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
MUTYH	4595	broad.mit.edu	37	1	45797465	45797465	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:45797465T>A	uc001cnm.3	-	11	1261	c.1045A>T	c.(1045-1047)Acc>Tcc	p.T349S	MUTYH_uc001cnf.3_Missense_Mutation_p.T324S|MUTYH_uc009vxo.3_Missense_Mutation_p.T324S|MUTYH_uc001cng.3_Missense_Mutation_p.T335S|MUTYH_uc001cnj.3_Missense_Mutation_p.T232S|MUTYH_uc001cni.3_Missense_Mutation_p.T324S|MUTYH_uc001cnh.3_Missense_Mutation_p.T325S|MUTYH_uc001cnl.3_Missense_Mutation_p.T338S|MUTYH_uc009vxp.3_Missense_Mutation_p.T352S|MUTYH_uc001cnn.3_Missense_Mutation_p.T339S|MUTYH_uc001cno.3_Missense_Mutation_p.T232S|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	349					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACTCCCAGGGTCTGGTCCCAG	0.652			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis			
NBPF10	100132406	broad.mit.edu	37	1	145328401	145328406	+	In_Frame_Del	DEL	GAAGAC	GAAGAC	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:145328401_145328406delGAAGAC	uc021oul.1	+	32	4284_4289	c.4249_4254delGAAGAC	c.(4249-4254)gaagacdel	p.ED1419del	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1419										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAGAGGAAGAAGACGAAGACCAAG	0.466												
CTSK	1513	broad.mit.edu	37	1	150771721	150771721	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:150771721G>A	uc001evp.2	-	6	1042	c.813C>T	c.(811-813)agC>agT	p.S271S		NM_000396	NP_000387	P43235	CATK_HUMAN	Homo sapiens cathepsin K (CTSK), mRNA.	271					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAGATTATCGCTATTGCAGC	0.433												
FCRL1	115350	broad.mit.edu	37	1	157772382	157772382	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:157772382A>C	uc001frg.3	-	3	505	c.392T>G	c.(391-393)gTc>gGc	p.V131G	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Missense_Mutation_p.V131G|FCRL1_uc001fri.3_Missense_Mutation_p.V131G|FCRL1_uc001frj.3_Intron	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	131	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAGATGAGGACCAGCCTGTC	0.542												
HMCN1	83872	broad.mit.edu	37	1	186097315	186097315	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:186097315C>A	uc001grq.1	+	82	13025	c.12796C>A	c.(12796-12798)Cct>Act	p.P4266T	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4266	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACTGAACTTCCTGGAGACGT	0.418												
CACNA1S	779	broad.mit.edu	37	1	201021762	201021762	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:201021762G>A	uc001gvv.3	-	31	4103	c.3876C>T	c.(3874-3876)atC>atT	p.I1292I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1292					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCACCAAGGCGATCTTCCCAA	0.557												
IBA57	200205	broad.mit.edu	37	1	228362831	228362831	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:228362831G>A	uc001hsl.4	+	2	777	c.688G>A	c.(688-690)Gag>Aag	p.E230K	IBA57_uc010pvw.2_Missense_Mutation_p.E37K	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	230					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGGCGTTCCTGAGGGGGTCCG	0.627												
PCDH15	65217	broad.mit.edu	37	10	55591167	55591167	+	Silent	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr10:55591167T>C	uc010qhy.1	-	30	4520	c.4125A>G	c.(4123-4125)ctA>ctG	p.L1375L	PCDH15_uc010qhq.2_Silent_p.L1375L|PCDH15_uc010qhr.2_Silent_p.L1370L|PCDH15_uc021pqv.1_Silent_p.L1370L|PCDH15_uc021pqw.1_Silent_p.L1382L|PCDH15_uc010qht.2_Silent_p.L1377L|PCDH15_uc021pqx.1_Silent_p.L1370L|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.L1370L|PCDH15_uc021pqz.1_Silent_p.L1348L|PCDH15_uc010qhv.1_Silent_p.L1370L|PCDH15_uc010qhw.1_Silent_p.L1333L|PCDH15_uc010qhx.1_Silent_p.L1299L|PCDH15_uc010qhz.1_Silent_p.L1370L|PCDH15_uc010qia.1_Silent_p.L1348L|PCDH15_uc001jju.1_Silent_p.L1370L|PCDH15_uc010qib.1_Silent_p.L1348L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1370					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGTATCCTAGACTTTCTC	0.483										HNSCC(58;0.16)		
PLA2G16	11145	broad.mit.edu	37	11	63381479	63381479	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr11:63381479G>A	uc001nxh.2	-	0	431	c.8C>T	c.(7-9)gCg>gTg	p.A3V	PLA2G16_uc001nxi.2_Missense_Mutation_p.R32C|PLA2G16_uc009you.1_Missense_Mutation_p.A3V	NM_007069	NP_009000	P53816	PAG16_HUMAN	Homo sapiens phospholipase A2, group XVI (PLA2G16), transcript variant 1, mRNA.	3					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TACAATGGGCGCACGCATCTT	0.617												
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr11:108788635_108788637delTGA	uc001pkm.3	+	16	2405_2407	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_uc001pkl.1_In_Frame_Del_p.D788del	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	788							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*							
ANO6	196527	broad.mit.edu	37	12	45823037	45823037	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:45823037G>A	uc010slf.2	+	20	3074	c.2739G>A	c.(2737-2739)gtG>gtA	p.V913V	ANO6_uc001roo.3_Silent_p.V892V|ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slg.2_Silent_p.V874V	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	892					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATATGGGGGTGATAGCTGAGC	0.373												
STAT6	6778	broad.mit.edu	37	12	57490672	57490672	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:57490672C>T	uc009zpg.3	-	20	2464	c.2462G>A	c.(2461-2463)tGc>tAc	p.C821Y	STAT6_uc009zpe.3_Missense_Mutation_p.C772Y|STAT6_uc001sna.3_Missense_Mutation_p.C772Y|STAT6_uc009zpf.3_Missense_Mutation_p.C772Y|STAT6_uc010srb.2_Missense_Mutation_p.C662Y|STAT6_uc010src.2_Missense_Mutation_p.C662Y|STAT6_uc010srd.2_Missense_Mutation_p.C662Y	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	772					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTGGCTCAGGCAGCTGTCTTC	0.642												
OSBPL8	114882	broad.mit.edu	37	12	76791554	76791554	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:76791554T>C	uc001sye.1	-	7	1072	c.592A>G	c.(592-594)Atc>Gtc	p.I198V	OSBPL8_uc001syf.1_Missense_Mutation_p.I156V|OSBPL8_uc001syg.1_Missense_Mutation_p.I156V|OSBPL8_uc001syh.1_Missense_Mutation_p.I173V	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	198	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CGTTCAATGATTTCACAGGCA	0.408												
EP400	57634	broad.mit.edu	37	12	132551418	132551418	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:132551418G>A	uc001ujn.3	+	48	8805	c.8653G>A	c.(8653-8655)Gtc>Atc	p.V2885I	EP400_uc021rgq.1_Missense_Mutation_p.V2884I|EP400_uc001ujm.3_Missense_Mutation_p.V2804I|EP400_uc001ujp.3_Missense_Mutation_p.V95I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2921					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.V2884I(2)|p.P2885P(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGTGGTGTCCGTCCCGGCAGC	0.682												
LMO7	4008	broad.mit.edu	37	13	76287343	76287343	+	Missense_Mutation	SNP	C	C	A	rs75385907		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr13:76287343C>A	uc021rkq.1	+	1	430	c.95C>A	c.(94-96)aCa>aAa	p.T32K	LMO7_uc010thv.2_Missense_Mutation_p.T84K|LMO7_uc001vjt.1_Missense_Mutation_p.T32K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	84						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATTTTGAAACAAAAGATTTT	0.318												
OR11G2	390439	broad.mit.edu	37	14	20666093	20666093	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:20666093A>G	uc010tlb.2	+	0	599	c.599A>G	c.(598-600)aAc>aGc	p.N200S		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V199I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCTATCGTCAACATCTCCCAA	0.448												
AKAP5	9495	broad.mit.edu	37	14	64936331	64936331	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:64936331T>C	uc021ruk.1	+	0	1219	c.1219T>C	c.(1219-1221)Tca>Cca	p.S407P	ZBTB25_uc001xhc.3_Intron|AKAP5_uc001xhd.4_Missense_Mutation_p.S407P	NM_004857	NP_004848	P24588	AKAP5_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 5 (AKAP5), mRNA.	407				S -> Y (in Ref. 3).	energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TATTCAGTTGTCAATAGAACA	0.348												
HEATR4	399671	broad.mit.edu	37	14	73989140	73989140	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:73989140C>A	uc021rwe.1	-	2	1065	c.717G>T	c.(715-717)caG>caT	p.Q239H	HEATR4_uc021rwf.1_Missense_Mutation_p.Q192H|HEATR4_uc010tub.1_Missense_Mutation_p.Q239H	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGTCGTACTGCTGGCGCAGGA	0.582												
LTBP2	4053	broad.mit.edu	37	14	74974771	74974771	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:74974771G>A	uc001xqa.3	-	24	4067	c.3680C>T	c.(3679-3681)cCg>cTg	p.P1227L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1227	Cys-rich.|EGF-like 13; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCCACACACGGGTCTGTGGT	0.582												
RYR3	6263	broad.mit.edu	37	15	33999198	33999198	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:33999198A>G	uc001zhi.3	+	42	6632	c.6562A>G	c.(6562-6564)Aac>Gac	p.N2188D	RYR3_uc010bar.3_Missense_Mutation_p.N2188D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2188	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.W2187C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTCGGCTGGAACCCCATTGA	0.517												
ATP8B4	79895	broad.mit.edu	37	15	50190419	50190419	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:50190419A>T	uc001zxu.3	-	21	2461	c.2319T>A	c.(2317-2319)aaT>aaA	p.N773K	ATP8B4_uc010ber.3_Missense_Mutation_p.N646K|ATP8B4_uc010ufd.2_Missense_Mutation_p.N583K|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.N71K	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	773					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTAGGAGATCATTCTTGACAT	0.398												
C15orf60	283677	broad.mit.edu	37	15	73832877	73832877	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:73832877G>A	uc002avq.3	+	2	329	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	C15orf60_uc010bjb.3_Intron	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	Homo sapiens chromosome 15 open reading frame 60 (C15orf60), mRNA.	101										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TGTAAGACGCGTGGATTGTCT	0.383												
KIAA1199	57214	broad.mit.edu	37	15	81213426	81213426	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:81213426C>T	uc002bfw.1	+	14	2317	c.2057C>T	c.(2056-2058)gCc>gTc	p.A686V	KIAA1199_uc010unn.1_Missense_Mutation_p.A686V	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	686								p.A686V(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCAACTGTGCCGCTGCAGGA	0.547												
RHBDL1	9028	broad.mit.edu	37	16	727863	727863	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:727863G>A	uc002cis.1	+	6	1155	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	RHBDL1_uc002cir.1_Silent_p.A311A|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.3_5'Flank|STUB1_uc002ciu.3_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	376					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCTTCATGGCGCACCTGGCAG	0.736												
KIAA0430	9665	broad.mit.edu	37	16	15690712	15690712	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:15690712C>T	uc002ddr.3	-	26	5274	c.5067G>A	c.(5065-5067)tcG>tcA	p.S1689S	KIAA0430_uc002ddq.3_Silent_p.S1523S|KIAA0430_uc010uzv.2_Silent_p.S1686S|KIAA0430_uc010uzw.2_Silent_p.S1689S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1688	Poly-Ser.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGATGCAGGACGAGCTGGAGT	0.507												
ITGAX	3687	broad.mit.edu	37	16	31388543	31388543	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:31388543C>A	uc002ebt.3	+	22	2813	c.2746C>A	c.(2746-2748)Ctg>Atg	p.L916M	ITGAX_uc002ebu.1_Missense_Mutation_p.L916M	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	916					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACCTTCCAGCTGGAGCTCCC	0.537												
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:7577580T>C	uc002gim.2	-	6	895	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> 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.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(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)		CATGTAGTTGTAGTGGATGGT	0.572		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)		
NF1	4763	broad.mit.edu	37	17	29667528	29667528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:29667528delG	uc002hgg.3	+	46	7310	c.6927delG	c.(6925-6927)tcgfs	p.S2309fs	NF1_uc002hgh.3_Frame_Shift_Del_p.S2288fs|NF1_uc010cso.3_Frame_Shift_Del_p.S497fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2309					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S2309S(2)|p.D2308fs*11(1)|p.P2310fs*11(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCCAGGACTCGCCTCTGCACA	0.443			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
KRT31	3881	broad.mit.edu	37	17	39551111	39551111	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:39551111G>A	uc002hwn.3	-	5	1139	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	KRT31_uc010cxn.3_Silent_p.S362S	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	362	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGCAGTCCTCGCTCTCCAGCA	0.532												
MMD	23531	broad.mit.edu	37	17	53471726	53471726	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:53471726C>T	uc002iui.3	-	6	971	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.	229					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGTAGGACTTCGGTAAAGGTA	0.463												
KCNH6	81033	broad.mit.edu	37	17	61611547	61611547	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:61611547A>G	uc002jay.3	+	4	1056	c.976A>G	c.(976-978)Acc>Gcc	p.T326A	KCNH6_uc002jax.1_Missense_Mutation_p.T326A|KCNH6_uc010wpl.2_Missense_Mutation_p.T203A|KCNH6_uc010wpm.2_Missense_Mutation_p.T326A|KCNH6_uc002jaz.1_Missense_Mutation_p.T326A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	326					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTATGTCAACACCAATGATGA	0.567												
DNMT1	1786	broad.mit.edu	37	19	10288042	10288042	+	Silent	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:10288042A>G	uc002mng.3	-	5	626	c.446_splice	c.e5-1	p.P149_splice	DNMT1_uc010xlc.2_Splice_Site_p.A165_splice|DNMT1_uc002mnh.3_Splice_Site_p.A44_splice|DNMT1_uc010xld.2_Splice_Site_p.P149_splice|DNMT1_uc010dxb.1_Splice_Site	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	149	Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GTGAAGGTTCAGCTGTTTAAA	0.398												
PLEKHG2	64857	broad.mit.edu	37	19	39915859	39915859	+	Silent	SNP	T	T	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:39915859T>G	uc010xuz.2	+	18	4411	c.4086T>G	c.(4084-4086)gcT>gcG	p.A1362A	PLEKHG2_uc010xuy.2_Intron|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.A1140A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1362					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCACCCTGCTCTCTTGGCCT	0.652												
NLRP13	126204	broad.mit.edu	37	19	56423467	56423467	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:56423467G>A	uc010ygg.2	-	4	1741	c.1716C>T	c.(1714-1716)caC>caT	p.H572H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	572							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGCAAGACGTGTTGCAGTA	0.423												
TMEM18	129787	broad.mit.edu	37	2	669581	669581	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:669581C>T	uc002qwl.3	-	4	516	c.422G>A	c.(421-423)tGa>tAa	p.*141*	TMEM18_uc002qwk.3_Non-coding_Transcript	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	Homo sapiens transmembrane protein 18 (TMEM18), mRNA.	0					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		TGCTGCCCCTCAGTCttcttt	0.512												
GREB1	9687	broad.mit.edu	37	2	11750922	11750922	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:11750922G>A	uc002rbk.1	+	17	3075	c.2775G>A	c.(2773-2775)tcG>tcA	p.S925S	GREB1_uc002rbo.1_Silent_p.S559S|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	925						integral to membrane		p.S925S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTACACGTCGGTGGAGACGC	0.657												
APOB	338	broad.mit.edu	37	2	21225763	21225763	+	Silent	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:21225763T>C	uc002red.3	-	28	12659	c.12531A>G	c.(12529-12531)cgA>cgG	p.R4177R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4177					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTGAGTAACTCGTACCAAGC	0.463												
MZT2A	653784	broad.mit.edu	37	2	132241729	132241729	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:132241729C>T	uc002tsw.4	-	2	497	c.382G>A	c.(382-384)Gag>Aag	p.E128K	MZT2A_uc002tsv.4_Non-coding_Transcript	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN	Homo sapiens mitotic spindle organizing protein 2A (MZT2A), mRNA.	128						centrosome|gamma-tubulin ring complex|spindle				breast(1)|lung(1)	2						CTGGATCCCTCGTGGTTGCTG	0.642												
FMNL2	114793	broad.mit.edu	37	2	153399316	153399316	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:153399316C>T	uc002tye.3	+	2	632	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	89	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTATCTGGATCCAGCTGTAAC	0.433												
ACVR1C	130399	broad.mit.edu	37	2	158485147	158485147	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:158485147C>T	uc002tzk.4	-	0	253	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	ACVR1C_uc002tzl.4_Missense_Mutation_p.A4T|ACVR1C_uc010fof.3_Missense_Mutation_p.A4T	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	4					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAGCAGAGCGCCCGGGTCATC	0.751												
CPS1	1373	broad.mit.edu	37	2	211476895	211476895	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:211476895T>C	uc010fur.3	+	20	2546	c.2464T>C	c.(2464-2466)Tgc>Cgc	p.C822R	CPS1_uc002vee.4_Missense_Mutation_p.C816R|CPS1_uc010fus.3_Missense_Mutation_p.C365R	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	816					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTACGGATGTGCCACCCATC	0.413												
CYP27A1	1593	broad.mit.edu	37	2	219677652	219677652	+	Missense_Mutation	SNP	A	A	C	rs72551319		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:219677652A>C	uc002viz.4	+	4	1284	c.850A>C	c.(850-852)Aag>Cag	p.K284Q		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	284					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CACAGGGAAGAAGCTGATTGA	0.517												
C2orf54	79919	broad.mit.edu	37	2	241831024	241831024	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:241831024G>A	uc002wae.4	-	1	830	c.671C>T	c.(670-672)cCt>cTt	p.P224L	C2orf54_uc002wac.3_Missense_Mutation_p.P56L|C2orf54_uc002wad.3_Missense_Mutation_p.P75L	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	224										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCTGCCCTCAGGGAATCCGGG	0.647												
COL18A1	80781	broad.mit.edu	37	21	46875768	46875768	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr21:46875768C>T	uc002zhi.3	+	0	345	c.324C>T	c.(322-324)gcC>gcT	p.A108A	COL18A1_uc002zhg.3_Intron	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	108					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGAACATTGCCGGTGTCGGAG	0.642												
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308												
CX3CR1	1524	broad.mit.edu	37	3	39307958	39307958	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:39307958C>T	uc021wwc.1	-	1	179	c.139G>A	c.(139-141)Gat>Aat	p.D47N	CX3CR1_uc021wwa.1_Missense_Mutation_p.D15N|CX3CR1_uc021wwb.1_Missense_Mutation_p.D15N|CX3CR1_uc003cjl.3_Missense_Mutation_p.D15N|CX3CR1_uc021wwd.1_Missense_Mutation_p.D15N	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	15					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.D15N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCCAAATCATCGTACTCAAAG	0.448												
BAP1	8314	broad.mit.edu	37	3	52442518	52442518	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:52442518A>G	uc003ddx.3	-	3	342	c.227T>C	c.(226-228)aTt>aCt	p.I76T	PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	76					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I76fs*45(2)|p.I72fs*7(1)|p.D75G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTTATTCACAATATCATCATC	0.478			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""						
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:53220653delG	uc003dgl.3	+	13	1647	c.1294delG	c.(1294-1296)gggfs	p.G432fs	PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	432	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602												
ATXN7	6314	broad.mit.edu	37	3	63898472	63898472	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:63898472C>T	uc003dlv.3	+	2	751	c.198C>T	c.(196-198)ggC>ggT	p.G66G	ATXN7_uc003dlw.4_Silent_p.G66G|ATXN7_uc021wzy.1_Silent_p.G66G|ATXN7_uc010hnu.1_Non-coding_Transcript	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	66					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		gcgggcccggcgccgccTCCA	0.746												
U2SURP	23350	broad.mit.edu	37	3	142731118	142731118	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:142731118A>G	uc003evh.1	+	2	244	c.145A>G	c.(145-147)Agc>Ggc	p.S49G	U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.S49G|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.S49G	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	49					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ACGACCTAAGAGCCCAAGAAA	0.388												
ZBBX	79740	broad.mit.edu	37	3	167034878	167034878	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:167034878A>T	uc011bpc.2	-	13	1446	c.1109T>A	c.(1108-1110)gTa>gAa	p.V370E	ZBBX_uc003feq.3_Missense_Mutation_p.V341E|ZBBX_uc003fep.3_Missense_Mutation_p.V370E	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	370						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTGTGTTGTACTTTGGTCTC	0.328												
TMEM44	93109	broad.mit.edu	37	3	194325157	194325157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:194325157delG	uc010hzn.3	-	9	1382	c.1176delC	c.(1174-1176)accfs	p.T392fs	TMEM44_uc010hzm.3_Frame_Shift_Del_p.P76fs|TMEM44_uc021xjc.1_Frame_Shift_Del_p.T77fs|TMEM44_uc003fuc.3_Frame_Shift_Del_p.T77fs|TMEM44_uc003fuf.3_Frame_Shift_Del_p.P344fs|TMEM44_uc003fue.3_Frame_Shift_Del_p.T345fs|TMEM44_uc011bsv.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	392						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGGCAGCCTGGTGGCACTGC	0.597												
KIAA0232	9778	broad.mit.edu	37	4	6865692	6865692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:6865692C>T	uc003gjr.4	+	6	4046	c.3583C>T	c.(3583-3585)Cag>Tag	p.Q1195*	KIAA0232_uc003gjq.4_Nonsense_Mutation_p.Q1195*	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1195							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACTGGATTCCCAGGAGGAATC	0.408												
NAAA	27163	broad.mit.edu	37	4	76842123	76842123	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:76842123G>C	uc003hjb.3	-	5	884	c.820C>G	c.(820-822)Cta>Gta	p.L274V	NAAA_uc003hja.3_Missense_Mutation_p.L274V|NAAA_uc003hjc.4_Missense_Mutation_p.L274V|NAAA_uc003hjd.4_Non-coding_Transcript|NAAA_uc011cbq.2_Missense_Mutation_p.L173V	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	274					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAAGGATCTAGAGGCCAAATG	0.433												
PET112	5188	broad.mit.edu	37	4	152592379	152592379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:152592379G>A	uc003iml.3	-	12	1662	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	PET112_uc003imk.3_Non-coding_Transcript	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	541						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGATCTGCTCGGCTTTGAGTC	0.453												
ETFDH	2110	broad.mit.edu	37	4	159603468	159603468	+	Silent	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:159603468T>C	uc003iqb.3	+	2	629	c.297T>C	c.(295-297)cgT>cgC	p.R99R	ETFDH_uc011cjg.2_Silent_p.R52R|ETFDH_uc010iqr.3_Intron|ETFDH_uc011cjh.2_Silent_p.R38R|ETFDH_uc010iqs.3_Silent_p.R38R	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	99					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGGACATCCGTGTGTGTCTAG	0.502												
PCDHGC5	56104	broad.mit.edu	37	5	140729895	140729896	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr5:140729895_140729896delTC	uc003ljo.2	+	0	68_69	c.68_69delTC	c.(67-69)ttcfs	p.F23fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Frame_Shift_Del_p.F23fs	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	22					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCTTTGTTCTGCGGGGCCA	0.550											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C6orf10	10665	broad.mit.edu	37	6	32260945	32260945	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:32260945T>A	uc021yvt.1	-	22	1678	c.1505A>T	c.(1504-1506)gAa>gTa	p.E502V	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.E419V|C6orf10_uc011dpz.2_Missense_Mutation_p.E500V|C6orf10_uc021yvu.1_Missense_Mutation_p.E500V|C6orf10_uc021yvv.1_Missense_Mutation_p.E486V	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	502	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						tctctccttttctttatcatt	0.363												
HLA-DMB	3109	broad.mit.edu	37	6	32903319	32903319	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:32903319G>A	uc003ocl.2	-	3	996	c.733C>T	c.(733-735)Cac>Tac	p.H245Y	HLA-DMB_uc003ock.2_Non-coding_Transcript|HLA-DMB_uc010jud.2_Missense_Mutation_p.H114Y|HLA-DMB_uc010jue.2_Intron|HLA-DMB_uc010juf.2_Intron|HLA-DMB_uc003ocj.2_3'UTR	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	245					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCACTAGAGTGGCCAGCTCTC	0.537												
GRM4	2914	broad.mit.edu	37	6	34004117	34004117	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:34004117C>T	uc003oir.4	-	7	2133	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	GRM4_uc011dsn.2_Silent_p.L543L|GRM4_uc010jvh.3_Silent_p.L590L|GRM4_uc010jvi.3_Silent_p.L282L|GRM4_uc003oio.3_Silent_p.L282L|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.L450L|GRM4_uc003oiq.3_Silent_p.L457L|GRM4_uc011dsm.2_Silent_p.L421L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	590					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGAAGAGGGGCAGCACGGCCC	0.647												
MCM3	4172	broad.mit.edu	37	6	52149470	52149470	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:52149470C>G	uc003pan.1	-	0	113	c.3G>C	c.(1-3)atG>atC	p.M1I	MCM3_uc011dwu.1_5'UTR	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	1					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CGGTACCCGCCATGCCCGCTG	0.642												
IKZF1	10320	broad.mit.edu	37	7	50450397	50450397	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:50450397C>T	uc003tow.4	+	4	736	c.581C>T	c.(580-582)aCg>aTg	p.T194M	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.T107M|IKZF1_uc022acu.1_Missense_Mutation_p.T107M|IKZF1_uc003tox.4_Missense_Mutation_p.T194M|IKZF1_uc022acv.1_Missense_Mutation_p.T107M|IKZF1_uc022acw.1_Missense_Mutation_p.T107M|IKZF1_uc022acx.1_Missense_Mutation_p.T194M|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Missense_Mutation_p.T107M|IKZF1_uc003toy.4_Missense_Mutation_p.T194M|IKZF1_uc003toz.4_Missense_Mutation_p.T164M|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	194	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACCTGAGGACGCACTCCGGT	0.657			"""D,T"""	BCL6	"""ALL, DLBCL"""							
TAF6	6878	broad.mit.edu	37	7	99711354	99711354	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:99711354G>A	uc003uth.3	-	2	590	c.453C>T	c.(451-453)ttC>ttT	p.F151F	TAF6_uc003utg.3_Silent_p.F35F|TAF6_uc003utm.3_Silent_p.F94F|TAF6_uc003uti.3_Silent_p.F94F|TAF6_uc003utk.3_Silent_p.F94F|TAF6_uc011kji.2_Silent_p.F131F	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	94					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCGAAGCGGAAAGGAATGA	0.602												
PIK3CG	5294	broad.mit.edu	37	7	106509904	106509904	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:106509904G>A	uc003vdv.4	+	1	1983	c.1898G>A	c.(1897-1899)tGc>tAc	p.C633Y	PIK3CG_uc003vdu.3_Missense_Mutation_p.C633Y|PIK3CG_uc003vdw.3_Missense_Mutation_p.C633Y	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	633					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTCCTGGACTGCAACTTCTCA	0.448												
ADAMDEC1	27299	broad.mit.edu	37	8	24251623	24251623	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr8:24251623C>A	uc003xdz.2	+	3	546	c.326C>A	c.(325-327)cCc>cAc	p.P109H	ADAMDEC1_uc010lub.2_Missense_Mutation_p.P30H|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P30H	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	109					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTGTACTCACCCAGAGGAGAG	0.463												
SNTB1	6641	broad.mit.edu	37	8	121644863	121644863	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr8:121644863T>C	uc010mdg.3	-	2	1043	c.817A>G	c.(817-819)Aag>Gag	p.K273E	SNTB1_uc003ype.3_Missense_Mutation_p.K273E	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	273	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ACCGTGTGCTTAGCATCTGGA	0.527												
SH2D3C	10044	broad.mit.edu	37	9	130507361	130507361	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr9:130507361C>T	uc004bsc.3	-	6	1424	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	SH2D3C_uc010mxo.3_Missense_Mutation_p.A268T|SH2D3C_uc004bry.3_Missense_Mutation_p.A270T|SH2D3C_uc004brz.4_Missense_Mutation_p.A74T|SH2D3C_uc011mak.2_Missense_Mutation_p.A74T|SH2D3C_uc004bsb.3_Missense_Mutation_p.A360T|SH2D3C_uc004bsa.3_Missense_Mutation_p.A271T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	428					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTGCAGGGGCGGCATGGACA	0.627												
GFI1B	8328	broad.mit.edu	37	9	135863634	135863634	+	Missense_Mutation	SNP	G	G	A	rs145562579		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr9:135863634G>A	uc004ccg.3	+	3	644	c.289G>A	c.(289-291)Gac>Aac	p.D97N	GFI1B_uc010mzy.3_Missense_Mutation_p.D97N	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	97	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.D97Y(4)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCCACTGTCCGACTCACCCCC	0.587												
AKAP17A	8227	broad.mit.edu	37	X	1719770	1719770	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:1719770C>T	uc004cqa.3	+	4	1567	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G	AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	457					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ACGAGCTGGGCGTGGCACACG	0.701												
CITED1	4435	broad.mit.edu	37	X	71522708	71522708	+	Silent	SNP	C	C	T	rs146201846	byFrequency	TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:71522708C>T	uc011mqc.2	-	2	288	c.90G>A	c.(88-90)acG>acA	p.T30T	CITED1_uc011mqd.2_Silent_p.T4T|CITED1_uc004eas.3_Silent_p.T4T|CITED1_uc004eat.3_Silent_p.T4T	NM_001144885	NP_004134	Q99966	CITE1_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1), transcript variant 2, mRNA.	4					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					CAGGCCTCGACGTTGTTGGCA	0.512												
CHRDL1	91851	broad.mit.edu	37	X	109922648	109922648	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:109922648G>C	uc004eou.4	-	10	1511	c.1162C>G	c.(1162-1164)Ctc>Gtc	p.L388V	CHRDL1_uc004eov.3_Missense_Mutation_p.L377V|CHRDL1_uc004eow.3_Missense_Mutation_p.L386V|CHRDL1_uc010nps.3_Missense_Mutation_p.L387V|CHRDL1_uc011mss.2_Missense_Mutation_p.L308V	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	380					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAGTGCTGGAGAATGCCTAGG	0.453												
