT_ENST00000355969.6_Nonsense_Mutation_p.Q211*	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	211					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q211*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCGCCCCTTCCAGGACCCAGA	0.667000													4	45					0	0	0.014758	0	0
TLR4	7099	broad.mit.edu	37	9	120476638	120476638	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:120476638C>A	ENST00000355622.6	+	3	2333	c.2232C>A	c.(2230-2232)agC>agA	p.S744R	TLR4_ENST00000394487.4_Missense_Mutation_p.S704R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	744	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.S744R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCATCCAGAGCCGCTGGTGTA	0.488000													29	45					5.60225e-13	7.20945e-13	0.009535	1	0
GTF2IRD1	9569	broad.mit.edu	37	7	73973268	73973268	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:73973268G>A	ENST00000476977.1	+	21	3876	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E729K|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E744K|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E761K			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	744						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E744K(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGTGATCATCGAGGGGCTGCC	0.597000													4	60					0	0	0.009096	0	0
ATRX	546	broad.mit.edu	37	X	76937732	76937732	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:76937732C>T	ENST00000373344.5	-	9	3230	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E968K	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1006					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.E1006K(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TACTGTTGTTCCATTTTAATT	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						5	154					0	0	0.001984	0	0
FMN1	342184	broad.mit.edu	37	15	33359007	33359007	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr15:33359007C>T	ENST00000334528.9	-	1	1078	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E	FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.G360E|FMN1_ENST00000559047.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	454	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	p.G360E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGGGTCTGCTCCCTTCGGTTC	0.567000													9	118					0	0	0.006214	0	0
ADAM8	101	broad.mit.edu	37	10	135084565	135084565	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:135084565C>A	ENST00000445355.3	-	14	1434	c.1384G>T	c.(1384-1386)Gct>Tct	p.A462S	ADAM8_ENST00000415217.3_Missense_Mutation_p.A462S|ADAM8_ENST00000485491.2_Missense_Mutation_p.A423S	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	423					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	p.A462S(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGCTCACCAGCCGGCTTCACC	0.657000													7	33					8.12818e-05	9.38327e-05	0.001984	1	0
IFNL1	282618	broad.mit.edu	37	19	39789087	39789087	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:39789087G>A	ENST00000333625.2	+	5	631	c.534G>A	c.(532-534)acG>acA	p.T178T		NM_172140.1	NP_742152.1			interferon, lambda 1									p.T178T(1)									GCCTCCTCACGCGAGACCTCA	0.602000													5	121					0	0	0.014758	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984675	118984675	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:118984675C>T	ENST00000336702.3	+	12	1962	c.1603C>T	c.(1603-1605)Ctc>Ttc	p.L535F	C2CD2L_ENST00000528586.1_Missense_Mutation_p.L282F	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	534						integral to membrane		p.L535F(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCGCAGCACTCTCATCATCTC	0.587000													3	47					0	0	0.004672	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470495	25470495	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:25470495A>C	ENST00000264709.3	-	8	1316	c.979T>G	c.(979-981)Tgg>Ggg	p.W327G	DNMT3A_ENST00000380746.4_Missense_Mutation_p.W138G|DNMT3A_ENST00000321117.5_Missense_Mutation_p.W327G|DNMT3A_ENST00000402667.1_Missense_Mutation_p.W104G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	327	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W138G(1)|p.W327G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATGACCCAGCGGGTGCCT	0.622000			"""Mis, F, N, S"""		AML								16	53					0	0	0.004990	0	0
DNAH6	1768	broad.mit.edu	37	2	84804447	84804447	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:84804447G>C	ENST00000389394.3	+	13	2128	c.1991G>C	c.(1990-1992)aGa>aCa	p.R664T	DNAH6_ENST00000398278.2_Missense_Mutation_p.R664T|DNAH6_ENST00000237449.6_Missense_Mutation_p.R664T	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	664	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R243I(1)|p.R664T(1)|p.R243T(1)|p.R664I(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTAGCGCTCAGACCCACCAGA	0.343000													12	40					0	0	0.016723	0	0
PDE1B	5153	broad.mit.edu	37	12	54968993	54968993	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:54968993C>G	ENST00000243052.3	+	11	1612	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L	PDE1B_ENST00000550620.1_Missense_Mutation_p.F372L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.F351L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	392	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F392L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGGAGGAATTCTTCCGTCAGG	0.577000													3	102					0	0	0.009096	0	0
C11orf1	64776	broad.mit.edu	37	11	111750308	111750308	+	Silent	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:111750308C>T	ENST00000260276.3	+	1	361	c.24C>T	c.(22-24)tgC>tgT	p.C8C	C11orf1_ENST00000528125.1_Intron|C11orf1_ENST00000530214.1_Silent_p.C8C	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	8						nucleus		p.C8C(1)		kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		AGTGTCTCTGCTGCTCAAAAT	0.488000													47	348					0	0	0.014410	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208743	140208743	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr5:140208743C>T	ENST00000529310.1	+	1	1181	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S356F|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S356F(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCCTTATCCTTGCCTGTA	0.498000													9	150					0	0	0.020292	0	0
ZNF473	25888	broad.mit.edu	37	19	50548237	50548237	+	Silent	SNP	A	A	T	rs142027756		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:50548237A>T	ENST00000595661.1	+	6	1032	c.537A>T	c.(535-537)acA>acT	p.T179T	ZNF473_ENST00000445728.3_Silent_p.T167T|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.T179T|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Silent_p.T179T|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	179					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.T179T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGACCCTCACACCAGCTAAGT	0.458000													13	69					0	0	0.003163	0	0
ZNF428	126299	broad.mit.edu	37	19	44112203	44112203	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:44112203C>T	ENST00000300811.3	-	3	579	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	45	Glu-rich.					intracellular	zinc ion binding	p.E45K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				tcatcttcttcctcttcGGAG	0.577000													13	39					0	0	0.016723	0	0
PLSCR2	57047	broad.mit.edu	37	3	146166994	146166994	+	Splice_Site	SNP	A	A	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:146166994A>G	ENST00000497985.1	-	8	1302	c.864_splice	c.e8+1	p.I288_splice	PLSCR2_ENST00000336685.2_Splice_Site_p.I215_splice	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	215					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.I288T(1)|p.I215T(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TAGACTTACAATGAGGAAACA	0.353000													8	93					0	0	0.004482	0	0
RP2	6102	broad.mit.edu	37	X	46713257	46713257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:46713257G>A	ENST00000218340.3	+	2	610	c.449G>A	c.(448-450)tGg>tAg	p.W150*		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	150	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	p.W150*(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						TGTTTTCAATGGTACTATCCT	0.388000													6	76					0	0	0.001168	0	0
MYO16	23026	broad.mit.edu	37	13	109707855	109707855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr13:109707855C>T	ENST00000356711.2	+	27	3307	c.3181C>T	c.(3181-3183)Cag>Tag	p.Q1061*	MYO16_ENST00000457511.2_Nonsense_Mutation_p.Q573*|MYO16_ENST00000357550.2_Nonsense_Mutation_p.Q1061*	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1061	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.Q1061*(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGTGTCTGCTCAGCTACAATA	0.418000													8	121					0	0	0.006214	0	0
ACE	1636	broad.mit.edu	37	17	61559918	61559918	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:61559918C>G	ENST00000290866.4	+	8	1234	c.1210C>G	c.(1210-1212)Ctg>Gtg	p.L404V	ACE_ENST00000538928.1_Missense_Mutation_p.L404V|ACE_ENST00000428043.1_Missense_Mutation_p.L404V|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	404	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.L404V(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTACAAGGATCTGCCCGTCTC	0.597000													7	97					0	0	0.003080	0	0
TEX10	54881	broad.mit.edu	37	9	103108428	103108428	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:103108428C>T	ENST00000374902.4	-	4	1239	c.1063G>A	c.(1063-1065)Gtt>Att	p.V355I	TEX10_ENST00000537512.1_Missense_Mutation_p.V290I|TEX10_ENST00000535814.1_Missense_Mutation_p.V358I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	355						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	p.V355I(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGCTGCATAACCTGTAGAGGT	0.378000													19	39					0	0	0.007413	0	0
PNLIP	5406	broad.mit.edu	37	10	118306827	118306827	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:118306827G>A	ENST00000369221.2	+	3	96	c.68G>A	c.(67-69)aGa>aAa	p.R23K	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	23					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.R23K(4)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGCTACGAAAGACTCGGCTGC	0.428000													7	82					0	0	0.003080	0	0
ACOX3	8310	broad.mit.edu	37	4	8407736	8407736	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:8407736C>T	ENST00000356406.5	-	7	799	c.722G>A	c.(721-723)gGa>gAa	p.G241E	ACOX3_ENST00000413009.2_Missense_Mutation_p.G241E|ACOX3_ENST00000503233.1_Missense_Mutation_p.G241E	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	241					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.G241E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AACCATCACTCCAGGCATGGG	0.498000													32	280					0	0	0.019004	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			7	69					0	0	0.004482	0	0
MED13	9969	broad.mit.edu	37	17	60039133	60039133	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:60039133G>A	ENST00000397786.2	-	22	5148	c.5072C>T	c.(5071-5073)cCt>cTt	p.P1691L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1691					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P1691L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTACTGACAAGGAATAATCTA	0.373000													9	122					0	0	0.004482	0	0
ZBTB10	65986	broad.mit.edu	37	8	81426206	81426206	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr8:81426206G>T	ENST00000430430.1	+	4	2702	c.1923G>T	c.(1921-1923)ttG>ttT	p.L641F	ZBTB10_ENST00000426744.2_Missense_Mutation_p.L641F|ZBTB10_ENST00000455036.3_Missense_Mutation_p.L641F|ZBTB10_ENST00000379091.4_Missense_Mutation_p.L349F	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	641					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L641F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CAAATTTATTGGCTGAAGCTG	0.398000													7	37					0.000157383	0.000180359	0.003080	1	0
FAIM3	9214	broad.mit.edu	37	1	207085276	207085276	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:207085276C>T	ENST00000367091.3	-	4	652	c.509G>A	c.(508-510)gGc>gAc	p.G170D	FAIM3_ENST00000442471.2_Missense_Mutation_p.G58D|FAIM3_ENST00000420007.2_Missense_Mutation_p.G170D|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	170					anti-apoptosis|cellular defense response	integral to membrane		p.G170D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					AGGGACCTTGCCCCTTTGAGC	0.542000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	51					0	0	0.009096	0	0
DPYSL4	10570	broad.mit.edu	37	10	134006229	134006229	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:134006229C>G	ENST00000338492.4	+	3	360	c.196C>G	c.(196-198)Ctt>Gtt	p.L66V	DPYSL4_ENST00000368629.1_5'UTR|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	66					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.L66V(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CCTGATGGTCCTTCCTGGTGG	0.582000													3	64					0	0	0.004672	0	0
ROBO1	6091	broad.mit.edu	37	3	78649390	78649390	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:78649390C>T	ENST00000436010.2	-	28	5694	c.4697G>A	c.(4696-4698)aGc>aAc	p.S1566N	ROBO1_ENST00000464233.1_Missense_Mutation_p.S1605N|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1560N|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1505N			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1605					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.S1605N(1)|p.S1560N(1)|p.S1609N(1)|p.S1582N(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGACATTGAGCTTGAGGAACT	0.378000													8	81					0	0	0.004482	0	0
EGFR	1956	broad.mit.edu	37	7	55241708	55241708	+	Missense_Mutation	SNP	G	G	C	rs121913428		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:55241708G>C	ENST00000275493.2	+	18	2333	c.2156G>C	c.(2155-2157)gGc>gCc	p.G719A	EGFR_ENST00000454757.2_Missense_Mutation_p.G666A|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G674A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	719	Protein kinase.		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G719A(27)|p.G719D(4)|p.G719fs*29(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAGTGCTGGGCTCCGGTGCG	0.582000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			25	60					0	0	0.018920	0	0
TG	7038	broad.mit.edu	37	8	134042186	134042186	+	Missense_Mutation	SNP	G	G	A	rs144905796	byFrequency	TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr8:134042186G>A	ENST00000220616.4	+	41	7197	c.7157G>A	c.(7156-7158)cGt>cAt	p.R2386H	TG_ENST00000519543.1_Missense_Mutation_p.R519H|TG_ENST00000542445.1_Missense_Mutation_p.R756H|TG_ENST00000377869.1_Missense_Mutation_p.R2329H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2386					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R2386H(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAGCAGACCGTGGCGGGGCT	0.642000													5	60					0	0	0.001168	0	0
SMCR8	140775	broad.mit.edu	37	17	18219416	18219416	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:18219416G>A	ENST00000406438.3	+	1	793	c.313G>A	c.(313-315)Ggc>Agc	p.G105S		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	105								p.G105S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTCCTTCGTGGGCCATCCTCC	0.517000													28	171					0	0	0.006320	0	0
DSG2	1829	broad.mit.edu	37	18	29104409	29104409	+	Splice_Site	SNP	A	A	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr18:29104409A>G	ENST00000261590.8	+	7	899		c.e7-1			NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2						cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.?(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATTGCTCTGCAGGAACACAGC	0.398000													8	31					0	0	0.003080	0	0
CEP128	145508	broad.mit.edu	37	14	81251329	81251329	+	Silent	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr14:81251329C>A	ENST00000555265.1	-	15	2496	c.2121G>T	c.(2119-2121)gtG>gtT	p.V707V	CEP128_ENST00000281129.3_Silent_p.V707V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	707						centriole|spindle pole		p.V707V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTTTTGTTTTCACACTCTGCA	0.433000													44	173					2.59497e-14	3.36703e-14	0.007835	1	0
GTPBP1	9567	broad.mit.edu	37	22	39112766	39112766	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr22:39112766C>T	ENST00000216044.5	+	4	828	c.595C>T	c.(595-597)Cac>Tac	p.H199Y		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	199					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	p.H199Y(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ACTCTTCCGCCACAAACATGA	0.562000													12	58					0	0	0.016723	0	0
LIMD1	8994	broad.mit.edu	37	3	45637520	45637520	+	Silent	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:45637520C>G	ENST00000273317.4	+	1	1170	c.1149C>G	c.(1147-1149)ctC>ctG	p.L383L	LIMD1_ENST00000440097.1_Silent_p.L383L|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	383					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	p.L383L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTCCCAAGCTCAGCCCCACCA	0.617000													4	27					0	0	0.009096	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	18					0	0	0.009096	0	0
ZNF226	7769	broad.mit.edu	37	19	44681620	44681620	+	Silent	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:44681620C>T	ENST00000590089.1	+	7	2572	c.2205C>T	c.(2203-2205)gtC>gtT	p.V735V	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.V735V|ZNF226_ENST00000337433.5_Silent_p.V735V			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V735V(1)					Prostate(69;0.0352)|all_neural(266;0.202)				GTGGTAAAGTCTTCAGTCGGT	0.448000													13	142					0	0	0.016723	0	0
TEX11	56159	broad.mit.edu	37	X	69960640	69960640	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:69960640C>T	ENST00000395889.2	-	12	954	c.799G>A	c.(799-801)Gtt>Att	p.V267I	TEX11_ENST00000374333.2_Missense_Mutation_p.V252I|TEX11_ENST00000344304.3_Missense_Mutation_p.V267I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	267							protein binding	p.V252I(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGCCGTAGAACTTTAGCCTGT	0.383000													3	30					0	0	0.004672	0	0
TEKT3	64518	broad.mit.edu	37	17	15207417	15207417	+	Missense_Mutation	SNP	G	G	A	rs148345040	byFrequency	TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:15207417G>A	ENST00000395930.1	-	9	1495	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	TEKT3_ENST00000462175.1_5'UTR|TEKT3_ENST00000338696.2_Missense_Mutation_p.R437C	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	437					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.R437C(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCCCTCAGGCGCTGCTGCAGG	0.542000													6	53					0	0	0.003080	0	0
CD5	921	broad.mit.edu	37	11	60885646	60885646	+	Splice_Site	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:60885646G>C	ENST00000347785.3	+	3	260		c.e3-1			NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule						cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.?(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGACCCCCAGATTTCCAGGC	0.637000													5	94					0	0	0.001168	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603314	64603314	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:64603314G>C	ENST00000342711.5	-	14	1677	c.1678C>G	c.(1678-1680)Cag>Gag	p.Q560E		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	560					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Q560E(1)		central_nervous_system(1)|lung(3)	4						GAGGACACCTGGGCCTCCAGC	0.657000													4	7					0	0	0.014758	0	0
KRT3	3850	broad.mit.edu	37	12	53185017	53185017	+	Missense_Mutation	SNP	C	C	T	rs60410063		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:53185017C>T	ENST00000417996.2	-	7	1582	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H	KRT3_ENST00000309505.3_Missense_Mutation_p.R503H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	503	Coil 2.|Rod.		R -> P (in MECD; dbSNP:rs60410063).		epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.R503H(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CAGCAGCTTGCGGTAGGTGGC	0.607000													4	118					0	0	0.014758	0	0
POLR2H	5437	broad.mit.edu	37	3	184081293	184081293	+	Silent	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:184081293C>T	ENST00000456318.1	+	2	1062	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	POLR2H_ENST00000438240.1_Intron|POLR2H_ENST00000443489.1_5'UTR|POLR2H_ENST00000430783.1_Silent_p.L5L|POLR2H_ENST00000452961.1_5'UTR|POLR2H_ENST00000296223.3_Silent_p.L5L|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000429568.1_Silent_p.L5L	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	5					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.L5L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCGGGCATCCTGTTTGAGGA	0.572000											OREG0015950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	91					0	0	0.003163	0	0
ABCB4	5244	broad.mit.edu	37	7	87041236	87041236	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:87041236C>G	ENST00000265723.4	-	23	3008	c.2897G>C	c.(2896-2898)gGa>gCa	p.G966A	ABCB4_ENST00000358400.3_Intron|ABCB4_ENST00000453593.1_Intron|ABCB4_ENST00000359206.3_Missense_Mutation_p.G966A|ABCB4_ENST00000545634.1_Missense_Mutation_p.G966A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	966	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.G966A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCGCATATGTCCATTCACAAT	0.318000													3	32					0	0	0.004672	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	79					0	0	0.014758	0	0
KCNA7	3743	broad.mit.edu	37	19	49575293	49575293	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:49575293C>T	ENST00000221444.1	-	1	905	c.550G>A	c.(550-552)Ggc>Agc	p.G184S		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	184						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G184S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CTCACCGGGCCGGCTGCGGCT	0.706000													7	5					0	0	0.003080	0	0
RNF6	6049	broad.mit.edu	37	13	26789520	26789520	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr13:26789520C>G	ENST00000381588.4	-	5	1251	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.E167Q|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.E167Q	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	167					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	p.E167Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GTATAATCTTCTCCATGAATT	0.403000													14	110					0	0	0.016723	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660468	50660468	+	Missense_Mutation	SNP	C	C	A	rs143355923		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr22:50660468C>A	ENST00000439308.2	-	15	2965	c.2473G>T	c.(2473-2475)Gtg>Ttg	p.V825L	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V825L|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	825					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.V825L(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGGGGTGCACGCTCAAGAGG	0.607000													10	63					3.27435e-08	4.07995e-08	0.020292	1	0
GSTA1	2938	broad.mit.edu	37	6	52657701	52657701	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:52657701C>T	ENST00000334575.5	-	6	654	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	167	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.V167I(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	AGCTCCTCGACGTAGTAGAGA	0.532000													13	211					0	0	0.013537	0	0
PHC3	80012	broad.mit.edu	37	3	169840403	169840403	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:169840403A>C	ENST00000494943.1	-	9	1950	c.1882T>G	c.(1882-1884)Ttg>Gtg	p.L628V	PHC3_ENST00000495893.1_Missense_Mutation_p.L640V|PHC3_ENST00000467570.1_Missense_Mutation_p.L587V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	628	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.L640V(1)|p.L609V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TCAGAAGTCAAATCTTCTCCT	0.388000													15	80					0	0	0.006122	0	0
MCOLN3	55283	broad.mit.edu	37	1	85487776	85487776	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:85487776C>T	ENST00000370589.2	-	11	1349	c.1297G>A	c.(1297-1299)Gtg>Atg	p.V433M	MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.V377M	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	433						integral to membrane	ion channel activity	p.V433M(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GGCCCCAGCACGATCCATCCA	0.448000													6	76					0	0	0.001984	0	0
TOMM70A	9868	broad.mit.edu	37	3	100093992	100093992	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:100093992C>T	ENST00000284320.5	-	7	1545	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	366					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.R366L(1)|p.R366Q(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						AGCATTTGCTCGAAGCTATAT	0.398000													7	142					0	0	0.001984	0	0
ZNF304	57343	broad.mit.edu	37	19	57869098	57869098	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:57869098G>C	ENST00000391705.3	+	4	2145	c.1861G>C	c.(1861-1863)Ggg>Cgg	p.G621R	ZNF304_ENST00000598744.1_Missense_Mutation_p.G579R|ZNF304_ENST00000282286.5_Missense_Mutation_p.G621R|ZNF304_ENST00000443917.2_Missense_Mutation_p.G668R	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G621R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CAGCGAATGTGGGAAAGCCTA	0.502000													23	114					0	0	0.012319	0	0
COL4A5	1287	broad.mit.edu	37	X	107802324	107802324	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:107802324C>T	ENST00000328300.6	+	3	416	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	COL4A5_ENST00000361603.2_Missense_Mutation_p.H58Y	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	58	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.H58Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTGGAAGGACACCCAGGATT	0.468000									Alport syndrome with Diffuse Leiomyomatosis				5	164					0	0	0.014758	0	0
ODF2	4957	broad.mit.edu	37	9	131219701	131219701	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:131219701C>T	ENST00000434106.2	+	2	380	c.17C>T	c.(16-18)tCa>tTa	p.S6L	ODF2_ENST00000351030.3_Intron|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000303890.5_5'UTR|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000372796.4_Missense_Mutation_p.S6L|ODF2_ENST00000372791.3_Missense_Mutation_p.S6L|ODF2_ENST00000546203.1_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	6					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.S6L(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCCTCATCCTCAGGCGGCTCC	0.657000													6	117					0	0	0.004482	0	0
CCR6	1235	broad.mit.edu	37	6	167550481	167550481	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:167550481G>C	ENST00000341935.5	+	3	1315	c.763G>C	c.(763-765)Gta>Cta	p.V255L	CCR6_ENST00000349984.4_Missense_Mutation_p.V255L|CCR6_ENST00000400926.2_Missense_Mutation_p.V255L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	255					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	p.V255L(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		AGCCATCCGTGTAATCATAGC	0.418000													5	71					0	0	0.014758	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453666	100453666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:100453666C>A	ENST00000279907.7	-	13	1917	c.1705G>T	c.(1705-1707)Gag>Tag	p.E569*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.E219*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	569								p.E569*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCAACATGCTCGTCAGATTTT	0.308000													4	63					1.23904e-05	1.47371e-05	0.014758	1	0
GABRG3	2567	broad.mit.edu	37	15	27772717	27772717	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr15:27772717C>T	ENST00000333743.6	+	8	1258	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	335					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.A335V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATGGAGTATGCCACCCTCAAC	0.547000													3	25					0	0	0.004672	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148796218	148796218	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:148796218T>C	ENST00000336498.3	+	8	988	c.749T>C	c.(748-750)aTg>aCg	p.M250T		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	250	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	p.M250T(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGAGCTCATGAACAAAATC	0.418000													3	31					0	0	0.004672	0	0
GPR34	2857	broad.mit.edu	37	X	41555240	41555240	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:41555240C>G	ENST00000378142.4	+	3	638	c.354C>G	c.(352-354)aaC>aaG	p.N118K	CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.N118K|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	118						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.N118K(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TTAACCAAAACAAGTGGACAC	0.368000													9	212					0	0	0.006214	0	0
SLC7A2	6542	broad.mit.edu	37	8	17421114	17421114	+	Silent	SNP	T	T	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr8:17421114T>C	ENST00000470360.1	+	13	1908	c.1791T>C	c.(1789-1791)gtT>gtC	p.V597V	SLC7A2_ENST00000398090.3_Silent_p.V597V|SLC7A2_ENST00000004531.10_Silent_p.V598V|SLC7A2_ENST00000522656.1_Silent_p.V558V|SLC7A2_ENST00000494857.1_Silent_p.V558V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	558					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	p.V597V(1)|p.V558V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCCTCAGGTTCCATTCTTAC	0.393000													6	117					0	0	0.001168	0	0
DACH2	117154	broad.mit.edu	37	X	86069769	86069769	+	Missense_Mutation	SNP	G	G	T	rs143491219		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:86069769G>T	ENST00000373131.1	+	9	1740	c.1577G>T	c.(1576-1578)cGc>cTc	p.R526L	DACH2_ENST00000477378.2_Intron|DACH2_ENST00000510272.1_Missense_Mutation_p.R320L|DACH2_ENST00000373125.4_Missense_Mutation_p.R539L|DACH2_ENST00000508860.1_Missense_Mutation_p.R372L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	539	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.R526L(1)|p.R539L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAATCAAAGCGCCGGGAGCAA	0.438000													5	56					5.9392e-07	7.17273e-07	0.001168	1	0
CDCA7	83879	broad.mit.edu	37	2	174229553	174229553	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:174229553C>T	ENST00000306721.3	+	6	833	c.730C>T	c.(730-732)Ccg>Tcg	p.P244S	CDCA7_ENST00000347703.3_Missense_Mutation_p.P165S|CDCA7_ENST00000410019.3_Missense_Mutation_p.P123S|CDCA7_ENST00000392567.2_Missense_Mutation_p.P165S|CDCA7_ENST00000410101.3_Missense_Mutation_p.P200S	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	165					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.P244S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GCGTACATTCCCGGGTGTTGC	0.498000													16	65					0	0	0.007413	0	0
RFXANK	8625	broad.mit.edu	37	19	19312474	19312474	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:19312474G>A	ENST00000303088.4	+	10	1203	c.729G>A	c.(727-729)gaG>gaA	p.E243E	RFXANK_ENST00000407360.3_Silent_p.E243E|RFXANK_ENST00000456252.3_Silent_p.E221E|RFXANK_ENST00000392324.4_Silent_p.E220E|RFXANK_ENST00000353145.1_Silent_p.E220E|NR2C2AP_ENST00000420605.2_Intron|NR2C2AP_ENST00000331552.6_3'UTR|NR2C2AP_ENST00000544883.1_3'UTR|NR2C2AP_ENST00000590907.2_Intron	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	243						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E243E(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			AGGTGATCGAGAACCACATCC	0.597000													6	111					0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141526893	141526893	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:141526893A>G	ENST00000389484.3	-	35	6618	c.5647T>C	c.(5647-5649)Tac>Cac	p.Y1883H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1883					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Y1883H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAACAGAGTACATAAGAAAT	0.383000										TSP Lung(27;0.18)			11	32					0	0	0.016723	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68691511	68691511	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:68691511C>T	ENST00000283916.6	-	9	1132	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G228E	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	345	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G345E(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CAAGATGGCTCCATTATAACT	0.438000													4	70					0	0	0.009096	0	0
TENM4	26011	broad.mit.edu	37	11	78413335	78413335	+	Silent	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:78413335G>T	ENST00000278550.7	-	28	4785	c.4323C>A	c.(4321-4323)gtC>gtA	p.V1441V		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.V1441V(2)									GCCTCCCGGCGACAATGCGCA	0.567000													11	90					4.68919e-08	5.79687e-08	0.008291	1	0
CA1	759	broad.mit.edu	37	8	86242016	86242016	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr8:86242016C>G	ENST00000523953.1	-	8	1617	c.571G>C	c.(571-573)Gat>Cat	p.D191H	CA1_ENST00000523022.1_Missense_Mutation_p.D191H|CA1_ENST00000432364.2_Missense_Mutation_p.D191H|CA1_ENST00000522389.1_Missense_Mutation_p.D57H|CA1_ENST00000431316.1_Missense_Mutation_p.D191H|CA1_ENST00000256119.5_Missense_Mutation_p.D191H|CA1_ENST00000542576.1_Missense_Mutation_p.D191H			P00915	CAH1_HUMAN	carbonic anhydrase I	191					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	p.D191H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCAGAAATCCAGGGATGAA	0.448000													3	14					0	0	0.004672	0	0
NAALAD2	10003	broad.mit.edu	37	11	89883707	89883707	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:89883707G>C	ENST00000534061.1	+	5	771	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	NAALAD2_ENST00000525171.1_Missense_Mutation_p.E181Q|NAALAD2_ENST00000375944.3_Missense_Mutation_p.E181Q|NAALAD2_ENST00000321955.4_Missense_Mutation_p.E181Q	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	181					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.E181Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTAGAAAGAGAGATGGGCAT	0.318000													4	72					0	0	0.014758	0	0
ETNPPL	64850	broad.mit.edu	37	4	109665008	109665008	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:109665008T>A	ENST00000296486.3	-	12	1462	c.1308A>T	c.(1306-1308)ttA>ttT	p.L436F	ETNPPL_ENST00000411864.2_Missense_Mutation_p.L430F|ETNPPL_ENST00000510706.1_Missense_Mutation_p.L396F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.L378F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.L436F(1)									TAGCTTCTTCTAAAACTGAAT	0.338000													6	57					0	0	0.001984	0	0
ACSL6	23305	broad.mit.edu	37	5	131309043	131309043	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr5:131309043G>A	ENST00000379264.2	-	12	1227	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	ACSL6_ENST00000544770.1_Silent_p.I257I|ACSL6_ENST00000379240.1_Silent_p.I348I|ACSL6_ENST00000379255.1_Silent_p.I273I|ACSL6_ENST00000357096.1_Silent_p.I273I|ACSL6_ENST00000379249.3_Silent_p.I348I|ACSL6_ENST00000296869.4_Silent_p.I373I|ACSL6_ENST00000543479.1_Silent_p.I348I|ACSL6_ENST00000379272.2_Silent_p.I363I|ACSL6_ENST00000431707.1_Silent_p.I328I|ACSL6_ENST00000379244.1_Silent_p.I348I|ACSL6_ENST00000379246.1_Silent_p.I359I	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	348					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.I373I(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAGAAGGCGGATATCTCCCT	0.547000													6	35					0	0	0.001984	0	0
KCNMA1	3778	broad.mit.edu	37	10	78674704	78674704	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:78674704G>A	ENST00000286627.5	-	23	3784	c.2832C>T	c.(2830-2832)atC>atT	p.I944I	KCNMA1_ENST00000406533.3_Silent_p.I1006I|KCNMA1_ENST00000372443.1_Silent_p.I944I|KCNMA1_ENST00000404771.3_Silent_p.I1002I|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286628.8_Silent_p.I1002I|KCNMA1_ENST00000372440.1_Silent_p.I944I|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Silent_p.I985I|KCNMA1_ENST00000354353.5_Silent_p.I1005I	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1002					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.I1006I(1)|p.I944I(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTAGTTCAGTGATGATGGGGA	0.473000													10	233					0	0	0.020292	0	0
LRRC66	339977	broad.mit.edu	37	4	52860582	52860582	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:52860582G>T	ENST00000343457.3	-	4	2612	c.2606C>A	c.(2605-2607)gCt>gAt	p.A869D		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	869						integral to membrane		p.A869D(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGGAAGGCAGCCTTATCAGG	0.373000													4	57					1.23904e-05	1.47371e-05	0.014758	1	0
RAG1	5896	broad.mit.edu	37	11	36597424	36597424	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:36597424C>T	ENST00000299440.5	+	2	2682	c.2570C>T	c.(2569-2571)gCc>gTc	p.A857V		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	857					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.A857V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGCAACTTTGCCAGGAAGCTC	0.498000									Familial Hemophagocytic Lymphohistiocytosis				4	84					0	0	0.009096	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156807	26156807	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:26156807G>A	ENST00000304218.3	+	1	249	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	63	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.K63K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCGCTCTCAAGAAAGCGCTGG	0.617000													7	59					0	0	0.001984	0	0
BRINP3	339479	broad.mit.edu	37	1	190068056	190068056	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:190068056T>A	ENST00000367462.3	-	8	1624	c.1393A>T	c.(1393-1395)Acc>Tcc	p.T465S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.T363S	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		465						extracellular region		p.T465S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATGTAGCCGGTGTTGCAGGTG	0.607000													9	124					0	0	0.008291	0	0
NLRP5	126206	broad.mit.edu	37	19	56539579	56539579	+	Silent	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:56539579G>C	ENST00000390649.3	+	7	1980	c.1980G>C	c.(1978-1980)ggG>ggC	p.G660G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	660						mitochondrion|nucleolus	ATP binding	p.G660G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCCCCTGGGGGTGAAGCAGA	0.577000													11	89					0	0	0.013537	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212521742	212521742	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:212521742G>C	ENST00000261461.2	+	7	1350	c.776G>C	c.(775-777)gGc>gCc	p.G259A	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.G202A	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	259					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	p.G259A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		ATTATCAATGGCTTTGCATTG	0.373000													3	70					0	0	0.009096	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859288	149859288	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:149859288G>C	ENST00000331128.3	-	1	178	c.179C>G	c.(178-180)aCc>aGc	p.T60S		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	60					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T60S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AATTTCCGCGGTCAGGTACTC	0.662000													12	83					0	0	0.013537	0	0
PKD1	5310	broad.mit.edu	37	16	2160594	2160594	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr16:2160594A>C	ENST00000262304.4	-	15	4782	c.4574T>G	c.(4573-4575)gTt>gGt	p.V1525G	PKD1_ENST00000423118.1_Missense_Mutation_p.V1525G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1525	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.V1525G(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCCACCCTAACGGTGAAGTC	0.677000													14	33					0	0	0.020292	0	0
PARP8	79668	broad.mit.edu	37	5	50111358	50111358	+	Splice_Site	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr5:50111358G>A	ENST00000281631.5	+	15	1826	c.1668_splice	c.e15+1	p.Q556_splice	PARP8_ENST00000514067.2_Splice_Site_p.Q556_splice|PARP8_ENST00000514342.2_Splice_Site_p.Q309_splice|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Splice_Site_p.Q556_splice|PARP8_ENST00000505554.1_Splice_Site_p.Q535_splice|PARP8_ENST00000503750.2_Splice_Site_p.Q556_splice	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	556						intracellular	NAD+ ADP-ribosyltransferase activity	p.Q556Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTGGAGCTCAGGTAGTAACAC	0.378000													3	37					0	0	0.004672	0	0
NRIP1	8204	broad.mit.edu	37	21	16338607	16338607	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr21:16338607T>C	ENST00000400202.1	-	3	2619	c.1907A>G	c.(1906-1908)cAa>cGa	p.Q636R	NRIP1_ENST00000400199.1_Missense_Mutation_p.Q636R|NRIP1_ENST00000318948.4_Missense_Mutation_p.Q636R			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	636	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.Q636R(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CATTCCACATTGTGCTAAATT	0.428000													8	130					0	0	0.004482	0	0
ODF2	4957	broad.mit.edu	37	9	131223324	131223324	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:131223324G>T	ENST00000434106.2	+	4	590	c.227G>T	c.(226-228)cGg>cTg	p.R76L	ODF2_ENST00000351030.3_Missense_Mutation_p.R71L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000393533.2_Missense_Mutation_p.R76L|ODF2_ENST00000372807.5_Missense_Mutation_p.R71L|ODF2_ENST00000535026.1_Missense_Mutation_p.R71L|ODF2_ENST00000303890.5_Intron|ODF2_ENST00000372814.3_Missense_Mutation_p.R120L|ODF2_ENST00000372796.4_Missense_Mutation_p.R76L|ODF2_ENST00000444119.2_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000546203.1_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	76					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.R120L(1)|p.R76L(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TCATCTGCCCGGCCTGTGGGA	0.572000													16	28					6.31663e-08	7.74774e-08	0.003163	1	0
PLSCR2	57047	broad.mit.edu	37	3	146167007	146167007	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:146167007C>G	ENST00000497985.1	-	8	1289	c.850G>C	c.(850-852)Gcc>Ccc	p.A284P	PLSCR2_ENST00000336685.2_Missense_Mutation_p.A211P	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	211					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.A284P(1)|p.A211P(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AGGAAACAGGCACCAATCATC	0.368000													11	106					0	0	0.008291	0	0
SLTM	79811	broad.mit.edu	37	15	59192058	59192058	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr15:59192058T>C	ENST00000380516.2	-	7	755	c.668A>G	c.(667-669)cAc>cGc	p.H223R	SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	223	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.H223R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGAGCTGTGTGATCAGCCTC	0.453000													4	88					0	0	0.009096	0	0
KLHL20	27252	broad.mit.edu	37	1	173735414	173735414	+	Silent	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:173735414C>T	ENST00000209884.4	+	8	1417	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	KLHL20_ENST00000546011.1_Silent_p.L238L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	427					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.L427L(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGTCTTGCCTCAACATTGTTG	0.428000													9	145					0	0	0.004482	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													4	9	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974763	21974763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:21974763delG	ENST00000304494.5	-	1	334	c.64delC	c.(64-66)ggfs	p.R22fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.R22fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R22fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	22					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.?(23)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(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)		ACCCGACCCCGGGCCGCGGCC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	56	---	---	---	---					
LDHA	3939	broad.mit.edu	37	11	18427087	18427087	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:18427087delA	ENST00000422447.3	+	7	1075	c.802delA	c.(802-804)ggfs	p.R269fs	LDHA_ENST00000396222.2_Intron|LDHA_ENST00000379412.5_Frame_Shift_Del_p.R269fs|LDHA_ENST00000430553.2_Frame_Shift_Del_p.R211fs|LDHA_ENST00000227157.4_Intron|LDHA_ENST00000542179.1_Frame_Shift_Del_p.R269fs|LDHA_ENST00000540430.1_Frame_Shift_Del_p.R298fs	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	269					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	GAAGAATCTTAGGCGGGTGCA	0.413													11	127	---	---	---	---					
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	RNA	INS	-	-	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371													4	5	---	---	---	---