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
TIE1	7075	broad.mit.edu	37	1	43778133	43778133	+	Silent	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:43778133C>T	uc001ciu.3	+	11	1965	c.1788C>T	c.(1786-1788)aaC>aaT	p.N596N	TIE1_uc010okd.2_Silent_p.N596N|TIE1_uc010oke.2_Silent_p.N551N|TIE1_uc009vwq.3_Silent_p.N552N|TIE1_uc010okf.1_Silent_p.N241N|TIE1_uc010okg.2_Silent_p.N241N	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	596	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGGGAGAACGTCTCATCCC	0.697												
DNAJB4	11080	broad.mit.edu	37	1	78478954	78478954	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:78478954G>C	uc001dij.3	+	1	590	c.431G>C	c.(430-432)aGa>aCa	p.R144T	DNAJB4_uc010orn.2_Missense_Mutation_p.R29T	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	144					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGATATCCAAGAGACAGGAAT	0.413												
S100A8	6279	broad.mit.edu	37	1	153362982	153362982	+	Missense_Mutation	SNP	G	G	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:153362982G>T	uc001fbs.3	-	1	200	c.30C>A	c.(28-30)aaC>aaA	p.N10K		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	10					chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGATGATAGAGTTCAAGGCTT	0.502												
SHCBP1L	81626	broad.mit.edu	37	1	182920519	182920519	+	Silent	SNP	A	A	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:182920519A>T	uc001gpu.3	-	1	774	c.489T>A	c.(487-489)acT>acA	p.T163T	SHCBP1L_uc001gpv.3_Silent_p.T44T|SHCBP1L_uc010pnz.2_Silent_p.T21T|SHCBP1L_uc001gpw.3_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	235										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CACTGGGATTAGTCTTCCAGA	0.318												
CFH	10877	broad.mit.edu	37	1	196887345	196887345	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:196887345T>C	uc001gtp.3	+	9	1683	c.1546T>C	c.(1546-1548)Tgt>Cgt	p.C516R	CFH_uc021pgt.1_Missense_Mutation_p.C139R|CFH_uc009wyy.3_Missense_Mutation_p.C515R|CFH_uc001gto.3_Missense_Mutation_p.C269R	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	868	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCAGATCCATGTATAATAAC	0.259												
CACNA1S	779	broad.mit.edu	37	1	201042718	201042718	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:201042718C>G	uc001gvv.3	-	14	2343	c.2116G>C	c.(2116-2118)Gag>Cag	p.E706Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	706					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)	GGTTTCTGCTCCAGCTTCTTG	0.542												
USH2A	7399	broad.mit.edu	37	1	216348801	216348801	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:216348801G>C	uc001hku.1	-	20	4807	c.4420C>G	c.(4420-4422)Ctg>Gtg	p.L1474V	USH2A_uc001hkv.3_Missense_Mutation_p.L1474V	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1474					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTTAACCAGAGGTGGCCTC	0.403										HNSCC(13;0.011)		
DLG5	9231	broad.mit.edu	37	10	79581222	79581222	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr10:79581222G>A	uc001jzk.3	-	14	3090	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.A611V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1007	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGAGGCCCCGCCCTCTTGGA	0.592												
CDHR1	92211	broad.mit.edu	37	10	85972090	85972090	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr10:85972090A>G	uc001kcv.3	+	14	1814	c.1709A>G	c.(1708-1710)aAt>aGt	p.N570S	CDHR1_uc001kcw.3_Missense_Mutation_p.N570S|CDHR1_uc009xst.3_Missense_Mutation_p.N274S|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	570	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGATGTCAATGACCACCCC	0.522												
TRPM5	29850	broad.mit.edu	37	11	2434731	2434731	+	Missense_Mutation	SNP	C	C	T	rs149949624	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:2434731C>T	uc010qxl.2	-	12	1987	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	TRPM5_uc001lwm.4_Missense_Mutation_p.V660I|TRPM5_uc009ydn.3_Missense_Mutation_p.V662I	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	660						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTGGTATAGACGAGGGCGGGG	0.677												
OR52B6	340980	broad.mit.edu	37	11	5602310	5602310	+	Silent	SNP	C	C	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:5602310C>A	uc010qzi.2	+	0	204	c.204C>A	c.(202-204)gtC>gtA	p.V68V	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATTTGTGTCATCCTCTCCC	0.522												
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5656037	5656037	+	Missense_Mutation	SNP	G	G	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:5656037G>T	uc001mbh.3	+	3	853	c.696G>T	c.(694-696)gaG>gaT	p.E232D	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.E586D|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.E232D|TRIM6-TRIM34_uc001mbj.3_Missense_Mutation_p.E232D	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	586						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TGGTGAGAGAGCTCATCTCAG	0.488												
MRVI1	10335	broad.mit.edu	37	11	10673684	10673684	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:10673684G>A	uc010rcc.1	-	1	499	c.113C>T	c.(112-114)gCg>gTg	p.A38V	MRVI1_uc010rcb.1_Missense_Mutation_p.A29V|MRVI1_uc001miw.2_Missense_Mutation_p.A29V|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.A38V|MRVI1_uc009ygd.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	29					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGGAACCTCCGCTGCGTCAGC	0.647												
MS4A8B	83661	broad.mit.edu	37	11	60470903	60470903	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:60470903C>T	uc001npv.3	+	2	475	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MS4A8B_uc009yne.1_Missense_Mutation_p.A91V	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	91						integral to membrane	receptor activity	p.A91A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCCATCATGGCGACGGTTCTC	0.552												
HRASLS5	117245	broad.mit.edu	37	11	63257740	63257740	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:63257740C>G	uc001nwy.2	-	1	418	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	HRASLS5_uc001nwz.2_Missense_Mutation_p.E72Q|HRASLS5_uc010rmq.1_Missense_Mutation_p.E82Q|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	82								p.L81L(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGCCCTGTTCTAATGTGCCC	0.498												
PFKM	5213	broad.mit.edu	37	12	48529142	48529142	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:48529142G>A	uc001rrb.2	+	11	1399	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	PFKM_uc001rra.2_5'UTR|PFKM_uc001rrc.3_Silent_p.T304T|PFKM_uc001rrd.3_5'UTR|PFKM_uc001rre.2_Silent_p.T304T|PFKM_uc021qxj.1_Silent_p.T304T|PFKM_uc001rrg.2_Intron	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	304					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGGTGGGACGCCATCAGCCT	0.572												
ESPL1	9700	broad.mit.edu	37	12	53663316	53663316	+	Missense_Mutation	SNP	G	G	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:53663316G>T	uc001sck.2	+	2	681	c.590G>T	c.(589-591)cGa>cTa	p.R197L	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	197					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACAGCCTGTCGAGCGGTAGCT	0.517												
SP1	6667	broad.mit.edu	37	12	53804896	53804896	+	Missense_Mutation	SNP	A	A	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:53804896A>T	uc001scw.3	+	5	2327	c.2230A>T	c.(2230-2232)Att>Ttt	p.I744F	SP1_uc021qyf.1_Missense_Mutation_p.I696F|SP1_uc010sog.2_Missense_Mutation_p.I737F	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	744	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TTCAGCCCTTATTACCACCAA	0.572												
ITGA7	3679	broad.mit.edu	37	12	56087909	56087909	+	Splice_Site	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:56087909T>C	uc001shh.3	-	19	2665	c.2445_splice	c.e19-1	p.G815_splice	ITGA7_uc001shg.3_Splice_Site_p.G811_splice|ITGA7_uc010sps.2_Splice_Site_p.G718_splice|ITGA7_uc009znw.3_Splice_Site_p.G58_splice|ITGA7_uc009znx.3_Splice_Site_p.G692_splice	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	855					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATGGCCATTCTGGCGTGGAGA	0.592												
MTERFD3	80298	broad.mit.edu	37	12	107372183	107372183	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:107372183C>T	uc001tme.1	-	1	2129	c.310G>A	c.(310-312)Gca>Aca	p.A104T	MTERFD3_uc001tmf.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmg.1_Missense_Mutation_p.A104T|MTERFD3_uc021rdh.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmh.1_Missense_Mutation_p.A104T	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CAGACAATTGCTTCCGGGCAG	0.423												
EIF2B1	1967	broad.mit.edu	37	12	124116941	124116941	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:124116941T>C	uc001ufm.3	-	1	285	c.66A>G	c.(64-66)tcA>tcG	p.S22S	GTF2H3_uc001ufo.1_5'Flank|GTF2H3_uc010tau.1_5'Flank|EIF2B1_uc010tat.2_Silent_p.S22S	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	22					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CAGCCACTGCTGAGGCCATGT	0.398												
FZD10	11211	broad.mit.edu	37	12	130648643	130648643	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:130648643G>A	uc001uii.3	+	0	1640	c.1156G>A	c.(1156-1158)Gtg>Atg	p.V386M	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	386					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGTCTGCTACGTGGGCAGCAT	0.657												
TEX26	122046	broad.mit.edu	37	13	31531137	31531137	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr13:31531137C>G	uc001uti.3	+	3	459	c.440C>G	c.(439-441)aCt>aGt	p.T147S		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	147																	ATTTCCCTTACTAAGAGAGAC	0.428												
SLC15A1	6564	broad.mit.edu	37	13	99378425	99378425	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr13:99378425G>A	uc001vno.3	-	3	274	c.197C>T	c.(196-198)aCg>aTg	p.T66M	SLC15A1_uc001vnp.1_Missense_Mutation_p.T34M	NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	66					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GAGAATTGGCGTCAGGTAGCA	0.463												
CHD8	57680	broad.mit.edu	37	14	21870120	21870120	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:21870120G>C	uc001war.2	-	18	4123	c.4058C>G	c.(4057-4059)gCt>gGt	p.A1353G	CHD8_uc001was.2_Missense_Mutation_p.A1074G|CHD8_uc001wav.1_Missense_Mutation_p.A516G	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1353					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACATGCCTTAGCAAAGGTGGA	0.428												
NYNRIN	57523	broad.mit.edu	37	14	24878580	24878580	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:24878580G>A	uc001wpf.4	+	3	1898	c.1580G>A	c.(1579-1581)gGg>gAg	p.G527E		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	527					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGGCTCAAGGGGGGCTGACA	0.567												
FRMD6	122786	broad.mit.edu	37	14	52194629	52194629	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:52194629G>A	uc001wzd.3	+	13	2036	c.1751G>A	c.(1750-1752)tGc>tAc	p.C584Y	FRMD6_uc001wzb.3_Missense_Mutation_p.C576Y|FRMD6_uc001wzc.3_Missense_Mutation_p.C576Y|FRMD6_uc001wze.3_Missense_Mutation_p.C507Y|FRMD6_uc001wzf.3_Missense_Mutation_p.C277Y|FRMD6_uc001wzg.3_Missense_Mutation_p.C226Y	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	584						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGCCTCTATTGCAACAGTTGC	0.468												
SYNE2	23224	broad.mit.edu	37	14	64540771	64540771	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:64540771T>C	uc001xgl.3	+	52	11013	c.10783T>C	c.(10783-10785)Ttg>Ctg	p.L3595L	SYNE2_uc001xgm.3_Silent_p.L3595L|SYNE2_uc021ruh.1_Silent_p.L3628L|SYNE2_uc010apy.3_5'Flank|SYNE2_uc010apw.1_Silent_p.L301L|SYNE2_uc010apx.1_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3595					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATAATTGCTTTGAAGAATTT	0.358												
TUBGCP5	114791	broad.mit.edu	37	15	22835924	22835924	+	Missense_Mutation	SNP	G	G	T	rs143778036		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr15:22835924G>T	uc001yuq.2	+	1	285	c.155G>T	c.(154-156)cGt>cTt	p.R52L	TUBGCP5_uc001yur.4_Missense_Mutation_p.R52L	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	52					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGATTTCATCGTTTCTTGGAT	0.368												
KCTD19	146212	broad.mit.edu	37	16	67331487	67331487	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr16:67331487T>C	uc002esu.2	-	6	1117	c.1066A>G	c.(1066-1068)Agg>Ggg	p.R356G	KCTD19_uc002est.2_Missense_Mutation_p.R128G|KCTD19_uc010vjj.1_Missense_Mutation_p.R99G	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	356						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGATGTCCCTTTTGTCTAGG	0.517												
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and 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; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)		
DNAH9	1770	broad.mit.edu	37	17	11696846	11696846	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:11696846T>C	uc002gne.3	+	41	8156	c.8088T>C	c.(8086-8088)tgT>tgC	p.C2696C	DNAH9_uc010coo.3_Silent_p.C1990C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2696					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTGGAATGTGTGAAATCCA	0.388												
BPTF	2186	broad.mit.edu	37	17	65862640	65862640	+	Silent	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:65862640A>G	uc002jgf.3	+	2	1558	c.1497A>G	c.(1495-1497)caA>caG	p.Q499Q	BPTF_uc002jge.3_Silent_p.Q499Q|BPTF_uc010wqm.1_Silent_p.Q499Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	499					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAAGGTCCAACTTGCAGAAT	0.343												
MIB1	57534	broad.mit.edu	37	18	19321653	19321653	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr18:19321653G>C	uc002ktq.3	+	0	109	c.109G>C	c.(109-111)Ggc>Cgc	p.G37R	MIB1_uc002ktp.3_Intron	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	37	MIB/HERC2 1.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGGCCATGTGGGCACCGTCCG	0.677												
SOCS6	9306	broad.mit.edu	37	18	67992496	67992496	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr18:67992496A>G	uc002lkr.1	+	1	908	c.592A>G	c.(592-594)Aat>Gat	p.N198D	SOCS6_uc010dqq.2_Missense_Mutation_p.N198D|SOCS6_uc021ulj.1_Missense_Mutation_p.N198D	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	198					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGCTTCTCATAATGGAGACCT	0.512												
LMNB2	84823	broad.mit.edu	37	19	2444529	2444529	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:2444529T>C	uc002lvy.3	-	1	301	c.214A>G	c.(214-216)Atc>Gtc	p.I72V		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	72	Linker 1.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCCTTGATGCCACTCACC	0.642												
PGLS	25796	broad.mit.edu	37	19	17626983	17626983	+	Missense_Mutation	SNP	C	C	T	rs143569199		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:17626983C>T	uc002ngw.3	+	2	339	c.289_splice	c.e2-1	p.T97_splice		NM_012088	NP_036220	O95336	6PGL_HUMAN	Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA.	97						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						TGGCTGCAGACGCATCTTCTC	0.537												
ZNF233	353355	broad.mit.edu	37	19	44778066	44778066	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:44778066G>A	uc021uvi.1	+	4	1359	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.R233K|ZNF233_uc002oyz.2_Missense_Mutation_p.R418K	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCCCATCAGAGAGGTCACTCT	0.418												
PEG3	5178	broad.mit.edu	37	19	57328400	57328400	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:57328400G>A	uc002qnu.2	-	6	1761	c.1410C>T	c.(1408-1410)caC>caT	p.H470H	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.H441H|PEG3_uc002qnv.2_Silent_p.H470H|PEG3_uc002qnw.2_Silent_p.H346H|PEG3_uc002qnx.2_Silent_p.H344H|PEG3_uc010etr.2_Silent_p.H470H	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	470					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCATGATCTGGTGCTCAACAA	0.458												
TTC27	55622	broad.mit.edu	37	2	33036261	33036261	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:33036261G>C	uc002rom.3	+	16	2442	c.2169G>C	c.(2167-2169)caG>caC	p.Q723H	TTC27_uc010ymx.2_Missense_Mutation_p.Q673H	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	723							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GAAATGGGCAGAGTGAAAAGC	0.428												
INO80B	83444	broad.mit.edu	37	2	74684891	74684891	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:74684891G>A	uc010yrs.2	+	3	1226	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	INO80B_uc002slg.3_Missense_Mutation_p.R324H|INO80B_uc010yrr.2_Missense_Mutation_p.R296H|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	324					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCTTGCTCCCGCACAGGCCAG	0.697												
KIF5C	3800	broad.mit.edu	37	2	149857246	149857246	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:149857246G>C	uc010zbu.2	+	20	2718	c.2323G>C	c.(2323-2325)Gat>Cat	p.D775H	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Missense_Mutation_p.D57H	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	775					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATTGCTCAACGATAAAAGGGA	0.423												
COQ10B	80219	broad.mit.edu	37	2	198318368	198318368	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:198318368G>A	uc002uuh.1	+	0	138	c.84G>A	c.(82-84)caG>caA	p.Q28Q	COQ10B_uc010fsl.1_5'Flank	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Homo sapiens coenzyme Q10 homolog B (S. cerevisiae) (COQ10B), nuclear gene encoding mitochondrial protein, mRNA.	28						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCGGGGCGCAGGCGCCCGTGC	0.627												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma							
ACOT8	10005	broad.mit.edu	37	20	44477248	44477248	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr20:44477248C>T	uc002xqa.2	-	2	423	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ACOT8_uc010zxe.2_Missense_Mutation_p.R110H|ACOT8_uc002xqc.2_Missense_Mutation_p.R57H|ACOT8_uc010zxf.2_Intron	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	110					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CTTCACAGAGCGCACCGAGAA	0.627												
SMARCC1	6599	broad.mit.edu	37	3	47755965	47755965	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:47755965G>A	uc003crq.2	-	7	850	c.732C>T	c.(730-732)gtC>gtT	p.V244V	SMARCC1_uc011bbd.1_Silent_p.V135V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	244					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.W243L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATTACTATGGACCCAAGTAT	0.274												
ITIH1	3697	broad.mit.edu	37	3	52822082	52822082	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:52822082G>A	uc003dfs.3	+	17	2035	c.2005_splice	c.e17+1	p.V669_splice	ITIH1_uc010hmn.2_Splice_Site|ITIH1_uc021wzf.1_Splice_Site_p.V527_splice|ITIH1_uc021wzg.1_Splice_Site_p.V381_splice|ITIH1_uc021wzh.1_Splice_Site_p.V381_splice|ITIH1_uc003dft.3_Splice_Site_p.V270_splice	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	669	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGTGACCGGCGGTGAGTCCTT	0.607												
DZIP1L	199221	broad.mit.edu	37	3	137799416	137799416	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:137799416T>C	uc003erq.3	-	9	1644	c.1281A>G	c.(1279-1281)ccA>ccG	p.P427P	DZIP1L_uc003err.1_Silent_p.P427P	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	427						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CACCTTCCTCTGGAGAGTCCT	0.522												
ZBTB38	253461	broad.mit.edu	37	3	141162963	141162963	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:141162963A>G	uc010hup.3	+	1	1783	c.1736A>G	c.(1735-1737)tAt>tGt	p.Y579C	ZBTB38_uc003etw.3_Missense_Mutation_p.Y578C|ZBTB38_uc010hun.3_Missense_Mutation_p.Y575C|ZBTB38_uc010huo.3_Missense_Mutation_p.Y578C|ZBTB38_uc003ety.3_Missense_Mutation_p.Y578C|ZBTB38_uc021xes.1_Missense_Mutation_p.Y578C	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	578					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAGCCCCTTATAAGAGCTAC	0.408												
TRIML1	339976	broad.mit.edu	37	4	189068016	189068016	+	Silent	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr4:189068016C>T	uc003izm.1	+	5	1012	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TRIML1_uc003izn.1_Silent_p.L23L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	299	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.L299L(4)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATGCCTATCTCGTGTTGTCGG	0.512												
CNOT8	9337	broad.mit.edu	37	5	154250226	154250226	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr5:154250226A>G	uc003lvu.3	+	4	796	c.317A>G	c.(316-318)gAc>gGc	p.D106G	CNOT8_uc011ddf.2_5'UTR|CNOT8_uc011ddg.2_5'UTR|CNOT8_uc011ddh.2_Intron|CNOT8_uc003lvv.3_Missense_Mutation_p.D106G|CNOT8_uc010jig.3_5'UTR|CNOT8_uc010jif.3_5'UTR|CNOT8_uc003lvw.3_Missense_Mutation_p.D106G|CNOT8_uc011ddi.2_5'UTR|CNOT8_uc011ddj.2_Intron	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 8 (CNOT8), mRNA.	106					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTAGAGAGGACATGTACTCC	0.393												
HIST1H1T	3010	broad.mit.edu	37	6	26107726	26107726	+	Missense_Mutation	SNP	T	T	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr6:26107726T>A	uc003ngj.3	-	0	639	c.596A>T	c.(595-597)aAt>aTt	p.N199I		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	199					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CTTTCTAACATTAACTTCATG	0.448												
NCOA7	135112	broad.mit.edu	37	6	126210501	126210501	+	Missense_Mutation	SNP	A	A	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr6:126210501A>T	uc003qai.3	+	8	1670	c.1301A>T	c.(1300-1302)gAc>gTc	p.D434V	NCOA7_uc010kes.3_Missense_Mutation_p.D434V|NCOA7_uc003qae.4_Missense_Mutation_p.D434V|NCOA7_uc010ket.3_Missense_Mutation_p.D319V|NCOA7_uc003qah.3_Missense_Mutation_p.D423V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	434					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			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)		CACAAAAAAGACACCTTGAAG	0.423												
TNRC18	84629	broad.mit.edu	37	7	5354614	5354614	+	Splice_Site	SNP	C	C	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr7:5354614C>A	uc003soi.4	-	26	7376	c.7027_splice	c.e26+1	p.D2343_splice		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2343							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCCAACCTACCACCCTTGGC	0.672												
OGDH	4967	broad.mit.edu	37	7	44747273	44747273	+	Silent	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr7:44747273A>G	uc003tln.3	+	21	3048	c.2889A>G	c.(2887-2889)caA>caG	p.Q963Q	OGDH_uc011kbx.2_Silent_p.Q959Q|OGDH_uc011kby.2_Silent_p.Q813Q|OGDH_uc003tlp.3_Silent_p.Q974Q|OGDH_uc011kbz.2_Silent_p.Q758Q	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	963					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACAAGAACCAAGGCTACTATG	0.592												
ERLIN2	11160	broad.mit.edu	37	8	37611537	37611537	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr8:37611537T>C	uc003xke.4	+	11	1039	c.924T>C	c.(922-924)tcT>tcC	p.S308S		NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	308	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCATGGACTCTGCGGGCAGTG	0.463												
LAPTM4B	55353	broad.mit.edu	37	8	98863639	98863639	+	Silent	SNP	G	G	A	rs147233429		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr8:98863639G>A	uc003yia.3	+	6	1047	c.891G>A	c.(889-891)ccG>ccA	p.P297P	LAPTM4B_uc010mbg.3_Silent_p.P129P	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.	350					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			TGCTACCCCCGTATGATGATG	0.527												
FAM75E1	286234	broad.mit.edu	37	9	90499950	90499950	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr9:90499950A>G	uc004app.4	+	3	583	c.548A>G	c.(547-549)gAt>gGt	p.D183G	FAM75E1_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	183	Pro-rich.					integral to membrane		p.D183V(1)									TGCATGCAAGATCCGTCTCCT	0.627												
AK1	203	broad.mit.edu	37	9	130630690	130630691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr9:130630690_130630691insT	uc004bsm.4	-	5	578_579	c.425_426insA	c.(424-426)aatfs	p.N142fs		NM_000476	NP_000467	P00568	KAD1_HUMAN	Homo sapiens adenylate kinase 1 (AK1), mRNA.	142					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding			endometrium(1)|prostate(1)	2						TGGTCTCCTCATTGTCGTCCAC	0.574												
KDM5C	8242	broad.mit.edu	37	X	53223866	53223866	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chrX:53223866G>A	uc004drz.3	-	22	4026	c.3493C>T	c.(3493-3495)Cgt>Tgt	p.R1165C	KDM5C_uc022bxe.1_Missense_Mutation_p.R1098C|KDM5C_uc004dsa.3_Missense_Mutation_p.R1164C|AY927613_uc004dsb.1_Non-coding_Transcript	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1165					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTGGTGCGACGCAGCTGCAGG	0.612			"""N, F, S"""		clear cell renal carcinoma