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
MX1	4599	broad.mit.edu	37	21	42821112	42821112	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr21:42821112G>A	uc010goq.3	+	11	1668	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	MX1_uc002yzh.3_Missense_Mutation_p.R441H|MX1_uc002yzi.3_Missense_Mutation_p.R441H	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	441					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AATCAGTATCGTGGTAGAGAG	0.378000													9	57					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54185950	54185950	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:54185950A>G	uc004dsz.4	-	1	882	c.799T>C	c.(799-801)Tac>Cac	p.Y267H	FAM120C_uc011moh.2_Missense_Mutation_p.Y267H	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	267										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAATATTGTAGAGAGCATAC	0.483000													3	45					0	0	1	0	0
DNM1P34	729809	broad.mit.edu	37	15	75594836	75594836	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr15:75594836A>G	uc002azx.1	-	0	471	c.221T>C	c.(220-222)aTc>aCc	p.I74T						RecName: Full=Putative GED domain-containing protein DNM1P34; AltName: Full=DNM1 pseudogene 34;																		GAGGTGCATGATGGTCTTGGG	0.592000													3	49					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	24011409	24011409	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:24011409T>C	uc002rek.4	-	19	3045	c.2749A>G	c.(2749-2751)Atg>Gtg	p.M917V	ATAD2B_uc002rei.4_Missense_Mutation_p.M917V|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_Missense_Mutation_p.M85V	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	917							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGCCATTGATGCCTGA	0.363000													12	48					0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167673770	167673770	+	Silent	SNP	C	C	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:167673770C>A	uc010jjd.3	+	26	5799	c.5799C>A	c.(5797-5799)gtC>gtA	p.V1933V	ODZ2_uc003lzr.4_Silent_p.V1703V|ODZ2_uc003lzt.4_Silent_p.V1306V|ODZ2_uc010jje.3_Silent_p.V1197V	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGTCCATGGTCCTCCTGCTTC	0.502000													95	334					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118790379	118790379	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:118790379G>A	uc003pya.2	-	12	2186	c.2119C>T	c.(2119-2121)Cgg>Tgg	p.R707W	CEP85L_uc003pxz.2_Missense_Mutation_p.R704W	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	704						centrosome											AATAGTGGCCGTTTGGAAAGA	0.418000													12	170					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19379456	19379456	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:19379456G>A	uc002nmd.1	-	5	642	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	HAPLN4_uc002nmc.3_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	198						integral to membrane		p.R198H(2)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GCGGTGCAGCGGGTTAGCGCC	0.577000													4	53					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26899663	26899663	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:26899663G>A	uc003acr.2	-	5	991	c.617C>T	c.(616-618)cCt>cTt	p.P206L	TFIP11_uc003acs.2_Missense_Mutation_p.P206L|TFIP11_uc003act.2_Missense_Mutation_p.P206L	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	206					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTCAACCACAGGGAAGTCTTG	0.493000													28	61					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39550306	39550306	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr17:39550306G>A	uc002hwn.3	-	6	1266	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	KRT31_uc010cxn.3_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	405	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.R405H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CAGCGGGGGCGTGGGGCACAG	0.642000													6	67					0	0	1	0	0
KDELR3	11015	broad.mit.edu	37	22	38877382	38877382	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:38877382G>A	uc003avu.3	+	3	673	c.517G>A	c.(517-519)Gag>Aag	p.E173K	KDELR3_uc003avv.3_Missense_Mutation_p.E173K	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	173					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GTACCAGACTGAGAATTTCTA	0.478000													3	106					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53647321	53647321	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:53647321G>C	uc001sch.2	+	1	1170	c.1023G>C	c.(1021-1023)agG>agC	p.R341S	MFSD5_uc001sci.2_Missense_Mutation_p.R234S|MFSD5_uc021qye.1_Missense_Mutation_p.R234S	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	234					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTTCTCAAGGACCTGTGCTG	0.602000													12	74					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195699	3195699	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr17:3195699T>C	uc002fvh.1	-	0	178	c.178A>G	c.(178-180)Acc>Gcc	p.T60A		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TACATGGGGGTGTGGAGTTTG	0.562000													3	42					0	0	1	0	0
IFNA4	3441	broad.mit.edu	37	9	21186979	21186979	+	Silent	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr9:21186979T>C	uc003zon.2	-	0	620	c.552A>G	c.(550-552)agA>agG	p.R184R		NM_021068	NP_066546	P05014	IFNA4_HUMAN	Homo sapiens interferon, alpha 4 (IFNA4), mRNA.	184					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCTCCTTAATCTTTTTTGCA	0.388000													7	197					0	0	1	0	0
RPL10A	4736	broad.mit.edu	37	6	35438057	35438057	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:35438057C>T	uc003okp.1	+	4	446	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	RPL10A_uc003oks.1_Missense_Mutation_p.L54F	NM_007104	NP_009035	P62906	RL10A_HUMAN	Homo sapiens ribosomal protein L10a (RPL10A), mRNA.	138					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						CCCTTCCCTGCTCACACACAA	0.488000													7	28					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209142388	209142388	+	Missense_Mutation	SNP	G	G	C	rs112183241		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:209142388G>C	uc002vcz.3	+	4	727	c.569G>C	c.(568-570)cGt>cCt	p.R190P	PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Missense_Mutation_p.R190P|PIKFYVE_uc002vcw.3_Missense_Mutation_p.R190P|PIKFYVE_uc002vcv.3_Intron|PIKFYVE_uc002vcx.3_Intron	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	190					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						TTCTGCAGTCGTTGCTGTAAT	0.383000													4	129					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435785	179435785	+	Missense_Mutation	SNP	A	A	C	rs3731743		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:179435785A>C	uc021vsy.1	-	274	67595	c.67370T>G	c.(67369-67371)cTt>cGt	p.L22457R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L16152R|TTN_uc021vta.1_Missense_Mutation_p.L16085R|TTN_uc021vtb.1_Missense_Mutation_p.L15960R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23384	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S22456L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCACTGAAGAGTCACAGA	0.468000													3	170					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133844247	133844247	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:133844247C>T	uc011ecs.2	+	17	2004	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	EYA4_uc011ecq.2_Missense_Mutation_p.A503V|EYA4_uc011ecr.2_Missense_Mutation_p.A509V|EYA4_uc003qec.4_Missense_Mutation_p.A557V|EYA4_uc003qed.4_Missense_Mutation_p.A557V|EYA4_uc003qee.4_Missense_Mutation_p.A534V|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	557					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCAGCACTTGCGAAGGTTCTA	0.338000													13	90					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156647011	156647011	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:156647011T>C	uc001fpq.3	-	0	179	c.46A>G	c.(46-48)Aat>Gat	p.N16D		NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	16	Coil 1A.|Rod.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCGCCGATTGAGCTCCCAC	0.672000													5	28					0	0	1	0	0
CLEC7A	64581	broad.mit.edu	37	12	10271128	10271128	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:10271128C>T	uc001qxg.2	-	5	860	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.V179M|CLEC7A_uc001qxh.2_Missense_Mutation_p.R139H|CLEC7A_uc001qxi.2_Missense_Mutation_p.R185H|CLEC7A_uc001qxj.2_Missense_Mutation_p.V146M|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Non-coding_Transcript	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.	225	C-type lectin.				T cell activation|carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition	cytoplasm|integral to membrane	MHC protein binding|metal ion binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						ATGACTGACACGTGAATCCAT	0.378000													11	112					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115971690	115971690	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr10:115971690T>C	uc001lbg.1	+	13	1879	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H	TDRD1_uc001lbf.3_Intron|TDRD1_uc001lbh.1_Missense_Mutation_p.Y567H|TDRD1_uc001lbi.1_Missense_Mutation_p.Y567H|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.Y285H	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	576	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACTGGTCGGATATGTAGATTA	0.393000													5	81					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:37028425A>G	uc004ddl.2	+	0	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	648								p.N648D(11)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	78					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109834250	109834250	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:109834250C>G	uc010sxn.1	+	2	304	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCATTTCATCCTCATTTCTGG	0.458000													4	40					0	0	1	0	0
GPM6B	2824	broad.mit.edu	37	X	13798050	13798050	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:13798050G>A	uc004cvw.3	-	4	875	c.584C>T	c.(583-585)gCg>gTg	p.A195V	GPM6B_uc004cvx.3_Missense_Mutation_p.A136V|GPM6B_uc011min.1_Missense_Mutation_p.A69V|GPM6B_uc004cwa.2_Missense_Mutation_p.A136V|GPM6B_uc011mim.2_Missense_Mutation_p.A169V|GPM6B_uc004cvy.2_Missense_Mutation_p.A195V|GPM6B_uc004cvz.2_Missense_Mutation_p.A155V	NM_001001995	NP_001001995	Q13491	GPM6B_HUMAN	Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA.	155					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CACGGGCACCGCTGAGAAACC	0.502000													3	95					0	0	1	0	0
AK023304	0	broad.mit.edu	37	19	12318166	12318166	+	RNA	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:12318166A>G	uc002mtj.2	+	1		c.149A>G			AK023304_uc010dyq.2_Intron					Homo sapiens cDNA FLJ13242 fis, clone OVARC1000578.																		GCCTTTGAGGATGTGGCAGTG	0.463000													14	54					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70349255	70349255	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:70349255G>C	uc004dyy.3	+	25	3866	c.3667G>C	c.(3667-3669)Gtt>Ctt	p.V1223L	MED12_uc011mpq.1_Missense_Mutation_p.V1223L|MED12_uc004dyz.3_Missense_Mutation_p.V1223L|MED12_uc004dza.3_Missense_Mutation_p.V1070L|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1223					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.V1223>?(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGTGTTTGCTGTTCTCAAGGC	0.572000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	20					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97269341	97269341	+	Splice_Site	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr8:97269341T>C	uc003yhs.1	-	3	413	c.335_splice	c.e3-1	p.E112_splice	MTERFD1_uc003yhr.1_5'UTR|MTERFD1_uc010mbd.1_Splice_Site_p.E112_splice	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	112					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ATTCATCCAGTTCTTTGAAAG	0.408000													4	77					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394235	64394235	+	Silent	SNP	C	C	T	rs79636606	byFrequency	TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:64394235C>T	uc003pep.1	+	2	637	c.612C>T	c.(610-612)agC>agT	p.S204S	PHF3_uc010kaf.1_Silent_p.S204S|PHF3_uc003pem.2_Silent_p.S157S|PHF3_uc010kag.1_Silent_p.S116S|PHF3_uc010kah.1_Silent_p.S18S|PHF3_uc003pen.2_Silent_p.S116S|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Silent_p.S204S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	204					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.S204N(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCCGAAATAGCGGACAAATTG	0.403000													4	82					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161020597	161020597	+	Silent	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:161020597A>G	uc003qtl.3	-	20	3342	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3582	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGCTTGGCAAGTTCTTCCTG	0.498000													5	516					0	0	1	0	0
TIFA	92610	broad.mit.edu	37	4	113199473	113199473	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr4:113199473T>C	uc003ial.3	-	1	382	c.100A>G	c.(100-102)Ata>Gta	p.I34V	TIFA_uc021xqt.1_Missense_Mutation_p.I34V	NM_052864	NP_443096	Q96CG3	TIFA_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain (TIFA), mRNA.	34							protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TTAAAACTTATTGACTGAAAT	0.428000													46	121					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135314292	135314292	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:135314292G>T	uc004ezt.3	-	7	1045	c.824C>A	c.(823-825)cCc>cAc	p.P275H	MAP7D3_uc004ezs.3_Missense_Mutation_p.P240H|MAP7D3_uc011mwc.2_Missense_Mutation_p.P257H|MAP7D3_uc010nsa.2_Intron	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	275						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGTCGACATGGGAAACATAAC	0.463000													3	109					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67266040	67266040	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr16:67266040C>T	uc002esl.3	-	13	2216	c.2104G>A	c.(2104-2106)Gcc>Acc	p.A702T	FHOD1_uc010ced.3_Missense_Mutation_p.A509T	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	702	FH2.|Interaction with ROCK1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATGTTGATGGCGTTGCTGCGC	0.562000													6	74					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226847	158226847	+	Silent	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:158226847C>T	uc001frt.3	+	3	1409	c.876C>T	c.(874-876)ctC>ctT	p.L292L	CD1A_uc021pbk.1_Non-coding_Transcript	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	292					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		p.V291V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCGTCCTCTACTGGGGTG	0.567000													5	60					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536384	64536384	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:64536384A>G	uc010ssp.1	+	21	3246	c.3190A>G	c.(3190-3192)Aaa>Gaa	p.K1064E	SRGAP1_uc001srv.2_Missense_Mutation_p.K1001E	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	1064					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTTCTTCCAAAAACAAATCC	0.522000													4	90					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36553404	36553404	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:36553404G>A	uc001bzr.3	+	8	1202	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	TEKT2_uc001bzs.3_Missense_Mutation_p.A265T|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	359					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGGCGCAAGCACAGTAGGT	0.632000													4	31					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr11:68216515T>C	uc001ont.3	+	22	4900	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_uc009ysg.3_Missense_Mutation_p.S1019P	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1609	Pro-rich.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582000													3	129					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:84628811C>T	uc003uic.3	-	16	2319	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_uc010led.3_Missense_Mutation_p.R760Q|SEMA3D_uc003uib.3_Missense_Mutation_p.R399Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453000													15	45					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62478078	62478078	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:62478078G>A	uc003dll.2	-	19	3131	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CADPS_uc003dlk.1_Missense_Mutation_p.T421M|CADPS_uc003dlm.2_Missense_Mutation_p.T934M|CADPS_uc003dln.2_Missense_Mutation_p.T894M|CADPS_uc021wzv.1_Missense_Mutation_p.T964M	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	924	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.T934M(1)|p.T924M(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGACAGGAACGTCTCCGCATG	0.448000													7	510					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291368	103291368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr8:103291368G>A	uc003ykr.2	-	42	6525	c.6070C>T	c.(6070-6072)Cga>Tga	p.R2024*	UBR5_uc003yks.2_Nonsense_Mutation_p.R2024*	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2024					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.F2023F(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTGAACGTCGGAAAAATGGA	0.423000													10	107					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100497211	100497211	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:100497211C>T	uc003dun.3	-	25	2202	c.2117G>A	c.(2116-2118)cGc>cAc	p.R706H	ABI3BP_uc003duj.3_Missense_Mutation_p.R286H|ABI3BP_uc003duk.3_Missense_Mutation_p.R415H|ABI3BP_uc003dul.3_Missense_Mutation_p.R536H|ABI3BP_uc011bhd.2_Missense_Mutation_p.R660H|ABI3BP_uc003dum.3_Missense_Mutation_p.R117H	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	706	Pro-rich.					extracellular space		p.R706C(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAAGGGTGGGCGGCGAGTCCC	0.403000													6	33					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582742	51582742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:51582742G>A	uc021uyk.1	-	4	697	c.478C>T	c.(478-480)Cga>Tga	p.R160*	KLK14_uc002pvs.1_Nonsense_Mutation_p.R160*	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	160	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCTGACACTCGGCAGGAGGTC	0.662000													4	42					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18763990	18763990	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr11:18763990G>A	uc001mpd.3	-	6	975	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	PTPN5_uc001mpb.3_Missense_Mutation_p.R150C|PTPN5_uc001mpc.3_Missense_Mutation_p.R182C|PTPN5_uc010rdj.2_Missense_Mutation_p.R126C|PTPN5_uc001mpf.3_Missense_Mutation_p.R158C|PTPN5_uc001mpe.3_Missense_Mutation_p.R150C|PTPN5_uc010rdk.2_Missense_Mutation_p.R127C	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	182						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ACTGACTGGCGCCTGTCCTCA	0.632000													8	63					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27472797	27472798	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:27472797_27472798delAA	uc011aww.2	-	6	1362_1363	c.1141_1142delTT	c.(1141-1143)ttafs	p.L381fs	SLC4A7_uc011awx.2_Frame_Shift_Del_p.L368fs|SLC4A7_uc021wun.1_Intron|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Frame_Shift_Del_p.L364fs|SLC4A7_uc011awz.2_Intron|SLC4A7_uc011axa.2_Intron|SLC4A7_uc011axb.2_Frame_Shift_Del_p.L368fs|SLC4A7_uc021wul.1_Intron|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Intron|SLC4A7_uc021wum.1_Intron|SLC4A7_uc003cdu.4_Intron|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdv.3_Frame_Shift_Del_p.L372fs|SLC4A7_uc003cdw.3_Intron	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	372						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GCCTGGAGTTAAGTCAACATTT	0.455													20	93	---	---	---	---					
CSRNP1	64651	broad.mit.edu	37	3	39188103	39188105	+	In_Frame_Del	DEL	GAG	-	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:39188103_39188105delGAG	uc003cjg.3	-	1	283_285	c.69_71delCTC	c.(67-72)tcctct>tct	p.23_24SS>S	CSRNP1_uc003cjh.3_In_Frame_Del_p.23_24SS>S	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	23	Ser-rich.				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCCAGAGGAAGAGGAGGAGGAGG	0.616													2	4	---	---	---	---					
SLC9A3	6550	broad.mit.edu	37	5	480012	480012	+	Frame_Shift_Del	DEL	T	-	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:480012delT	uc003jbe.2	-	9	1698	c.1586delA	c.(1585-1587)gacfs	p.D529fs	SLC9A3_uc011clx.1_Frame_Shift_Del_p.D520fs|BC013821_uc011cly.2_Non-coding_Transcript	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	529						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CAGGATCCGGTCTCGAGACTT	0.607													9	130	---	---	---	---					
ARHGEF5	7984	broad.mit.edu	37	7	144070332	144070332	+	Frame_Shift_Del	DEL	A	-	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:144070332delA	uc003wel.3	+	9	4213	c.4095delA	c.(4093-4095)acafs	p.T1365fs	ARHGEF5_uc003wek.3_Frame_Shift_Del_p.T1365fs|ARHGEF5_uc003wem.3_Frame_Shift_Del_p.T220fs	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1365					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.R1364L(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGCGACGGACAGAGGAACTAA	0.522													18	201	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													3	4	---	---	---	---					
DOCK11	139818	broad.mit.edu	37	X	117707777	117707778	+	Frame_Shift_Ins	INS	-	T	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:117707777_117707778insT	uc004eqp.2	+	11	1248_1249	c.1185_1186insT	c.(1183-1188)ccctttfs	p.P395fs	DOCK11_uc004eqq.2_Frame_Shift_Ins_p.P161fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	395					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGTTGAGCCCTTTTTTATCAA	0.411													17	90	---	---	---	---					
