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
RGS7	6000	broad.mit.edu	37	1	241099995	241099995	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:241099995G>T	ENST00000366565.1	-	5	619	c.238C>A	c.(238-240)Cat>Aat	p.H80N	RGS7_ENST00000366564.1_Missense_Mutation_p.H80N|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.H80N|RGS7_ENST00000366562.4_Missense_Mutation_p.H80N|RGS7_ENST00000366563.1_Missense_Mutation_p.H80N|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000331110.7_Missense_Mutation_p.H54N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	80	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTCCCAAATGGAGCGCCTCC	0.388000													8	65					0.00307968	0.00328386	1	1	0
DGKA	1606	broad.mit.edu	37	12	56334184	56334184	+	Silent	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:56334184G>T	ENST00000331886.5	+	11	1339	c.885G>T	c.(883-885)ctG>ctT	p.L295L	DGKA_ENST00000551156.1_Silent_p.L295L|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.L295L	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	295					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ACCACAGTCTGACCGGGCTGC	0.602000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	110					0.000978159	0.0010488	1	1	0
AGFG2	3268	broad.mit.edu	37	7	100161551	100161551	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:100161551C>T	ENST00000300176.4	+	10	1388	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	422	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCGCTGTTCCCCCCGCAGA	0.597000											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	116					0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9725446	9725446	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:9725446T>A	ENST00000381844.4	-	5	870	c.707A>T	c.(706-708)gAa>gTa	p.E236V	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.E236V			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	236					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CGCATCACATTCTTCTCCTGC	0.368000													5	64					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132405861	132405861	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:132405861C>T	ENST00000321867.4	+	28	3459	c.3108C>T	c.(3106-3108)tgC>tgT	p.C1036C	ULK1_ENST00000540647.1_Silent_p.C281C	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1036					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCAAGCTGTGCATTGAGCGGA	0.667000													11	161					0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28858316	28858316	+	Splice_Site	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:28858316C>T	ENST00000373833.6	+	6	360	c.73_splice	c.e6-1	p.V25_splice	RCC1_ENST00000373831.3_Splice_Site_p.V56_splice|RCC1_ENST00000373832.1_Splice_Site_p.V25_splice|RCC1_ENST00000398958.2_Splice_Site_p.V25_splice			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	25					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTTCAGTCTCACACAGGT	0.587000													13	48					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102516442	102516442	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:102516442C>T	ENST00000360184.4	+	77	13883	c.13719C>T	c.(13717-13719)aaC>aaT	p.N4573N	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4573					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAACAACAACAAGCTGTCAC	0.552000													15	77					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413558	26413558	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:26413558A>G	ENST00000289361.6	+	10	1548	c.1180A>G	c.(1180-1182)Aga>Gga	p.R394G	BTN3A1_ENST00000414912.2_Missense_Mutation_p.R342G	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	394	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CATATCAGGGAGACATTACTG	0.507000													7	118					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439539	145439539	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:145439539C>G	ENST00000511217.1	+	8	1718	c.1666C>G	c.(1666-1668)Cca>Gca	p.P556A	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P556A|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	556							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCTACCAGCCACAGGGGAT	0.672000													8	104					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179526101	179526101	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:179526101C>A	ENST00000467460.1	-	13	1807	c.1477G>T	c.(1477-1479)Gca>Tca	p.A493S	PEX5L_ENST00000465751.1_Missense_Mutation_p.A469S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A385S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A385S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A458S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A491S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A301S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A450S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A434S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	493					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCATCTATTGCTCTATTAAAT	0.453000													5	58					0.184627	0.185589	1	1	0
TAAR9	134860	broad.mit.edu	37	6	132859943	132859943	+	RNA	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:132859943C>G	ENST00000434551.1	+	0	515					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TACACGGGAGCCAACGAAGAA	0.428000													6	117					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099269	46099269	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:46099269G>C	ENST00000295452.4	-	2	369	c.202C>G	c.(202-204)Ctg>Gtg	p.L68V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	68					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AATGAATTCAGAATTTGTGTG	0.378000													20	74					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150416662	150416662	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:150416662G>T	ENST00000295910.6	-	3	521	c.469C>A	c.(469-471)Cat>Aat	p.H157N	FAM194A_ENST00000491361.1_Missense_Mutation_p.H11N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	157										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AAATTGCGATGAATATTTCTG	0.318000													12	105					1.08611e-07	1.24035e-07	1	1	0
UBXN11	91544	broad.mit.edu	37	1	26609384	26609384	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:26609384C>T	ENST00000314675.7	-	9	841	c.762G>A	c.(760-762)gaG>gaA	p.E254E	UBXN11_ENST00000374217.2_Silent_p.E341E|UBXN11_ENST00000374221.3_Silent_p.E374E|UBXN11_ENST00000374222.1_Silent_p.E374E|UBXN11_ENST00000374223.1_Silent_p.E131E|UBXN11_ENST00000357089.4_Silent_p.E341E	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	374	SEP.					cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						AGGTGGGCGTCTCCACCACAA	0.647000													17	61					0	0	1	0	0
PRKY	5616	broad.mit.edu	37	Y	7172080	7172080	+	RNA	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrY:7172080A>G	ENST00000528056.1	+	0	610					NR_028062.1															large_intestine(2)|lung(3)|skin(1)	6						CGCCGGAAGCAGGAGCAGCAC	0.597000													8	67					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517000		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)			5	24					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28408263	28408263	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:28408263C>T	ENST00000261609.7	-	69	10831	c.10723G>A	c.(10723-10725)Ggc>Agc	p.G3575S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3575					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCCCCATGCCGGAAAGCACC	0.647000													11	65					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14034231	14034231	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:14034231A>G	ENST00000318003.7	+	15	1968	c.1727A>G	c.(1726-1728)tAt>tGt	p.Y576C	CC2D1A_ENST00000589606.1_Missense_Mutation_p.Y576C	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	576					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCCGGCGCTATGGTGAACTC	0.682000													9	88					0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63996766	63996766	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:63996766C>T	ENST00000279206.3	+	4	783	c.627C>T	c.(625-627)atC>atT	p.I209I	RP11-783K16.14_ENST00000534988.1_RNA|NUDT22_ENST00000441250.2_Silent_p.I176I	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	209	Nudix hydrolase.						hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						TGTTGGGCATCGCCCGAAATG	0.632000													3	12					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57556243	57556243	+	Silent	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:57556243G>T	ENST00000243077.3	+	14	2812	c.2346G>T	c.(2344-2346)ctG>ctT	p.L782L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	782					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACCCTTCTGCGCAGTGAGC	0.617000													12	96					1.5842e-08	1.84187e-08	1	1	0
GTF3C5	9328	broad.mit.edu	37	9	135933278	135933278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:135933278G>T	ENST00000372097.5	+	11	1794	c.1471G>T	c.(1471-1473)Gag>Tag	p.E491*	GTF3C5_ENST00000372108.5_Nonsense_Mutation_p.E498*|GTF3C5_ENST00000372099.6_Nonsense_Mutation_p.E482*|GTF3C5_ENST00000342018.8_Nonsense_Mutation_p.E429*	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	491	Glu-rich.|Poly-Glu.					transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		cgaggaggatgaggaggagga	0.577000													9	52					0.010729	0.011193	1	1	0
TRIM50	135892	broad.mit.edu	37	7	72738498	72738498	+	Silent	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:72738498G>C	ENST00000333149.2	-	2	488	c.288C>G	c.(286-288)ctC>ctG	p.L96L	TRIM50_ENST00000493498.1_5'UTR|TRIM50_ENST00000453152.1_Silent_p.L96L	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	96						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGAAAAGGCTGAGCGGGTTCC	0.667000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	116					0	0	1	0	0
MIR124-2HG	100130155	broad.mit.edu	37	8	65291711	65291711	+	RNA	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:65291711G>C	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							TCCGGATCAAGATTAGAGGCT	0.517000													4	47					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1550120	1550120	+	Silent	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:1550120G>T	ENST00000262319.6	+	7	1236	c.957G>T	c.(955-957)ctG>ctT	p.L319L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	319						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGAGCCTGCTGGGCCATCTGG	0.697000													5	21					1.024e-07	1.17638e-07	1	1	0
ALDH16A1	126133	broad.mit.edu	37	19	49967959	49967959	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:49967959A>T	ENST00000293350.4	+	12	1671	c.1508A>T	c.(1507-1509)tAt>tTt	p.Y503F	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.Y452F|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.Y340F|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.Y338F	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	503							oxidoreductase activity|protein binding	p.Y503C(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		AACCTGAACTATGACACCTTT	0.622000													29	227					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79655791	79655791	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:79655791C>A	ENST00000275034.4	-	38	4724	c.4557G>T	c.(4555-4557)gaG>gaT	p.E1519D	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1519					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAGATGGTTGCTCAGTGACAA	0.408000													14	75					1.49906e-05	1.67236e-05	1	1	0
AQP9	366	broad.mit.edu	37	15	58471425	58471425	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:58471425C>T	ENST00000219919.4	+	5	964	c.594C>T	c.(592-594)ctC>ctT	p.L198L	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Silent_p.L198L|AQP9_ENST00000558772.1_Silent_p.L133L	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	198					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CCATCGGCCTCCTGATTATTG	0.547000													8	62					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148529746	148529746	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:148529746G>A	ENST00000320356.2	-	4	464	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	EZH2_ENST00000483967.1_Missense_Mutation_p.P106S|EZH2_ENST00000350995.2_Intron|EZH2_ENST00000478654.1_Missense_Mutation_p.P106S|EZH2_ENST00000541220.1_Missense_Mutation_p.P106S|EZH2_ENST00000460911.1_Missense_Mutation_p.P115S|EZH2_ENST00000476773.1_Missense_Mutation_p.P106S|EZH2_ENST00000536783.1_Missense_Mutation_p.P6S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	115	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGCTGTAGGGGAGACCAAGAA	0.338000			Mis		DLBCL								4	54					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156479	94156479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:94156479G>T	ENST00000553484.1	+	47	7439	c.7285G>T	c.(7285-7287)Gag>Tag	p.E2429*	UNC79_ENST00000393151.2_Nonsense_Mutation_p.E2407*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E2368*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E2230*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2407						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGAATTCATTGAGTGTGTCTC	0.453000													12	80					0.000151284	0.000165897	1	1	0
PPL	5493	broad.mit.edu	37	16	4934533	4934533	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:4934533T>A	ENST00000345988.2	-	22	4212	c.4123A>T	c.(4123-4125)Atc>Ttc	p.I1375F	PPL_ENST00000590782.2_Missense_Mutation_p.I1373F	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1375					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCACATCGATGCTCTCGGCA	0.682000													14	218					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70958211	70958211	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:70958211C>T	ENST00000359655.4	+	9	1167	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	369	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGGGACTGCATTGTCTGTT	0.428000													9	149					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561533	232561533	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:232561533A>G	ENST00000366630.1	-	17	4790	c.4432T>C	c.(4432-4434)Tct>Cct	p.S1478P	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S552P|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1478P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1478					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCCTTGGAGACAGGTTCCCA	0.527000													4	21					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810593	65810593	+	Silent	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:65810593G>T	ENST00000312006.4	-	3	962	c.681C>A	c.(679-681)ctC>ctA	p.L227L	GAL3ST3_ENST00000527878.1_Silent_p.L227L	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	227					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CCTGGCGGATGAGGCCCGCCA	0.667000													14	50					7.93312e-07	9.00643e-07	1	1	0
SUV420H1	51111	broad.mit.edu	37	11	67957513	67957513	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:67957513C>T	ENST00000304363.4	-	2	384	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	SUV420H1_ENST00000405515.1_Missense_Mutation_p.V11M|SUV420H1_ENST00000402789.1_Missense_Mutation_p.V11M|SUV420H1_ENST00000402185.2_Missense_Mutation_p.V11M|SUV420H1_ENST00000401547.2_Missense_Mutation_p.V11M	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCATTCACCACCATGATCTTG	0.458000													30	205					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79383343	79383343	+	Silent	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:79383343T>A	ENST00000370742.3	-	12	1788	c.1725A>T	c.(1723-1725)atA>atT	p.I575I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	575					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATGCTGGTCCTATAAAACTCC	0.294000													3	23					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221869	55221869	+	RNA	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:55221869C>T	ENST00000413439.1	+	0	1415																											CAGCCCCTCACCCATCCTTCT	0.632000													9	40					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11308556	11308556	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:11308556T>C	ENST00000380732.3	-	2	630	c.631A>G	c.(631-633)Atg>Gtg	p.M211V	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron			O43182	RHG06_HUMAN	Rho GTPase activating protein 6	196					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCGGAATTCATCGGTGGTTTT	0.388000													12	54					0	0	1	0	0
PRPF18	8559	broad.mit.edu	37	10	13658406	13658406	+	Silent	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:13658406T>C	ENST00000378572.3	+	9	961	c.801T>C	c.(799-801)gaT>gaC	p.D267D		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	267					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGGCAAATGATGCTTATCTTC	0.418000													7	61					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463924	25463924	+	RNA	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:25463924C>A	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						GACCTGGGACCTGGTGGCTCT	0.592000													9	104					0.0477658	0.04852	1	1	0
POLR1E	64425	broad.mit.edu	37	9	37486629	37486629	+	Silent	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:37486629C>G	ENST00000377792.3	+	1	480	c.192C>G	c.(190-192)gtC>gtG	p.V64V	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	64					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		ACAGTCTAGTCCCACCgtaca	0.552000													4	56					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791586	34791586	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:34791586A>C	ENST00000299505.6	+	2	1081	c.208A>C	c.(208-210)Act>Cct	p.T70P		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	70										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CATGCCCCACACTACTCCTAT	0.622000													13	62					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892727	22892727	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:22892727C>T	ENST00000543184.1	-	4	1236	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	PRAME_ENST00000539862.1_Missense_Mutation_p.R109Q|PRAME_ENST00000402697.1_Missense_Mutation_p.R125Q|PRAME_ENST00000405655.3_Missense_Mutation_p.R125Q|PRAME_ENST00000424204.2_Missense_Mutation_p.R109Q|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000398743.2_Missense_Mutation_p.R125Q|PRAME_ENST00000398741.1_Missense_Mutation_p.R125Q	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	125					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGAGTTCTTCCGTAAATCCAG	0.453000													5	84					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74559263	74559263	+	Missense_Mutation	SNP	C	C	G	rs143922076	by1000genomes	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:74559263C>G	ENST00000340360.6	-	15	1932	c.1601G>C	c.(1600-1602)aGt>aCt	p.S534T	XRRA1_ENST00000527087.1_Missense_Mutation_p.S447T|XRRA1_ENST00000321448.8_Missense_Mutation_p.S259T	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	534					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGTCTCTTCACTATGCACAGT	0.587000													11	37					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346522	29346522	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:29346522G>A	ENST00000558402.1	+	5	1034	c.435G>A	c.(433-435)gcG>gcA	p.A145A	APBA2_ENST00000558330.1_Silent_p.A145A|APBA2_ENST00000411764.1_Silent_p.A145A|APBA2_ENST00000561069.1_Silent_p.A145A|APBA2_ENST00000558259.1_Silent_p.A145A			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	145					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGGACTCGGCGGGCCCGCACC	0.672000													10	57					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61712984	61712984	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:61712984A>T	ENST00000423902.2	+	5	2755	c.2276A>T	c.(2275-2277)tAc>tTc	p.Y759F	CHD7_ENST00000525508.1_Missense_Mutation_p.Y759F|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	759					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAAAGCGCTACACTGAAGAC	0.478000													4	20					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2728467	2728467	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:2728467G>A	ENST00000320876.6	+	23	3124	c.2786G>A	c.(2785-2787)cGa>cAa	p.R929Q	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R929Q|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	929					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CACCCTCGTCGACTGAAAGTG	0.318000													3	22					0	0	1	0	0
RAD52	5893	broad.mit.edu	37	12	1039024	1039024	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:1039024G>C	ENST00000358495.3	-	5	447	c.309C>G	c.(307-309)ttC>ttG	p.F103L	RAD52_ENST00000545564.1_Missense_Mutation_p.F103L|RAD52_ENST00000539046.1_Missense_Mutation_p.F26L|RAD52_ENST00000536177.1_Missense_Mutation_p.F103L|RAD52_ENST00000430095.2_Missense_Mutation_p.F103L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	103					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CTCCCACGTAGAACTTGCCAT	0.547000								Homologous recombination					44	248					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36934615	36934615	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:36934615T>C	ENST00000310758.4	-	17	2092	c.1445A>G	c.(1444-1446)cAg>cGg	p.Q482R	ELMO1_ENST00000396045.3_Missense_Mutation_p.Q2R|ELMO1_ENST00000396040.2_Missense_Mutation_p.Q2R|ELMO1_ENST00000448602.1_Missense_Mutation_p.Q482R|ELMO1_ENST00000442504.1_Missense_Mutation_p.Q482R|ELMO1_ENST00000341056.3_Missense_Mutation_p.Q184R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	482	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTTCACCACCTGCATTACCTG	0.502000													5	65					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65198159	65198159	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:65198159C>T	ENST00000247226.7	+	6	1070	c.762C>T	c.(760-762)cgC>cgT	p.R254R	PLEKHG3_ENST00000394691.1_Silent_p.R310R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	310	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCACATTCCGCGTGCATCGCG	0.557000													13	73					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753872	38753872	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:38753872A>G	ENST00000449082.2	-	22	3868	c.3869T>C	c.(3868-3870)aTc>aCc	p.I1290T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1290					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGCCAGAAGATGAGGCAGAC	0.527000													15	89					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12032584	12032584	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:12032584C>T	ENST00000415385.3	+	10	1106	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	MAP2K4_ENST00000353533.5_Silent_p.F340F			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	340	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CCCCGAGTTTCATCAACTTTG	0.423000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								12	45					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72912896	72912896	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:72912896G>C	ENST00000339594.4	-	4	840	c.502C>G	c.(502-504)Cag>Gag	p.Q168E	BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q168E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	168	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAGCAATCTGACTGGAGTTC	0.418000													27	170					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141555229	141555229	+	Silent	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:141555229T>C	ENST00000442267.2	-	16	2693	c.2619A>G	c.(2617-2619)ggA>ggG	p.G873G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	873						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GAGCAAACATTCCCTTGAACT	0.532000													5	51					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24441157	24441157	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:24441157C>G	ENST00000383168.4	-	3	678	c.550G>C	c.(550-552)Gat>Cat	p.D184H	AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000581374.1_Missense_Mutation_p.D162H|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.D162H	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	184					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CCAGTGACATCAGTCCGTTTG	0.388000													10	79					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732346	144732346	+	Silent	SNP	A	A	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:144732346A>C	ENST00000501748.2	+	1	393	c.304A>C	c.(304-306)Aga>Cga	p.R102R	ZNF623_ENST00000526926.1_Silent_p.R62R|ZNF623_ENST00000458270.2_Silent_p.R62R	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAAGTCAGGAAGAAACCATAT	0.502000													14	131					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187979	140187979	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140187979A>T	ENST00000530339.1	+	1	1207	c.1207A>T	c.(1207-1209)Aat>Tat	p.N403Y	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.N403Y|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.N403Y	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTTCAAGAATTACTACTC	0.612000													48	210					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713505	30713505	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:30713505A>T	ENST00000295754.5	+	4	1212	c.830A>T	c.(829-831)aAg>aTg	p.K277M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.K302M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	277	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GTGGCAGTCAAGATCTTTCCC	0.488000													11	100					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19120694	19120694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:19120694G>A	ENST00000601879.1	-	5	2605	c.2308C>T	c.(2308-2310)Cag>Tag	p.Q770*	SUGP2_ENST00000452918.2_Nonsense_Mutation_p.Q770*|SUGP2_ENST00000337018.6_Nonsense_Mutation_p.Q770*|SUGP2_ENST00000456085.2_Nonsense_Mutation_p.Q539*|SUGP2_ENST00000600377.1_Nonsense_Mutation_p.Q784*			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	770	Pro/Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAAGAGGTCTGAGGTGCTTCA	0.617000													7	103					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123047530	123047530	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:123047530A>G	ENST00000462833.1	-	6	2978	c.1766T>C	c.(1765-1767)gTc>gCc	p.V589A	ADCY5_ENST00000309879.5_Missense_Mutation_p.V239A|ADCY5_ENST00000491190.1_Missense_Mutation_p.V222A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	589	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGCTAGCGTGACATCGTTAGA	0.617000											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	133					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99434613	99434613	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:99434613G>A	ENST00000268035.6	+	3	1311	c.700G>A	c.(700-702)Gag>Aag	p.E234K	IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Missense_Mutation_p.E234K|RP11-654A16.1_ENST00000558736.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	234					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTGCCACCCCGAGTGCCTGGG	0.647000													5	32					0	0	1	0	0
OIP5	11339	broad.mit.edu	37	15	41602007	41602007	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:41602007G>A	ENST00000220514.3	-	5	694	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	212					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTTCATTAGTGATTTTAAGCG	0.378000													4	62					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344133	38344133	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:38344133G>C	ENST00000374618.3	+	5	1259	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	ZNF33A_ENST00000432900.2_Missense_Mutation_p.E367Q|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E360Q|ZNF33A_ENST00000458705.2_Missense_Mutation_p.E360Q|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TCAATGTAATGAATGTGAAAA	0.413000													16	90					0	0	1	0	0
RRP7A	27341	broad.mit.edu	37	22	42912067	42912067	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:42912067C>G	ENST00000323013.6	-	3	307	c.292G>C	c.(292-294)Gag>Cag	p.E98Q		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	98							nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						TTTGGGCTCTCAGCCAGGTCC	0.627000													9	44					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48888659	48888659	+	Silent	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:48888659A>G	ENST00000314014.2	+	8	452	c.321A>G	c.(319-321)ggA>ggG	p.G107G	C12orf54_ENST00000548364.1_Silent_p.G107G|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	107										endometrium(1)|large_intestine(4)	5						AGCCATCAGGAGGCCGTATCC	0.483000													17	118					0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119307742	119307742	+	Silent	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:119307742A>G	ENST00000553456.3	+	3	1582	c.758A>G	c.(757-759)tAa>tGa	p.*253*	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	0						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TCAGATGATTAAAAACATAAA	0.453000													6	26					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38853090	38853090	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr21:38853090G>C	ENST00000339659.3	+	4	1921	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q	DYRK1A_ENST00000321219.8_Missense_Mutation_p.E160Q|DYRK1A_ENST00000451934.1_Missense_Mutation_p.E160Q|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E160Q|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E160Q|DYRK1A_ENST00000338785.3_Missense_Mutation_p.E160Q	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	160					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.E160K(2)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGATCGTTACGAAATTGACTC	0.333000													9	42					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85948094	85948094	+	Missense_Mutation	SNP	C	C	T	rs140514602	by1000genomes	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:85948094C>T	ENST00000268638.5	+	6	991	c.569C>T	c.(568-570)aCg>aTg	p.T190M	IRF8_ENST00000562492.1_5'UTR	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	190					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGCTGGTGACGGGGTACACC	0.587000													5	52					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397683	111397683	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:111397683G>T	ENST00000265162.5	+	1	455	c.113G>T	c.(112-114)gGc>gTc	p.G38V		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	38					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTGCCGTGGGCTTGACCAGA	0.602000													14	145					2.32078e-09	2.71461e-09	1	1	0
GRIN3B	116444	broad.mit.edu	37	19	1005279	1005279	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:1005279C>T	ENST00000234389.3	+	3	1798	c.1779C>T	c.(1777-1779)acC>acT	p.T593T		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	593					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|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)	TCTTCCTCACCGTGTACGAGT	0.662000													11	67					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986011	61986011	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr13:61986011G>T	ENST00000409186.1	-	5	4326	c.2221C>A	c.(2221-2223)Ctt>Att	p.L741I	PCDH20_ENST00000409204.4_Missense_Mutation_p.L741I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	714	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACAAAACAAGAGGAGGGTTG	0.453000													24	140					3.08376e-08	3.56387e-08	1	1	0
CBLN2	147381	broad.mit.edu	37	18	70205525	70205525	+	Silent	SNP	G	G	A	rs149543931		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:70205525G>A	ENST00000269503.4	-	5	1334	c.561C>T	c.(559-561)ggC>ggT	p.G187G	CBLN2_ENST00000584764.1_Silent_p.G71G|CBLN2_ENST00000581073.1_Silent_p.G73G|CBLN2_ENST00000585159.1_Silent_p.G187G|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	187	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCAGCAGCACGCCATTGCTAG	0.507000													15	78					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589637	140589637	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140589637G>A	ENST00000239450.2	+	1	1347	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	PCDHB12_ENST00000541609.1_Silent_p.P49P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		386	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCTATCCCGGAGGACATCC	0.468000													16	59					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102020655	102020655	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:102020655G>A	ENST00000549145.1	+	4	209	c.109G>A	c.(109-111)Gag>Aag	p.E37K	MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000550270.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E37K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E11K|MYBPC1_ENST00000360610.2_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E37K|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000551300.1_5'UTR			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	35					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTCAGATGAAGAGGAAGTCTC	0.393000													6	60					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			24	71					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43581625	43581625	+	Missense_Mutation	SNP	G	G	C	rs142864589	byFrequency	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:43581625G>C	ENST00000372236.4	+	11	1768	c.1473G>C	c.(1471-1473)caG>caC	p.Q491H	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.Q429H	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	491					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CAGAAAGGCAGAAAGTTAAAG	0.483000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				20	83					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7612679	7612679	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:7612679G>A	ENST00000226091.2	+	5	1205	c.808G>A	c.(808-810)Ggg>Agg	p.G270R		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	270					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGGCTCCTTCGGGAGGGGAGG	0.716000													6	14					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816047	6816047	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:6816047C>T	ENST00000332601.3	-	1	1081	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTGATTGCGCAGGCAGTA	0.488000													9	106					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23164844	23164844	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:23164844C>G	ENST00000545771.1	+	5	642	c.429C>G	c.(427-429)ttC>ttG	p.F143L	KLHL7_ENST00000410047.1_Intron|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000409689.1_Intron|KLHL7_ENST00000545443.1_Intron|KLHL7_ENST00000322275.5_Intron|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000339077.4_Intron|KLHL7_ENST00000322231.7_Intron			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	0						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTTTATTTCTAATTTAATT	0.284000													6	18					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105290756	105290756	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:105290756A>C	ENST00000306107.5	+	15	2225	c.1725A>C	c.(1723-1725)gaA>gaC	p.E575D	ALCAM_ENST00000486979.2_Missense_Mutation_p.E524D|ALCAM_ENST00000472644.2_Missense_Mutation_p.E562D|ALCAM_ENST00000389927.4_Missense_Mutation_p.E297D	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	575					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAAAGTTAGAAGAAAACAATC	0.358000													6	18					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207297268	207297268	+	Splice_Site	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:207297268T>C	ENST00000367070.3	+	5	624	c.428_splice	c.e5-1	p.F144_splice		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	144	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTTATTCAGATTTTTCTTAAT	0.338000													4	15					0	0	1	0	0
SPATA25	128497	broad.mit.edu	37	20	44515173	44515173	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr20:44515173G>A	ENST00000372519.3	-	2	711	c.667C>T	c.(667-669)Cct>Tct	p.P223S		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	223						integral to membrane											CAGGAGCCAGGAGGCTGGCCC	0.592000													28	230					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483632	56483632	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:56483632G>T	ENST00000370765.6	-	23	5307	c.5200C>A	c.(5200-5202)Cac>Aac	p.H1734N	DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1113					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.H1734N(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCTTTCTGTGGGTCATCTGC	0.383000													40	136					5.43694e-19	6.4376e-19	1	1	0
C1orf168	199920	broad.mit.edu	37	1	57254645	57254645	+	Splice_Site	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:57254645C>A	ENST00000343433.6	-	3	1000		c.e3+1		C1orf168_ENST00000484327.1_Splice_Site	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CATTTCCTTACCTTCCCCCTG	0.597000													7	111					0.000157383	0.00017161	1	1	0
TOM1L2	146691	broad.mit.edu	37	17	17788011	17788011	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:17788011C>T	ENST00000581396.1	-	4	384	c.288G>A	c.(286-288)agG>agA	p.R96R	TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000535933.1_Silent_p.R146R|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000395739.4_Intron|TOM1L2_ENST00000318094.10_Intron|TOM1L2_ENST00000379504.3_Silent_p.R146R	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	146	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAACCCCTTTCCTCTTCAGCT	0.517000													15	117					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108455272	108455272	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:108455272C>T	ENST00000408999.3	+	4	334	c.257C>T	c.(256-258)tCa>tTa	p.S86L	RGPD4_ENST00000354986.4_Missense_Mutation_p.S86L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	86					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TATTAGCGTTCAGTGGAATTA	0.279000													14	31					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21971906	21971906	+	Silent	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:21971906A>T	ENST00000298717.4	-	2	370	c.219T>A	c.(217-219)gcT>gcA	p.A73A	METTL3_ENST00000538267.1_Silent_p.A73A	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	73					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CAGGATCTGTAGCTAATTCAG	0.532000													19	162					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965095	42965095	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:42965095C>G	ENST00000399770.2	+	2	571	c.571C>G	c.(571-573)Cga>Gga	p.R191G		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	191	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ACGATGCCGACGAGTTTCTGA	0.428000													45	387					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764776	140764776	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140764776C>G	ENST00000518325.1	+	1	2310	c.2310C>G	c.(2308-2310)ttC>ttG	p.F770L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGATCTTCCCCCAGCCCA	0.512000													12	198					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504892	70504892	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:70504892C>T	ENST00000310961.5	+	22	3704	c.3286C>T	c.(3286-3288)Cca>Tca	p.P1096S	LRRC7_ENST00000415775.2_Missense_Mutation_p.P375S|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1091S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1091						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTTTCTCAGCCATCTGTGAA	0.537000													8	110					0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57785854	57785854	+	Silent	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:57785854C>G	ENST00000379661.3	+	8	911	c.519C>G	c.(517-519)ctC>ctG	p.L173L		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	173	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GCCTCCAGCTCTGGGATCTCA	0.602000													6	24					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761495	55761495	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:55761495C>G	ENST00000278409.1	-	1	606	c.607G>C	c.(607-609)Gct>Cct	p.A203P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTCACACCAGCCAAAATAGAA	0.463000													6	91					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209195278	209195278	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:209195278G>C	ENST00000264380.4	+	23	3981	c.3823G>C	c.(3823-3825)Gat>Cat	p.D1275H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1275					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CATGTTCTGTGATACCCCCAT	0.448000													21	273					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6593057	6593057	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:6593057C>A	ENST00000254579.6	+	43	14667	c.14103C>A	c.(14101-14103)gaC>gaA	p.D4701E	DNHD1_ENST00000527990.2_Missense_Mutation_p.D4701E	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4701					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCCAGCCGACCTGACTGTGT	0.627000													12	105					0.00010058	0.000110925	1	1	0
ACE	1636	broad.mit.edu	37	17	61571289	61571289	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:61571289A>T	ENST00000577647.1	+	10	1466	c.1421A>T	c.(1420-1422)gAc>gTc	p.D474V	ACE_ENST00000428043.1_Missense_Mutation_p.D1048V|ACE_ENST00000490216.2_Missense_Mutation_p.D474V|ACE_ENST00000290863.6_Missense_Mutation_p.D474V|ACE_ENST00000290866.4_Missense_Mutation_p.D1048V|ACE_ENST00000413513.3_Missense_Mutation_p.D474V|ACE_ENST00000421982.2_Missense_Mutation_p.D294V			P12821	ACE_HUMAN	angiotensin I converting enzyme	1048	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			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)	GCAGAGCATGACATCAACTTT	0.572000													4	64					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66458515	66458515	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:66458515G>A	ENST00000404260.3	+	28	4183	c.3875G>A	c.(3874-3876)aGa>aAa	p.R1292K	MAST4_ENST00000405643.1_Missense_Mutation_p.R1110K|MAST4_ENST00000403625.2_Missense_Mutation_p.R1289K|MAST4_ENST00000261569.7_Missense_Mutation_p.R1095K|MAST4_ENST00000403666.1_Missense_Mutation_p.R1100K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1292	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGCTTGAACAGATCCCTGTCA	0.522000													11	68					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316247	72316247	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:72316247T>G	ENST00000340595.3	+	7	1259	c.1063T>G	c.(1063-1065)Tcc>Gcc	p.S355A	SLC4A4_ENST00000512686.1_Missense_Mutation_p.S355A|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S399A|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S399A|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S399A	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	399						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAGTCTTCCATCCTCTGACAA	0.418000													3	24					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940653	1940653	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:1940653G>A	ENST00000543818.1	+	4	1462	c.620G>A	c.(619-621)cGt>cAt	p.R207H	CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.R207H|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.R207H	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	207	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGTAACCTGCGTGAGTTCAAA	0.602000													13	80					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44876325	44876325	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:44876325T>A	ENST00000374429.2	-	2	151	c.65A>T	c.(64-66)aAg>aTg	p.K22M	CXCL12_ENST00000395795.4_Missense_Mutation_p.K22M|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000374426.2_Missense_Mutation_p.K22M|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395794.2_Missense_Mutation_p.K22M|CXCL12_ENST00000395793.3_Missense_Mutation_p.K22M|CXCL12_ENST00000343575.6_Missense_Mutation_p.K22M	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	22					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	GCTGACGGGCTTCCCTAGAAG	0.493000													8	196					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327851	67327851	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:67327851G>T	ENST00000304372.5	-	12	1869	c.1814C>A	c.(1813-1815)cCt>cAt	p.P605H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	605						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGGCTCTCAGGGTGGCTCCC	0.547000													17	208					0.000566183	0.000613895	1	1	0
SLC38A2	54407	broad.mit.edu	37	12	46756292	46756292	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:46756292T>C	ENST00000256689.5	-	14	1753	c.1309A>G	c.(1309-1311)Atc>Gtc	p.I437V	SLC38A2_ENST00000551374.1_Missense_Mutation_p.I275V	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	437					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAACCAAAGATATCCCTAATA	0.348000													12	52					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3046478	3046478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:3046478G>T	ENST00000520002.1	-	36	6012	c.5457C>A	c.(5455-5457)taC>taA	p.Y1819*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y1819*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1819	CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGGCTCAGGGTAGCCGGGGG	0.468000													3	17					0.004672	0.0049273	1	1	0
IGLV8-61	28774	broad.mit.edu	37	22	22453465	22453465	+	RNA	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:22453465C>T	ENST00000390283.2	+	0	257																											CCAGGCTCCACGCACGCTCAT	0.592000													9	138					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111643869	111643869	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:111643869T>C	ENST00000435970.1	-	28	8836	c.8020A>G	c.(8020-8022)Att>Gtt	p.I2674V	REV3L_ENST00000368805.1_Missense_Mutation_p.I2752V|REV3L_ENST00000358835.3_Missense_Mutation_p.I2752V|REV3L_ENST00000368802.3_Missense_Mutation_p.I2752V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2752					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTGTGAACAATACTATCGCCA	0.363000								DNA polymerases (catalytic subunits)					20	114					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22035640	22035640	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:22035640C>T	ENST00000406385.1	+	7	408	c.348C>T	c.(346-348)atC>atT	p.I116I	PPIL2_ENST00000492445.2_Silent_p.I116I|PPIL2_ENST00000412327.1_Silent_p.I116I|PPIL2_ENST00000456792.2_Silent_p.I95I|PPIL2_ENST00000335025.7_Silent_p.I116I|PPIL2_ENST00000398831.3_Silent_p.I116I			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	116					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ACACCCACATCGTGGCTGTGA	0.597000													7	63					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82843857	82843857	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:82843857C>T	ENST00000265077.3	+	10	10012	c.9447C>T	c.(9445-9447)ttC>ttT	p.F3149F	VCAN_ENST00000502527.2_Silent_p.F408F|VCAN_ENST00000343200.5_Silent_p.F2162F|VCAN_ENST00000512590.2_Silent_p.F1347F|VCAN_ENST00000342785.4_Silent_p.F1395F|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3149	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTAACACATTCAGGTGCCTCT	0.358000													8	56					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327850	67327850	+	Silent	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:67327850A>G	ENST00000304372.5	-	12	1870	c.1815T>C	c.(1813-1815)ccT>ccC	p.P605P		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	605						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGGGCTCTCAGGGTGGCTCC	0.547000													17	205					0	0	1	0	0
FANCL	55120	broad.mit.edu	37	2	58392999	58392999	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:58392999A>G	ENST00000402135.3	-	8	602	c.566T>C	c.(565-567)aTa>aCa	p.I189T	FANCL_ENST00000233741.4_Missense_Mutation_p.I184T|FANCL_ENST00000403295.3_Missense_Mutation_p.I184T|FANCL_ENST00000540646.1_3'UTR|FANCL_ENST00000403676.1_Missense_Mutation_p.I67T	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	184					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						ATAAATGCTTATTAAGGAGCT	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	73					0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27455167	27455167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:27455167G>A	ENST00000262244.5	-	2	806	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	128							metal ion binding|protein binding										TTGTTGATCTGAACCTCAATC	0.423000													9	84					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231943413	231943413	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:231943413T>C	ENST00000308696.6	+	10	1274	c.1112T>C	c.(1111-1113)aTa>aCa	p.I371T	PSMD1_ENST00000409643.1_Missense_Mutation_p.I371T|PSMD1_ENST00000373635.4_Missense_Mutation_p.I371T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	371					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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 protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCAACCGTTATAGCAAACTCT	0.358000													14	69					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36934613	36934613	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:36934613C>A	ENST00000310758.4	-	17	2094	c.1447G>T	c.(1447-1449)Gtg>Ttg	p.V483L	ELMO1_ENST00000396045.3_Missense_Mutation_p.V3L|ELMO1_ENST00000396040.2_Missense_Mutation_p.V3L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V483L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V483L|ELMO1_ENST00000341056.3_Missense_Mutation_p.V185L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	483	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCTTCACCACCTGCATTACC	0.498000													5	65					0.014758	0.0152315	1	1	0
STX11	8676	broad.mit.edu	37	6	144507870	144507870	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:144507870G>A	ENST00000367568.4	+	2	289	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	36					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CATCGTGTTCGAGACGGACCA	0.567000									Familial Hemophagocytic Lymphohistiocytosis				6	47					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101476833	101476833	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:101476833G>A	ENST00000341893.3	+	9	2135	c.1383G>A	c.(1381-1383)gaG>gaA	p.E461E	CEP97_ENST00000494050.1_Silent_p.E402E|CEP97_ENST00000327230.4_Silent_p.E461E			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	461	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGCAAATGAGAATTCTGTTC	0.423000													8	47					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971752	101971752	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:101971752C>A	ENST00000543253.1	+	5	2874	c.1955C>A	c.(1954-1956)tCt>tAt	p.S652Y	GPRASP2_ENST00000535209.1_Missense_Mutation_p.S652Y|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S652Y	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TATCCATCCTCTAGAGTTAGG	0.368000													4	48					0.00909568	0.00954058	1	1	0
C6orf62	81688	broad.mit.edu	37	6	24716392	24716392	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:24716392T>C	ENST00000378119.4	-	2	2457	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	C6orf62_ENST00000540769.1_Missense_Mutation_p.Y39C|C6orf62_ENST00000378102.3_Missense_Mutation_p.Y68C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	97						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CATAGACTGATATCGAGGAGC	0.453000													14	66					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175097823	175097823	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:175097823G>A	ENST00000239462.4	+	15	3384	c.3271G>A	c.(3271-3273)Gat>Aat	p.D1091N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1091	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGCATGGCGATGCCAGCCG	0.602000													9	83					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63113907	63113907	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:63113907G>A	ENST00000251157.5	-	6	635	c.602C>T	c.(601-603)tCa>tTa	p.S201L	DOCK7_ENST00000340370.5_Missense_Mutation_p.S201L|DOCK7_ENST00000404627.2_Missense_Mutation_p.S201L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	201					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.S201L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATCAGGAAGTGAATTTTTCAA	0.393000													7	73					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986483	11986483	+	RNA	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:11986483C>G	ENST00000434078.2	+	0	608					NR_027425.1																						CCCAGGACAGCATGTAGTTGG	0.557000													5	40					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74949788	74949788	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:74949788T>C	ENST00000262144.6	-	13	1334	c.1204A>G	c.(1204-1206)Atc>Gtc	p.I402V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	402	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ACATTCCGGATTTGCACATTG	0.448000													12	84					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859811	6859811	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:6859811A>G	ENST00000419673.2	+	4	381	c.164A>G	c.(163-165)gAt>gGt	p.D55G	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D55G|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D162G|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D55G|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D214G|ARHGAP28_ENST00000531294.1_Splice_Site_p.N50_splice|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.D214G|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D37G	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATTTAGCCAGATGATGCTTCT	0.423000													9	128					0	0	1	0	0
RARRES2	5919	broad.mit.edu	37	7	150037234	150037234	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:150037234C>T	ENST00000466675.1	-	2	1267	c.234G>A	c.(232-234)cgG>cgA	p.R78R	RARRES2_ENST00000223271.3_Silent_p.R78R|RARRES2_ENST00000482669.1_Silent_p.R78R			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	78					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGTCCCTCTTCCGGCAGCTTG	0.582000													41	488					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110385355	110385355	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:110385355G>A	ENST00000519681.1	+	6	649	c.207G>A	c.(205-207)gaG>gaA	p.E69E	PAK3_ENST00000417227.1_Silent_p.E69E|PAK3_ENST00000372007.4_Silent_p.E69E|PAK3_ENST00000360648.4_Silent_p.E69E|PAK3_ENST00000262836.4_Silent_p.E69E|PAK3_ENST00000518291.1_Silent_p.E69E|PAK3_ENST00000446737.1_Silent_p.E69E|PAK3_ENST00000372010.1_Silent_p.E69E|PAK3_ENST00000425146.1_Silent_p.E69E			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	69	Autoregulatory region (By similarity).|GTPase-binding (By similarity).				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGCGCCCAGAGATCTCTCTTC	0.408000										TSP Lung(19;0.15)			23	63					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68669856	68669856	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:68669856C>T	ENST00000509734.1	+	4	920	c.242C>T	c.(241-243)tCa>tTa	p.S81L	RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.S81L|RAD17_ENST00000361732.2_Missense_Mutation_p.S70L|RAD17_ENST00000354868.5_Missense_Mutation_p.S70L|RAD17_ENST00000354312.3_Missense_Mutation_p.S70L|RAD17_ENST00000345306.6_Missense_Mutation_p.S70L|RAD17_ENST00000305138.4_Missense_Mutation_p.S70L|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000358030.2_5'UTR			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	81					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTAGAAAATTCAAAAGAATAT	0.328000								Other conserved DNA damage response genes					5	51					0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45797745	45797745	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:45797745T>A	ENST00000450313.1	-	11	1162	c.947A>T	c.(946-948)cAg>cTg	p.Q316L	MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.Q288L|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.Q289L|MUTYH_ENST00000448481.1_Missense_Mutation_p.Q299L|MUTYH_ENST00000372098.3_Missense_Mutation_p.Q313L|MUTYH_ENST00000372100.5_Missense_Mutation_p.Q299L|MUTYH_ENST00000372104.1_Missense_Mutation_p.Q288L|MUTYH_ENST00000372115.3_Missense_Mutation_p.Q302L|MUTYH_ENST00000355498.2_Missense_Mutation_p.Q288L|MUTYH_ENST00000372110.3_Missense_Mutation_p.Q303L|MUTYH_ENST00000531105.1_Intron	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	313					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCTAAGAGCTGTTCCTGCTC	0.597000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				8	80					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117122188	117122188	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:117122188G>A	ENST00000369486.3	-	10	3925	c.3160C>T	c.(3160-3162)Cgc>Tgc	p.R1054C	IGSF3_ENST00000369483.1_Missense_Mutation_p.R1074C|IGSF3_ENST00000318837.6_Missense_Mutation_p.R1074C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1054	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCTGGAAGCGAAGCCTGCCC	0.647000													11	49					0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43333735	43333735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:43333735C>T	ENST00000378852.3	+	1	183	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	API5_ENST00000534695.1_Nonsense_Mutation_p.Q20*|API5_ENST00000455725.2_5'UTR|API5_ENST00000420461.2_Nonsense_Mutation_p.Q20*|API5_ENST00000534600.1_Nonsense_Mutation_p.Q20*|API5_ENST00000531273.1_Nonsense_Mutation_p.Q20*	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	20					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TGCCACGGAGCAAGTGGGCCA	0.677000											OREG0020900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	31					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211472	37211472	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:37211472C>T	ENST00000585696.1	+	3	2983	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.P585S|ZNF567_ENST00000392163.2_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.P616S			Q8N184	ZN567_HUMAN	zinc finger protein 567	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGGTGAGAAACCCTATGTTTG	0.373000													5	33					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720490	95720490	+	RNA	SNP	C	C	T	rs12570608	by1000genomes	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:95720490C>T	ENST00000480546.1	-	0	807					NR_002319.2																						AGAGGCTTCTCTCGCTCTTTC	0.453000													4	65					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10446477	10446477	+	Splice_Site	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:10446477C>A	ENST00000245503.5	-	9	1127	c.741_splice	c.e9-1	p.G248_splice	MYH2_ENST00000532183.1_Splice_Site_p.G248_splice|MYH2_ENST00000397183.2_Splice_Site_p.G248_splice|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	248	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GATGAATTTACCCTTGAAATA	0.274000													6	70					0.0293803	0.0300021	1	1	0
PEX5L	51555	broad.mit.edu	37	3	179526100	179526100	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:179526100G>A	ENST00000467460.1	-	13	1808	c.1478C>T	c.(1477-1479)gCa>gTa	p.A493V	PEX5L_ENST00000465751.1_Missense_Mutation_p.A469V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A385V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A385V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A458V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A491V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A301V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A450V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A434V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	493					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCATCTATTGCTCTATTAAA	0.453000													5	55					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777600	18777600	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:18777600C>A	ENST00000380548.4	+	19	3712	c.3373C>A	c.(3373-3375)Cgc>Agc	p.R1125S		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1125						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCCCTCGGAGCGCAGGACTTC	0.667000													4	23					1	1	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25457043	25457043	+	RNA	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:25457043G>A	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGAGAAATTTGGAGGAGGATG	0.507000													23	183					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676215	123676215	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:123676215G>A	ENST00000309154.2	-	1	880	c.843C>T	c.(841-843)ctC>ctT	p.L281L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AAGGGTTCAGGAGAGGGGTCA	0.473000													17	83					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75891820	75891820	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:75891820T>C	ENST00000321027.3	-	17	2451	c.2318A>G	c.(2317-2319)cAt>cGt	p.H773R	MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.H735R|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	773					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TGATTTAAGATGGTCTAGGTG	0.303000													4	22					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762006	96762006	+	Silent	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:96762006A>T	ENST00000295266.4	+	1	768	c.705A>T	c.(703-705)gcA>gcT	p.A235A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	235					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGAGAGCAGCAGCCAGCCCTG	0.433000													8	81					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112997128	112997128	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:112997128G>A	ENST00000271277.6	+	5	613	c.388G>A	c.(388-390)Gat>Aat	p.D130N		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	130						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTGAAGGAGATGATGTCAC	0.418000													29	100					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745220	84745220	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:84745220C>T	ENST00000372142.2	+	11	1633	c.1359C>T	c.(1357-1359)taC>taT	p.Y453Y	NRG3_ENST00000537893.1_Silent_p.Y300Y|NRG3_ENST00000404547.1_Silent_p.Y674Y|NRG3_ENST00000545131.1_Silent_p.Y300Y|NRG3_ENST00000404576.2_Silent_p.Y454Y|NRG3_ENST00000372141.2_Silent_p.Y650Y|NRG3_ENST00000556918.1_Silent_p.Y480Y	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	674					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.Y453Y(1)|p.Y650Y(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAGAAGACTACGAACTGGCCA	0.488000													11	56					0	0	1	0	0
MAPK11	5600	broad.mit.edu	37	22	50704717	50704717	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:50704717G>A	ENST00000330651.6	-	9	800	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	MAPK11_ENST00000449719.2_3'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	234	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCATGATGCGCTTCAGCTGG	0.612000													3	16					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185823132	185823132	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:185823132T>A	ENST00000306376.5	-	5	440	c.194A>T	c.(193-195)gAt>gTt	p.D65V	ETV5_ENST00000434744.1_Missense_Mutation_p.D65V|ETV5_ENST00000537818.1_Missense_Mutation_p.D107V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	65					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CTGTTCATCATCAGGAACTTG	0.328000			T	"""TMPRSS2, SCL45A3"""	Prostate								21	61					0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131812999	131812999	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:131812999C>T	ENST00000409185.1	-	5	428	c.321G>A	c.(319-321)ccG>ccA	p.P107P	FAM168B_ENST00000389915.3_Silent_p.P107P	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	107										endometrium(3)|lung(2)	5						CTGCATACAGCGGCTGTGTGT	0.612000													13	125					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9991651	9991651	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:9991651G>A	ENST00000412055.1	-	2	278	c.149C>T	c.(148-150)tCt>tTt	p.S50F	PRRT3_ENST00000411976.2_Missense_Mutation_p.S50F|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	50						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGAGCCCACAGAGCCCTTGGG	0.627000													5	64					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906285	129906285	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:129906285G>A	ENST00000368654.3	-	13	4194	c.3819C>T	c.(3817-3819)atC>atT	p.I1273I	MKI67_ENST00000368653.3_Silent_p.I913I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1273	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)				CTGCTTTCCTGATACTTCTCT	0.498000													32	161					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734222	26734222	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:26734222C>A	ENST00000396005.3	-	2	680	c.371G>T	c.(370-372)cGc>cTc	p.R124L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	124					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GGCAGCATAGCGAACTGGTTT	0.398000													11	242					5.50884e-06	6.21758e-06	1	1	0
TRIM42	287015	broad.mit.edu	37	3	140401726	140401726	+	Missense_Mutation	SNP	G	G	A	rs146006015		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:140401726G>A	ENST00000286349.3	+	2	955	c.764G>A	c.(763-765)cGc>cAc	p.R255H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	255						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCACCTGCCGCCTCAACCTG	0.617000													9	71					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256720	140256720	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140256720G>A	ENST00000398631.2	+	1	1663	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.701000													12	177					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7636499	7636499	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:7636499G>A	ENST00000572933.1	+	5	1954	c.494G>A	c.(493-495)gGc>gAc	p.G165D	DNAH2_ENST00000082259.3_Missense_Mutation_p.G165D|DNAH2_ENST00000389173.2_Missense_Mutation_p.G165D|DNAH2_ENST00000570791.1_Missense_Mutation_p.G165D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	165	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGGTGCGGGGCCCCTATATC	0.552000													23	113					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108373044	108373044	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:108373044C>T	ENST00000361582.3	+	19	2316	c.2086C>T	c.(2086-2088)Cac>Tac	p.H696Y	DZIP3_ENST00000463306.1_Missense_Mutation_p.H696Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	696					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGCAAATCCACACTCAGTCAG	0.378000													14	91					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	621408	621408	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:621408C>T	ENST00000358353.3	-	7	877	c.555G>A	c.(553-555)ctG>ctA	p.L185L	CDHR5_ENST00000349570.7_Silent_p.L185L|CDHR5_ENST00000397542.2_Silent_p.L185L			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	185	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTCCAGCCTCAGGGCGGGAC	0.657000													10	64					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92407324	92407324	+	Nonstop_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:92407324G>C	ENST00000276609.3	+	19	2209	c.1970G>C	c.(1969-1971)tGa>tCa	p.*657S	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Nonstop_Mutation_p.*657S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	0						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTGAAGTCTGAGACCCTTTT	0.398000													25	209					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25479735	25479735	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr13:25479735C>T	ENST00000381884.4	-	7	2626	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E	CENPJ_ENST00000545981.1_Missense_Mutation_p.G814E	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	814					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGATTCATTCCCAAGAACAAC	0.408000													9	127					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146136	31146136	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:31146136G>C	ENST00000304166.4	+	16	1534	c.1245G>C	c.(1243-1245)tgG>tgC	p.W415C	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.W471C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.W394C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.W443C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	415					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGCGAAAATGGCGAAGCTGGA	0.607000													8	73					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66987079	66987079	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:66987079C>G	ENST00000340001.4	-	29	3947	c.3736G>C	c.(3736-3738)Gct>Cct	p.A1246P	ABCA9_ENST00000453985.2_Missense_Mutation_p.A1208P|ABCA9_ENST00000370732.2_Missense_Mutation_p.A1246P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1246					transport	integral to membrane	ATP binding|ATPase activity	p.A1246T(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGAAAAATAGCGTTGCTTCTT	0.368000													6	44					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269576	53269576	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:53269576G>C	ENST00000338230.3	-	3	1700	c.1433C>G	c.(1432-1434)gCt>gGt	p.A478G		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACACGCAAAAGCCTTGTCACA	0.408000													16	196					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100341898	100341898	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:100341898G>C	ENST00000437033.2	-	6	1120	c.617C>G	c.(616-618)tCa>tGa	p.S206*	ADH7_ENST00000209665.4_Nonsense_Mutation_p.S218*|ADH7_ENST00000482593.1_Nonsense_Mutation_p.S149*|ADH7_ENST00000476959.1_Nonsense_Mutation_p.S226*			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	218					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CATGATGACTGACAGGCCAAC	0.493000													7	77					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	390850	390850	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:390850G>T	ENST00000280886.6	-	28	3439	c.3352C>A	c.(3352-3354)Cca>Aca	p.P1118T		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1118						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCTTCTTTGGCAAATCATCT	0.527000													3	7					0.004672	0.0049273	1	1	0
TLR4	7099	broad.mit.edu	37	9	120475703	120475703	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:120475703A>C	ENST00000355622.6	+	3	1398	c.1297A>C	c.(1297-1299)Aat>Cat	p.N433H	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.N393H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	433					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCAGCATTCCAATTTGAAACA	0.373000													13	72					0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9725447	9725447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:9725447C>A	ENST00000381844.4	-	5	869	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Nonsense_Mutation_p.E236*			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	236					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GCATCACATTCTTCTCCTGCA	0.368000													5	64					0.014758	0.0152315	1	1	0
RPLP0	6175	broad.mit.edu	37	12	120636428	120636428	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:120636428C>T	ENST00000551150.1	-	5	895	c.580G>A	c.(580-582)Gac>Aac	p.D194N	RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000546989.1_Missense_Mutation_p.D158N|RPLP0_ENST00000392514.4_Missense_Mutation_p.D194N|RPLP0_ENST00000228306.4_Missense_Mutation_p.D194N			P05388	RLA0_HUMAN	ribosomal protein, large, P0	194					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCATTGTCGAACACCTGC	0.527000													9	87					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193082032	193082032	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:193082032G>A	ENST00000342358.4	-	2	218	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	34					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGGCAGAAGGCTTTCCGTAC	0.483000													12	252					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380410	147380410	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:147380410G>A	ENST00000240986.4	+	2	381	c.328G>A	c.(328-330)Gag>Aag	p.E110K	GJA8_ENST00000369235.1_Missense_Mutation_p.E110K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	110				EA -> D (in Ref. 1; AAA77062).	cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CAAAAGCCGCGAGGCGGAGGA	0.652000													16	65					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324827	9324827	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:9324827G>A	ENST00000308682.2	-	1	715	c.687C>T	c.(685-687)tcC>tcT	p.S229S		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCTTGGTGGAGGACATTCCCA	0.502000													4	69					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92406215	92406215	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:92406215C>G	ENST00000276609.3	+	18	2122	c.1883C>G	c.(1882-1884)cCa>cGa	p.P628R	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.P628R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P628R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	628	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCAGAGAAACCAATTTTTTTT	0.338000													6	57					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185370	127185370	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:127185370G>C	ENST00000371124.3	-	1	1012	c.816C>G	c.(814-816)agC>agG	p.S272R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	272						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGAGTCCTGGGCTGTGGATGC	0.512000													12	104					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211471660	211471660	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:211471660C>T	ENST00000233072.5	+	18	2383	c.2187C>T	c.(2185-2187)gcC>gcT	p.A729A	CPS1_ENST00000430249.2_Silent_p.A735A|CPS1_ENST00000451903.2_Silent_p.A278A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	729	ATP-grasp 1.			A -> T (in Ref. 1; BAA14328).	carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCTCAAAAGCCACTGGGTAAG	0.418000													4	51					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481867	140481867	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140481867C>T	ENST00000231130.2	+	1	1634	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		545	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGCGAGGCGCTGGTGCGC	0.697000													14	105					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71501407	71501407	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:71501407G>C	ENST00000370455.3	+	5	678	c.430G>C	c.(430-432)Gct>Cct	p.A144P	SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	144					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CTCCTCTGATGCTCCTCTTCA	0.403000													17	109					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579540	55579540	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:55579540T>A	ENST00000333973.2	+	1	687	c.598T>A	c.(598-600)Ttc>Atc	p.F200I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GACACTGCTGTTCCTGGTGGC	0.458000													24	193					0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134472060	134472060	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:134472060C>T	ENST00000319914.5	-	9	1997	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.V324M|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.V324M|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.V324M			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	324					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GTGGCCGTCACGTTAGACTCA	0.562000													18	196					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73790923	73790923	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:73790923G>T	ENST00000223398.6	+	10	2519	c.2192G>T	c.(2191-2193)cGt>cTt	p.R731L	CLIP2_ENST00000395060.1_Missense_Mutation_p.R731L|CLIP2_ENST00000361545.5_Missense_Mutation_p.R696L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	731						microtubule associated complex		p.R696H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCCGAGCTGCGTGTGCACGAG	0.667000													7	18					0.0293803	0.0300021	1	1	0
TNIP1	10318	broad.mit.edu	37	5	150422486	150422486	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:150422486G>A	ENST00000389378.2	-	10	1561	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	325	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGGACCGGAAATGCTGG	0.552000													62	284					0	0	1	0	0
MSX1	4487	broad.mit.edu	37	4	4864658	4864658	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:4864658delG	ENST00000382723.4	+	2	934	c.700delG	c.(700-702)agfs	p.E234fs	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	228					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACAAGAGGCAGAGCTGGAGAA	0.657													8	58	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187542091	187542092	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:187542091_187542092insA	ENST00000441802.2	-	10	5857_5858	c.5648_5649insT	c.(5647-5649)ttafs	p.L1883fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1883	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGCTTCATATAATGGCTTGGC	0.396										HNSCC(5;0.00058)			7	60	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													2	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs71973809		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													4	2	---	---	---	---					
CYB5R2	51700	broad.mit.edu	37	11	7690521	7690522	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:7690521_7690522insT	ENST00000533558.1	-	5	858_859	c.302_303insA	c.(301-303)aatfs	p.N101fs	CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000528585.1_5'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	101	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTGAGTCATCTTCCCACCTTC	0.480													19	119	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57605075	57605075	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:57605075delA	ENST00000243077.3	+	84	13499	c.13033delA	c.(13033-13035)gcfs	p.S4345fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4345	EGF-like 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAACAAGTGCAGCCGCTGTCT	0.602													13	66	---	---	---	---					
THEG	51298	broad.mit.edu	37	19	362245	362246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:362245_362246insG	ENST00000342640.4	-	8	1136_1137	c.1094_1095insC	c.(1093-1095)caafs	p.Q365fs	THEG_ENST00000346878.2_Frame_Shift_Ins_p.Q341fs	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	365					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)		GTGATGCTTTTGGGGGTGGCAA	0.584													13	141	---	---	---	---					
