Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
WBSCR22	114049	broad.mit.edu	37	7	73112192	73112192	+	Silent	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:73112192C>G	uc003tyu.3	+	12	931	c.873C>G	c.(871-873)ggC>ggG	p.G291G	WBSCR22_uc003tyv.3_Silent_p.G236G|WBSCR22_uc003tyt.3_Silent_p.G274G|WBSCR22_uc022afv.1_Non-coding_Transcript|WBSCR22_uc003tyw.1_Intron	NM_001202560	NP_001189489	O43709	WBS22_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 22 (WBSCR22), transcript variant 1, mRNA.	274						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGTACACCGGCCGCAAGCGCA	0.478000													10	53					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37427659	37427659	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr13:37427659T>C	uc001uvw.3	-	5	1500	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	SMAD9_uc001uvx.3_Missense_Mutation_p.N349S|SMAD9_uc010tep.2_Missense_Mutation_p.N179S	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	386	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCTGGTTGTTGAAGACCTT	0.532000													7	44					0	0	1	0	0
ARID3A	1820	broad.mit.edu	37	19	964321	964321	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:964321G>A	uc002lql.3	+	4	1130	c.840G>A	c.(838-840)acG>acA	p.T280T		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	280	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TGCTGGTGACGGAGAAGGGCG	0.607000													3	73					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3299469	3299469	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr16:3299469G>A	uc002cun.1	-	2	1262	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	MEFV_uc021tbw.1_Missense_Mutation_p.R197W|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	408			R -> Q (in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism; dbSNP:rs11466024).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGGCGCACCCGGTGGCCTTGG	0.602000													30	59					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52412685	52412685	+	Silent	SNP	C	C	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr3:52412685C>A	uc011bef.2	+	46	7527	c.7266C>A	c.(7264-7266)acC>acA	p.T2422T		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2422	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTATGCAACCATCACCTCCC	0.602000													74	194					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4792557	4792557	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:4792557G>A	uc002mbf.3	+	0	830	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	231					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACCAACATCGTGGAGTACCT	0.687000													3	88					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903029	129903029	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr10:129903029G>A	uc001lke.3	-	12	7270	c.7075C>T	c.(7075-7077)Cgg>Tgg	p.R2359W	MKI67_uc001lkf.3_Missense_Mutation_p.R1999W|MKI67_uc009yav.1_Missense_Mutation_p.R1934W|MKI67_uc009yaw.1_Missense_Mutation_p.R1509W	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2359	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTGGGCCGTTGCTTTGTG	0.502000													4	228					0	0	1	0	0
WASH7P	653635	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:14976G>A	uc009vis.3	-	2		c.369C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		CTACCCTTGCGCCTCATGACC	0.582000													4	7					0	0	1	0	0
NUP37	79023	broad.mit.edu	37	12	102470594	102470594	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:102470594C>G	uc001tjc.3	-	6	819	c.754G>C	c.(754-756)Gat>Cat	p.D252H		NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	Homo sapiens nucleoporin 37kDa (NUP37), mRNA.	252					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CAGGCTCGATCCATGTGAACA	0.363000													6	27					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25639358	25639358	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:25639358C>T	uc002gzd.1	+	8	1545	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	WSB1_uc002gze.1_Missense_Mutation_p.P264L|WSB1_uc002gzf.1_Non-coding_Transcript	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	Homo sapiens WD repeat and SOCS box containing 1 (WSB1), transcript variant 1, mRNA.	410	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTGCCGATTCCTTCCAAGCTT	0.473000													5	271					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13940850	13940850	+	Silent	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:13940850C>T	uc001avd.3	+	4	703	c.654C>T	c.(652-654)atC>atT	p.I218I	PDPN_uc001avc.3_Silent_p.I218I|PDPN_uc009vob.3_Silent_p.I100I|PDPN_uc009voc.3_Silent_p.I100I|PDPN_uc001ave.3_Silent_p.I100I|PDPN_uc001avf.3_Silent_p.I100I	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	142					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TACTAGCCATCGGCTTCATTG	0.433000													34	68					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8824763	8824763	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:8824763G>A	uc002knr.2	+	14	3397	c.3255G>A	c.(3253-3255)gaG>gaA	p.E1085E	SOGA2_uc002knq.2_Silent_p.E1044E|SOGA2_uc002kns.2_Silent_p.E425E	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1395																	TCCTGCCTGAGAAGGGCCTGC	0.572000													23	57					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228159772	228159772	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr2:228159772G>A	uc002vom.2	+	39	3673	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1171	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGAAAAGGGAGAAACGGGTAC	0.418000													3	64					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947501	150947501	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:150947501A>C	uc003lue.4	-	0	1005	c.992T>G	c.(991-993)cTc>cGc	p.L331R	FAT2_uc010jhx.1_Missense_Mutation_p.L331R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	331					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGGCTGAGGTTGAACCC	0.493000													5	230					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880057	37880057	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:37880057G>A	uc010efk.1	+	4	1217	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	ZNF527_uc002ogf.3_Missense_Mutation_p.R337H|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTTTAGCCGTTATGCCTTC	0.433000													10	30					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76128481	76128481	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:76128481C>G	uc002jup.2	+	3	722	c.340C>G	c.(340-342)Cgc>Ggc	p.R114G	TMC6_uc002jul.1_5'UTR|TMC8_uc010dhh.1_Missense_Mutation_p.P175R|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	114						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CACCTTCCTCCGCTTCCTGCT	0.687000													11	32					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42874546	42874546	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr13:42874546C>T	uc001uys.2	+	7	1839	c.1664C>T	c.(1663-1665)gCa>gTa	p.A555V		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	555					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.A554S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAATTTGCAGCAGATCTTGTG	0.303000													9	32					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58050081	58050081	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:58050081C>T	uc002qpb.2	+	3	1958	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	ZNF549_uc002qpa.2_Missense_Mutation_p.T557I	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACACCGCACCAGCCTCATT	0.453000													8	43					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210601	100210601	+	Missense_Mutation	SNP	A	A	T	rs143182268		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:100210601A>T	uc003uvq.3	+	1	389	c.187A>T	c.(187-189)Act>Tct	p.T63S	MOSPD3_uc003uvr.3_Missense_Mutation_p.T63S|MOSPD3_uc003uvs.3_Missense_Mutation_p.T63S|MOSPD3_uc003uvt.3_Missense_Mutation_p.T63S	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	63	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCACAGGAACTGCGCTTCG	0.637000													43	130					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027942	87027942	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr3:87027942G>A	uc003dqn.3	-	1	501	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGAATACCGCTAACTTCTT	0.428000													3	76					0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089391	137089391	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:137089391C>A	uc003lbt.3	-	0	649	c.365G>T	c.(364-366)gGc>gTc	p.G122V	MYOT_uc011cye.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA.	122	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCACGGTGCCAAACTGCGA	0.587000													3	82					0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000													5	21					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176720972	176720972	+	Silent	SNP	T	T	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:176720972T>A	uc003mfr.4	+	22	6741	c.6603T>A	c.(6601-6603)tcT>tcA	p.S2201S	NSD1_uc003mft.4_Silent_p.S1932S|NSD1_uc011dfx.2_Silent_p.S1849S|NSD1_uc021yip.1_Silent_p.S25S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2201					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCGTCTGTCTTGTACTGAGC	0.567000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			35	51					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	367205	367205	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:367205G>T	uc002lol.3	-	6	816	c.773C>A	c.(772-774)gCa>gAa	p.A258E	THEG_uc002lom.3_Missense_Mutation_p.A234E	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	258					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CATTTGGGCTGCCCTGGATAC	0.592000													6	34					0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40986805	40986805	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:40986805T>G	uc002ibq.3	+	3	381	c.155T>G	c.(154-156)aTc>aGc	p.I52S	PSME3_uc002ibp.3_5'UTR|PSME3_uc002ibr.3_Missense_Mutation_p.I52S|PSME3_uc002ibs.3_Missense_Mutation_p.I63S|PSME3_uc010whd.2_5'UTR	NM_176863	NP_789839	P61289	PSME3_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) (PSME3), transcript variant 2, mRNA.	52					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction	cytoplasm|nucleus|proteasome activator complex	MDM2 binding|endopeptidase activator activity|identical protein binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCTTAAACATCCATGACCTA	0.418000													25	82					0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50498486	50498486	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:50498486G>A	uc001rvz.3	+	1	204	c.171G>A	c.(169-171)caG>caA	p.Q57Q	GPD1_uc010smp.1_Silent_p.Q57Q|GPD1_uc001rwa.3_Silent_p.Q57Q	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	57					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	TCAACACGCAGCATGAGAATG	0.547000													5	260					0	0	1	0	0
PDCL	5082	broad.mit.edu	37	9	125582653	125582653	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr9:125582653G>A	uc004bmz.2	-	3	808	c.617C>T	c.(616-618)gCc>gTc	p.A206V		NM_005388	NP_005379	Q13371	PHLP_HUMAN	Homo sapiens phosducin-like (PDCL), mRNA.	206					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GTACTCTGCGGCAAGGCAGAT	0.478000													3	37					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108218046	108218046	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:108218046T>A	uc001pkb.1	+	58	9010	c.8625T>A	c.(8623-8625)aaT>aaA	p.N2875K	ATM_uc009yxr.1_Missense_Mutation_p.N2875K|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.N1527K	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2875	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.N2875T(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGTACAGAATATCTTGATAA	0.303000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			21	60					0	0	1	0	0
ARMC10	83787	broad.mit.edu	37	7	102727086	102727086	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:102727086C>T	uc003vaw.2	+	3	795	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	ARMC10_uc003vay.2_Missense_Mutation_p.R135C|ARMC10_uc003vax.2_Missense_Mutation_p.R100C|ARMC10_uc003vbb.2_Missense_Mutation_p.R100C|ARMC10_uc011kli.2_Missense_Mutation_p.R100C|ARMC10_uc010lis.2_Missense_Mutation_p.R100C	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNA.	135					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						GGCTATTATTCGTGAATTGGG	0.358000													9	103					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551034	100551034	+	Splice_Site	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:100551034C>G	uc001tgs.3	-	5	735	c.291_splice	c.e5-1	p.G97_splice	GOLGA2P5_uc001tgt.3_Non-coding_Transcript|GOLGA2P5_uc021rcm.1_Splice_Site|DQ583972_uc001tgv.1_5'Flank|DQ579681_uc001tgx.3_5'Flank					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		GATGTACTCTCCTGCAGGAGG	0.622000													36	64					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109519153	109519153	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:109519153T>G	uc010sxi.2	+	7	839	c.735T>G	c.(733-735)ttT>ttG	p.F245L	USP30_uc001tnu.4_Missense_Mutation_p.F214L|USP30_uc001tnw.4_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	245					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTGTTCGATTTGATACCTTTG	0.353000													33	75					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104165237	104165237	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr10:104165237A>G	uc001kvg.1	-	11	2719	c.2192T>C	c.(2191-2193)gTc>gCc	p.V731A	PSD_uc001kvh.1_Missense_Mutation_p.V352A|PSD_uc009xxd.1_Missense_Mutation_p.V731A	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	731					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCGCTTGATGACCTTGGGGTT	0.662000													29	45					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:54754843A>G	uc010yer.1	-	12	1903	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													3	55					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322889	5322889	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:5322889G>A	uc010qza.2	-	0	288	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATTGGGTGAAACAGGCAG	0.507000													3	121					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016643	1016643	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:1016643T>G	uc001lsw.2	-	30	6209	c.6158A>C	c.(6157-6159)aAg>aCg	p.K2053T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2053	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCTGTGGCCTTGAGCGTTGT	0.567000													16	621					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179168	65179168	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:65179168G>T	uc002lke.1	-	1	3932	c.2708C>A	c.(2707-2709)aCt>aAt	p.T903N	DSEL_uc021ulg.1_Missense_Mutation_p.T903N	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	893						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTCCAACTCAGTTTCAGGAAT	0.418000													15	48					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191354580	191354580	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr2:191354580G>C	uc002urz.2	+	5	2203	c.1879G>C	c.(1879-1881)Gat>Cat	p.D627H	MFSD6_uc010zge.1_Missense_Mutation_p.D89H	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	627					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGCAGTGCCAGATGAGGAAGA	0.478000													3	55					0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38022567	38022567	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:38022567G>A	uc001cbj.3	+	0	48	c.38G>A	c.(37-39)aGc>aAc	p.S13N	SNIP1_uc010oid.2_5'Flank|SNIP1_uc001cbi.3_5'Flank|DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	0					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACAGGGCAGCTGCTGGGTT	0.647000													3	102					0	0	1	0	0
UBR7	55148	broad.mit.edu	37	14	93684961	93684961	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr14:93684961G>A	uc001ybm.4	+	6	926	c.690G>A	c.(688-690)gaG>gaA	p.E230E	UBR7_uc001ybn.4_Silent_p.E154E|UBR7_uc010auq.3_Silent_p.E79E	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 7 (putative) (UBR7), transcript variant 2, mRNA.	230							ubiquitin-protein ligase activity|zinc ion binding	p.G229V(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAAATGGAGAGCATCAAGATA	0.443000													3	126					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271006	65271006	+	RNA	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:65271006C>G	uc010roh.2	+	0		c.5774C>G			AF113016_uc001ody.3_Non-coding_Transcript					Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		CTGTTAGAATCAGATGTTACT	0.303000													10	80					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180165946	180165946	+	Missense_Mutation	SNP	G	G	A	rs144062716		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:180165946G>A	uc001gnz.3	+	11	2093	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	QSOX1_uc001gny.3_Intron|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	673					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGCGTGGGCCGCAGCTCCAAG	0.677000													3	69					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38830099	38830099	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr6:38830099G>A	uc021yzh.1	+	43	6284	c.6175G>A	c.(6175-6177)Ggt>Agt	p.G2059S	DNAH8_uc003ooe.2_Missense_Mutation_p.G1842S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAACATGGGAGGTGCTCCCGC	0.473000													3	136					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:7577085C>T	uc002gim.2	-	7	1047	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K|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.	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(218)|p.E285*(44)|p.E285V(14)|p.E285Q(8)|p.T284P(8)|p.0?(8)|p.E285G(5)|p.E285E(3)|p.T284T(3)|p.T284A(3)|p.E285_N288delEEEN(2)|p.T284fs*61(2)|p.T284fs*62(2)|p.E285A(2)|p.T284fs*21(2)|p.R282_E287delRRTEEE(2)|p.T284_G293del10(2)|p.E285fs*13(2)|p.?(2)|p.L265_K305del41(2)|p.T284fs*57(2)|p.R283fs*16(2)|p.V272_K292del21(2)|p.E285_L289delEEENL(2)|p.E285fs*60(2)|p.E285fs*20(2)|p.G279fs*59(1)|p.T284I(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.R283fs*59(1)|p.C275fs*20(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		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)			21	26					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19356217	19356217	+	Silent	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:19356217C>T	uc002nlz.3	+	12	3687	c.3588C>T	c.(3586-3588)aaC>aaT	p.N1196N	NCAN_uc002nma.3_Intron	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1196	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGCGCTGGAACGATGTCCCCT	0.552000													30	64					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12946524	12946524	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:12946524G>T	uc021qdx.1	+	10	1559	c.939G>T	c.(937-939)gaG>gaT	p.E313D	TEAD1_uc001mkk.4_Missense_Mutation_p.E217D|TEAD1_uc009ygl.3_Missense_Mutation_p.E134D	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	313	Ser/Thr/Tyr-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTCAGTACGAGAGTTCTGAAA	0.418000													13	89					0	0	1	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101129	27101129	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr6:27101129G>A	uc003niw.3	+	0	313	c.279G>A	c.(277-279)gaG>gaA	p.E93E	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.3_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2ag (HIST1H2AG), mRNA.	93					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ACGACGAGGAGCTCAACAAGC	0.617000													4	204					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80559388	80559388	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:80559388G>A	uc003khc.4	+	9	1335	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.A365T|CKMT2_uc003khd.4_Missense_Mutation_p.A365T|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	365	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGCCGCGGTCGCAGATGTGTA	0.463000													3	109					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389054	1389055	+	Frame_Shift_Ins	INS	-	CA	CA	rs71299249		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr4:1389054_1389055insCA	uc003gdf.2	+	0	3715_3716	c.755_756insCA	c.(754-756)ctcfs	p.L252fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	252					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.C254fs*176(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACGTGCCGAT	0.693													7	889	---	---	---	---					
KCTD16	57528	broad.mit.edu	37	5	143853531	143853531	+	Frame_Shift_Del	DEL	A	-	-			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:143853531delA	uc003lnm.1	+	3	1770	c.1141delA	c.(1141-1143)aaafs	p.K381fs	KCTD16_uc003lnn.1_Frame_Shift_Del_p.K381fs	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	381						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATGAGCAGCAAAAAAAAAGC	0.468													7	84	---	---	---	---					
RNF145	153830	broad.mit.edu	37	5	158630642	158630642	+	Frame_Shift_Del	DEL	T	-	-	rs74770414		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:158630642delT	uc010jiq.2	-	1	224	c.74delA	c.(73-75)aagfs	p.K25fs	RNF145_uc011ddy.2_Frame_Shift_Del_p.K9fs|RNF145_uc003lxo.2_Frame_Shift_Del_p.K23fs|RNF145_uc011ddz.2_Frame_Shift_Del_p.K12fs|RNF145_uc003lxp.3_5'UTR|RNF145_uc011dea.2_Frame_Shift_Del_p.K11fs	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	0						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttcttttttttttt	0.363													3	4	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	-	-	rs3832971		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr14:71275774_71275776delCCT	uc001xmm.3	-	0	113_115	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_uc001xml.3_In_Frame_Del_p.E38del	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													5	7	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1009551	1009577	+	In_Frame_Del	DEL	GCCCCCGCGGAGGCCCCACCACACTCT	-	-	rs58448123		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	uc002lqo.1	+	8	3082_3108	c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	c.(3082-3108)gcccccgcggaggccccaccacactctdel	p.APAEAPPHS1028del	FLJ00277_uc002lqp.1_5'UTR	NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	1028					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGCCAGAGCGGCCCCCGCGGAGGCCCCACCACACTCTGGCCGACCGG	0.692													4	5	---	---	---	---					
