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
COL16A1	1307	broad.mit.edu	37	1	32163660	32163660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:32163660C>T	uc001btk.1	-	5	869	c.504G>A	c.(502-504)tgG>tgA	p.W168*	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Nonsense_Mutation_p.W168*	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	168	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.R167S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCAGCTTGTGCCAACGCAAGT	0.642												
FGGY	55277	broad.mit.edu	37	1	59805657	59805657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:59805657C>T	uc009wac.3	+	2	441	c.229C>T	c.(229-231)Caa>Taa	p.Q77*	FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Nonsense_Mutation_p.Q77*|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	77					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TGATTTAAACCAAATTCGAGG	0.363												
MSH4	4438	broad.mit.edu	37	1	76349367	76349367	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:76349367A>T	uc001dhd.2	+	14	2083	c.1968A>T	c.(1966-1968)aaA>aaT	p.K656N		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	656					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCTTGAAAAAATATCTGCGG	0.313								Mismatch excision repair (MMR)				
SYCP1	6847	broad.mit.edu	37	1	115487554	115487554	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:115487554G>A	uc001efr.3	+	24	2314	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R702Q|SYCP1_uc009wgw.3_Missense_Mutation_p.R702Q	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	702					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.R702*(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGATAAGCGATGTCAACAT	0.254												
PTGFRN	5738	broad.mit.edu	37	1	117484643	117484643	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:117484643G>T	uc001egv.1	+	1	493	c.356G>T	c.(355-357)tGt>tTt	p.C119F		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	119	Ig-like C2-type 1.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CACTACAAATGTTCAACCCCC	0.562												
PRG4	10216	broad.mit.edu	37	1	186276526	186276526	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:186276526G>A	uc001gru.4	+	6	1726	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.E518K|PRG4_uc009wyl.3_Missense_Mutation_p.E466K|PRG4_uc009wym.3_Missense_Mutation_p.E425K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	559	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACCAAGGAGCCTGCACC	0.637												
CR2	1380	broad.mit.edu	37	1	207649599	207649599	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:207649599C>T	uc001hfw.3	+	13	2679	c.2560C>T	c.(2560-2562)Ccg>Tcg	p.P854S	CR2_uc001hfv.3_Missense_Mutation_p.P913S|CR2_uc009xch.3_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	854	Sushi 14.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTGTCCACCTCCGCCTAAGAC	0.493												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
ANK3	288	broad.mit.edu	37	10	61836046	61836046	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:61836046C>T	uc001jky.3	-	36	4931	c.4593G>A	c.(4591-4593)acG>acA	p.T1531T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1531	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGCTGATGGCGTATTAGAGG	0.443												
TLL2	7093	broad.mit.edu	37	10	98157009	98157009	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:98157009G>A	uc001kml.2	-	10	1559	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	TLL2_uc009xvf.2_Missense_Mutation_p.R418W	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	440	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R440R(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACCCAGAGCCGGCTGTCCGTG	0.587												
DUX4L3	653544	broad.mit.edu	37	10	135491123	135491123	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:135491123G>A	uc021qbj.1	+						DUX4L3_uc010qvh.1_Missense_Mutation_p.G245D|DUX4L3_uc021qbi.1_5'UTR	NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN	Homo sapiens double homeobox 2 (DUX2), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GCCCACACCGGCGCGTGGGGA	0.786												
RAG1	5896	broad.mit.edu	37	11	36596877	36596877	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr11:36596877C>T	uc021qgb.1	+	0	2023	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.L675L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	675					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GACTGCCATCCTGAGTCCTCT	0.498									Familial Hemophagocytic Lymphohistiocytosis			
FOLH1	2346	broad.mit.edu	37	11	49186293	49186293	+	Silent	SNP	C	C	T	rs141224157	by1000genomes	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr11:49186293C>T	uc001ngy.3	-	12	1665	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_uc009yly.3_Silent_p.P453P|FOLH1_uc009ylz.3_Silent_p.P453P|FOLH1_uc001ngz.3_Silent_p.P468P|FOLH1_uc009yma.3_Silent_p.P160P	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	468	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGTACATCAGCGGTGTACAAT	0.284												
VWF	7450	broad.mit.edu	37	12	6127888	6127888	+	Nonsense_Mutation	SNP	G	G	A	rs61750112		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:6127888G>A	uc001qnn.1	-	27	4946	c.4696C>T	c.(4696-4698)Cga>Tga	p.R1566*	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1566	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGGATCTCTCGCACCCGCTGC	0.622												
CD163L1	283316	broad.mit.edu	37	12	7528295	7528295	+	Splice_Site	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:7528295C>T	uc010sge.2	-	10	2742	c.2716_splice	c.e10+1	p.R906_splice	CD163L1_uc001qsy.3_Splice_Site_p.R896_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	896	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.?(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAAATCTCACGGGAACAGAC	0.468												
KRT8	3856	broad.mit.edu	37	12	53294405	53294405	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:53294405G>A	uc009zmk.1	-	4	761	c.741C>T	c.(739-741)gaC>gaT	p.D247D	KRT8_uc001sbd.2_Silent_p.D219D|KRT8_uc009zml.1_Silent_p.D219D|KRT8_uc009zmm.1_Silent_p.D219D	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	219	Linker 12.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTTGATCTCGTCGGTCAGCC	0.572												
IRAK3	11213	broad.mit.edu	37	12	66597512	66597512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:66597512G>A	uc001sth.3	+	1	257	c.155G>A	c.(154-156)tGg>tAg	p.W52*	IRAK3_uc010ssy.2_Intron	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	52	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCAAGCAGCTGGCTGGATGTT	0.363												
SBNO1	55206	broad.mit.edu	37	12	123794321	123794321	+	Silent	SNP	C	C	T	rs145298684	by1000genomes	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:123794321C>T	uc010tap.2	-	24	3378	c.3378G>A	c.(3376-3378)gcG>gcA	p.A1126A	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.A1125A|SBNO1_uc010taq.2_Silent_p.A77A|SBNO1_uc001ues.1_Silent_p.A77A	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1126							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAAGTGTGTCCGCAAAATACT	0.358												
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652												
CLCN7	1186	broad.mit.edu	37	16	1498997	1498997	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:1498997G>A	uc002clv.2	-	18	1877	c.1767C>T	c.(1765-1767)acC>acT	p.T589T	CLCN7_uc002clu.2_Silent_p.T37T|CLCN7_uc002clw.2_Silent_p.T565T	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	589						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGATCTTGGCGGTCATGAGCA	0.632												
CLCN7	1186	broad.mit.edu	37	16	1510943	1510943	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:1510943G>A	uc002clv.2	-	4	468	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CLCN7_uc002clw.2_Missense_Mutation_p.R96W	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	120						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCCACCGTCCGGAAGGCCTGC	0.682												
ZNF19	7567	broad.mit.edu	37	16	71509676	71509676	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:71509676G>A	uc010cgc.1	-	5	1280	c.774C>T	c.(772-774)tcC>tcT	p.S258S	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Silent_p.S246S|ZNF19_uc002fal.1_Silent_p.S246S|ZNF19_uc002fam.1_Silent_p.S258S	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TAACAAACTCGGAACTACTCG	0.438												
CHST6	4166	broad.mit.edu	37	16	75513068	75513068	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:75513068C>T	uc021tlj.1	-	0	659	c.659G>A	c.(658-660)cGt>cAt	p.R220H	CHST6_uc002fef.3_Missense_Mutation_p.R220H|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.R220H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	220					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCGTTGTCACGCGCCAGAGC	0.721												
SLC38A8	146167	broad.mit.edu	37	16	84066963	84066963	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:84066963G>A	uc002fhg.1	-	2	500	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	167					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GATCTCCCGCGGGGCAGACAG	0.652												
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)		
MSL1	339287	broad.mit.edu	37	17	38285515	38285515	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:38285515G>A	uc002hub.3	+	2	426	c.407G>A	c.(406-408)aGt>aAt	p.S136N	MSL1_uc002hua.4_Missense_Mutation_p.S74N|MSL1_uc002huc.2_Missense_Mutation_p.S74N|MSL1_uc021txa.1_Non-coding_Transcript|MSL1_uc002hud.3_5'Flank	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	Homo sapiens male-specific lethal 1 homolog (Drosophila) (MSL1), mRNA.	337	Pro-rich.				histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CCATTTGGAAGTACAGAAAGA	0.333												
IFI35	3430	broad.mit.edu	37	17	41166266	41166266	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:41166266G>A	uc021txx.1	+	6	1040	c.817G>A	c.(817-819)Gta>Ata	p.V273I		NM_005533	NP_005524	P80217	IN35_HUMAN	Homo sapiens interferon-induced protein 35 (IFI35), mRNA.	271				EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry).	response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CCTGACAGTCGTACCCCAAGG	0.632												
ACE	1636	broad.mit.edu	37	17	61566027	61566027	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:61566027C>T	uc002jau.2	+	15	2358	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	ACE_uc010wpj.2_Missense_Mutation_p.A201V|ACE_uc010ddv.2_Missense_Mutation_p.A2V|ACE_uc002jav.2_Missense_Mutation_p.A201V|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.A85V	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	775	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AATGTGATGGCCACGTCCCGG	0.542												
DSG3	1830	broad.mit.edu	37	18	29054117	29054117	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr18:29054117C>T	uc002kws.3	+	14	2244	c.2135C>T	c.(2134-2136)gCg>gTg	p.A712V	DSG3_uc002kwt.3_5'UTR	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	712					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGAGGCACAGCGGTGGAAGGC	0.443												
ATP5A1	498	broad.mit.edu	37	18	43667414	43667414	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr18:43667414C>A	uc002lbr.1	-	6	934	c.844G>T	c.(844-846)Gct>Tct	p.A282S	ATP5A1_uc010dnl.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbs.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbt.1_Missense_Mutation_p.A282S	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	282					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGTGGGGCAGCATCCGAGGCC	0.423												
MUC16	94025	broad.mit.edu	37	19	9054252	9054252	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:9054252G>A	uc002mkp.3	-	3	31574	c.31370C>T	c.(31369-31371)tCg>tTg	p.S10457L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10459	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGCAGGCGAAGTGGATGT	0.448												
KXD1	79036	broad.mit.edu	37	19	18675766	18675766	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:18675766C>T	uc021uqq.1	+	3	494	c.189C>T	c.(187-189)ttC>ttT	p.F63F	KXD1_uc021uqr.1_Silent_p.F63F|KXD1_uc002njo.3_Silent_p.F63F|KXD1_uc002njq.3_Silent_p.F63F	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN	Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.	63							protein binding										GCGAACGCTTCCTGCACCACA	0.582												
ZNF429	353088	broad.mit.edu	37	19	21712573	21712573	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:21712573C>A	uc002nqd.1	+	1	254	c.117C>A	c.(115-117)aaC>aaA	p.N39K	ZNF429_uc010ecu.2_Missense_Mutation_p.N39K	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTACAGAAACTTGGTCTTCC	0.378												
IGFLR1	79713	broad.mit.edu	37	19	36230669	36230669	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:36230669G>A	uc002obd.4	-	3	930	c.663C>T	c.(661-663)ggC>ggT	p.G221G	IGFLR1_uc002obb.3_Intron|IGFLR1_uc002obc.3_Silent_p.G221G|IGFLR1_uc010xsy.2_Non-coding_Transcript|IGFLR1_uc010eej.3_Silent_p.G301G	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	Homo sapiens IGF-like family receptor 1 (IGFLR1), mRNA.	221						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TCTCCAGGGCGCCTGGGGAGG	0.642												
CPT1C	126129	broad.mit.edu	37	19	50208532	50208532	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:50208532C>T	uc010eng.3	+	9	1257	c.941C>T	c.(940-942)aCg>aTg	p.T314M	CPT1C_uc002ppl.4_Missense_Mutation_p.T280M|CPT1C_uc002ppi.3_Missense_Mutation_p.T231M|CPT1C_uc002ppk.3_Missense_Mutation_p.T303M|CPT1C_uc010enh.3_Missense_Mutation_p.T314M|CPT1C_uc002ppj.3_Missense_Mutation_p.T314M|CPT1C_uc010ybc.1_Missense_Mutation_p.T185M|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	314					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.T314K(2)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCAACACCACGCGGATTCCA	0.552												
SOS1	6654	broad.mit.edu	37	2	39262448	39262448	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:39262448T>C	uc002rrk.4	-	7	1020	c.979A>G	c.(979-981)Ata>Gta	p.I327V	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_5'UTR|SOS1_uc002rrl.3_Missense_Mutation_p.I59V	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	327	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCTTCGCCTATTGACTGGAAA	0.338									Noonan syndrome			
SLC4A5	57835	broad.mit.edu	37	2	74462257	74462257	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:74462257G>C	uc002sko.1	-	16	2406	c.2404C>G	c.(2404-2406)Ccc>Gcc	p.P802A	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.P802A|SLC4A5_uc010ffc.1_Missense_Mutation_p.P802A|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	802						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGCAGCTTGGGAGTTTCTAGG	0.547												
LRP2	4036	broad.mit.edu	37	2	170092415	170092415	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:170092415G>A	uc002ues.3	-	28	5068	c.4855C>T	c.(4855-4857)Ctt>Ttt	p.L1619F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1619					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGTAATCAAGATAGGAGTCC	0.453												
TTN	7273	broad.mit.edu	37	2	179410964	179410964	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:179410964G>A	uc021vsy.1	-	290	87615	c.87390C>T	c.(87388-87390)gcC>gcT	p.A29130A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.A22825A|TTN_uc021vta.1_Silent_p.A22758A|TTN_uc021vtb.1_Silent_p.A22633A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30057	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAGACACGGCCTTGGTCC	0.428												
TTN	7273	broad.mit.edu	37	2	179462736	179462736	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:179462736T>A	uc021vsy.1	-	241	49682	c.49457A>T	c.(49456-49458)aAg>aTg	p.K16486M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K10181M|TTN_uc021vta.1_Missense_Mutation_p.K10114M|TTN_uc021vtb.1_Missense_Mutation_p.K9989M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17413	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCCTTCCTTTAATCCTGT	0.383												
MAP2	4133	broad.mit.edu	37	2	210518141	210518141	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:210518141G>C	uc002vde.1	+	3	495	c.247G>C	c.(247-249)Gac>Cac	p.D83H	MAP2_uc002vdc.1_Missense_Mutation_p.D83H|MAP2_uc002vdd.1_Missense_Mutation_p.D83H|MAP2_uc002vdf.1_Missense_Mutation_p.D83H|MAP2_uc002vdg.1_Missense_Mutation_p.D83H|MAP2_uc002vdh.1_Missense_Mutation_p.D83H|MAP2_uc002vdi.1_Missense_Mutation_p.D83H	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	83					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GACCTCAGCTGACAGAGAAAC	0.463												
XKR7	343702	broad.mit.edu	37	20	30584473	30584473	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr20:30584473C>T	uc002wxe.3	+	2	1127	c.953C>T	c.(952-954)gCg>gTg	p.A318V		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	318						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCCTTCGCGCTCTTCGCC	0.637												
JPH2	57158	broad.mit.edu	37	20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr20:42788430C>T	uc002xli.1	-	1	1870	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	333					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662												
PCBP3	54039	broad.mit.edu	37	21	47349908	47349908	+	Silent	SNP	C	C	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr21:47349908C>A	uc010gqb.3	+	12	1059	c.796_splice	c.e12+1	p.G266_splice	PCBP3_uc002zhp.2_Splice_Site_p.G266_splice|PCBP3_uc002zhq.2_Splice_Site_p.G266_splice|PCBP3_uc002zhs.2_Splice_Site_p.G240_splice|PCBP3_uc002zht.2_Splice_Site_p.G256_splice	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	266					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCTTTCCCCGGTACGTACC	0.567												
ST3GAL6	10402	broad.mit.edu	37	3	98506930	98506930	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr3:98506930C>T	uc003dtc.3	+	7	949	c.482C>T	c.(481-483)aCa>aTa	p.T161I	ST3GAL6_uc003dsy.3_Missense_Mutation_p.T75I|ST3GAL6_uc003dsz.3_Missense_Mutation_p.T161I|ST3GAL6_uc003dta.3_Missense_Mutation_p.T43I|ST3GAL6_uc010hpd.3_Missense_Mutation_p.T214I	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.	161					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GGGAGAAGGACAACCTTCCGA	0.378												
MYLK	4638	broad.mit.edu	37	3	123457797	123457797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr3:123457797G>A	uc003ego.3	-	6	817	c.535C>T	c.(535-537)Cga>Tga	p.R179*	MYLK_uc011bjw.2_Nonsense_Mutation_p.R179*|MYLK_uc003egp.3_Nonsense_Mutation_p.R179*|MYLK_uc003egq.3_Nonsense_Mutation_p.R179*|MYLK_uc003egr.3_Nonsense_Mutation_p.R179*|MYLK_uc003egs.3_Nonsense_Mutation_p.R3*|MYLK_uc010hrs.1_Nonsense_Mutation_p.R179*	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	179	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGAGAATCGTCCCATCTGT	0.582												
DCUN1D4	23142	broad.mit.edu	37	4	52765498	52765498	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:52765498C>G	uc011bzo.2	+	7	708	c.701C>G	c.(700-702)tCt>tGt	p.S234C	DCUN1D4_uc003gze.3_Missense_Mutation_p.S190C|DCUN1D4_uc003gzf.3_Missense_Mutation_p.S190C|DCUN1D4_uc011bzn.2_Missense_Mutation_p.S130C|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	190	DCUN1.							p.P233S(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TTAAATGATTCTACAAACTTT	0.348												
EPHA5	2044	broad.mit.edu	37	4	66233108	66233108	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:66233108C>T	uc003hcy.3	-	9	2084	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	EPHA5_uc003hcx.3_Missense_Mutation_p.E563K|EPHA5_uc003hcz.3_Missense_Mutation_p.E609K|EPHA5_uc011cah.2_Missense_Mutation_p.E632K|EPHA5_uc011cai.2_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	631					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTTCCTCTTCTGGATCTTGT	0.358										TSP Lung(17;0.13)		
SULT1B1	27284	broad.mit.edu	37	4	70596362	70596362	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:70596362A>G	uc003hen.3	-	6	933	c.635T>C	c.(634-636)cTa>cCa	p.L212P		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	212					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTCTCTAGAAATCTAAT	0.338												
SULT1B1	27284	broad.mit.edu	37	4	70596383	70596383	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:70596383A>C	uc003hen.3	-	6	912	c.614T>G	c.(613-615)aTc>aGc	p.I205S		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	205					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATCTTCTTGATTTCCTCCTT	0.328												
CABS1	85438	broad.mit.edu	37	4	71201006	71201006	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:71201006G>A	uc003hff.3	+	0	336	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CABS1_uc021xoz.1_Missense_Mutation_p.D84N	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	84						flagellum	calcium ion binding	p.D84N(2)|p.T83T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TATGGGGACCGACTTTATTAA	0.363												
TACR3	6870	broad.mit.edu	37	4	104510963	104510963	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:104510963C>T	uc003hxe.1	-	4	1415	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	425						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCTTTTCTTCCGACTGGACCT	0.502												
NDST3	9348	broad.mit.edu	37	4	119064755	119064755	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:119064755C>T	uc003ibx.3	+	5	1858	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	NDST3_uc011cgf.1_Silent_p.F404F	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	485	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACACCATTTTCTACAAAGAAT	0.383												
DNAH5	1767	broad.mit.edu	37	5	13841162	13841162	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:13841162T>A	uc003jfd.2	-	33	5604	c.5562A>T	c.(5560-5562)aaA>aaT	p.K1854N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1854	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1853N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGCATGATTTTTTTATCAA	0.398									Kartagener syndrome			
MCCC2	64087	broad.mit.edu	37	5	70945048	70945048	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:70945048C>T	uc003kbs.4	+	13	1479	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	447	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CCTATGGAGCCGGAAACTATG	0.463												
SLC22A5	6584	broad.mit.edu	37	5	131729366	131729366	+	Splice_Site	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:131729366A>G	uc003kwx.4	+	10	1787	c.1523_splice	c.e10-2	p.G508_splice	SLC22A5_uc003kww.4_Splice_Site_p.G484_splice|SLC22A5_uc010jdr.1_Splice_Site_p.G104_splice	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	484			F -> L.		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCTTTGCCATAGGTGCCTACG	0.562												
MAT2B	27430	broad.mit.edu	37	5	162945327	162945327	+	Silent	SNP	T	T	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:162945327T>G	uc003lzk.3	+	6	1071	c.963T>G	c.(961-963)ccT>ccG	p.P321P	MAT2B_uc003lzj.3_Silent_p.P310P|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.3_Silent_p.P61P	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	321					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	p.T320M(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CACTTTGGCCTTTCCTCATTG	0.388												
PKHD1	5314	broad.mit.edu	37	6	51941121	51941121	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:51941121G>A	uc003pah.1	-	5	677	c.401C>T	c.(400-402)gCg>gTg	p.A134V	PKHD1_uc003pai.3_Missense_Mutation_p.A134V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	134					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.A134V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTGTCTGCGCCTTGGAAAA	0.393												
IBTK	25998	broad.mit.edu	37	6	82924066	82924066	+	Silent	SNP	A	A	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:82924066A>C	uc003pjl.1	-	11	2609	c.2082T>G	c.(2080-2082)gtT>gtG	p.V694V	IBTK_uc011dyv.1_Silent_p.V694V|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.V388V|IBTK_uc003pjm.2_Silent_p.V694V	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	694					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCCTCTCACTAACTGTTTGAG	0.338												
SESN1	27244	broad.mit.edu	37	6	109319765	109319765	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:109319765C>T	uc003psu.3	-	4	1355	c.923G>A	c.(922-924)gGc>gAc	p.G308D	SESN1_uc021zdp.1_Missense_Mutation_p.G183D|SESN1_uc003pst.4_Missense_Mutation_p.G249D	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	249					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ACTGTGATTGCCATTTGTAAT	0.398												
ZNF804B	219578	broad.mit.edu	37	7	88966247	88966247	+	Silent	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:88966247A>G	uc011khi.2	+	3	4489	c.3951A>G	c.(3949-3951)gtA>gtG	p.V1317V		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1317						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCAACCAGTATTCCAAGGTC	0.413										HNSCC(36;0.09)		
PPP1R3A	5506	broad.mit.edu	37	7	113518248	113518248	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:113518248G>T	uc010ljy.1	-	3	2930	c.2899C>A	c.(2899-2901)Cct>Act	p.P967T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	967					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGGATAAGGGTGCTTCTCA	0.383												
PLXNA4	91584	broad.mit.edu	37	7	131866156	131866156	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:131866156G>A	uc003vra.4	-	17	3705	c.3476C>T	c.(3475-3477)aCg>aTg	p.T1159M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1159	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane		p.T1159M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GATGATGGGCGTGCCAGGCTT	0.582												
TRBV2	28620	broad.mit.edu	37	7	142000857	142000857	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:142000857C>A	uc011kro.1	+	0	82	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	TRBV2_uc022amx.1_5'Flank|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AATTTTTAGTCTCTTGAAAGC	0.443												
GIMAP8	155038	broad.mit.edu	37	7	150171329	150171329	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:150171329G>A	uc003whj.3	+	3	1242	c.912G>A	c.(910-912)ccG>ccA	p.P304P		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	304						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTGATGCTCCGGACATCTCAT	0.458												
TEX15	56154	broad.mit.edu	37	8	30702861	30702861	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr8:30702861C>T	uc003xil.3	-	0	3673	c.3673G>A	c.(3673-3675)Gct>Act	p.A1225T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1225										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTTCATTAGCGTCACAACTG	0.299												
FAM135B	51059	broad.mit.edu	37	8	139209806	139209806	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr8:139209806A>G	uc003yuy.3	-	7	947	c.776T>C	c.(775-777)tTc>tCc	p.F259S	FAM135B_uc003yux.3_Missense_Mutation_p.F160S|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	259										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCACCAGGAAGTGGAGACG	0.612										HNSCC(54;0.14)		
ZNF79	7633	broad.mit.edu	37	9	130206381	130206381	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr9:130206381G>C	uc004bqw.4	+	4	816	c.402G>C	c.(400-402)gaG>gaC	p.E134D	ZNF79_uc011maf.2_Missense_Mutation_p.E110D|ZNF79_uc011mag.2_Missense_Mutation_p.E110D	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CATGTGTAGAGATGCCCCCTG	0.502												
ZCCHC5	203430	broad.mit.edu	37	X	77913028	77913028	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chrX:77913028A>G	uc022bzi.1	-	0	890	c.890T>C	c.(889-891)aTc>aCc	p.I297T	ZCCHC5_uc004edc.1_Missense_Mutation_p.I297T	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	297							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGGGCTTTGGATATCCAGTAA	0.483