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
DIP2A	23181	broad.mit.edu	37	21	47971767	47971767	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr21:47971767C>T	uc002zjo.2	+	24	3163	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	DIP2A_uc011afy.1_Missense_Mutation_p.R930C|DIP2A_uc011afz.1_Missense_Mutation_p.R990C	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	994					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTGCAGTGGCGTGCCCACAC	0.662000													5	25					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75812377	75812377	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:75812377G>A	uc021zbv.1	-	54	8386	c.8351C>T	c.(8350-8352)cCt>cTt	p.P2784L	COL12A1_uc021zbw.1_Missense_Mutation_p.P1620L|COL12A1_uc003phs.3_Missense_Mutation_p.P2784L|COL12A1_uc003pht.3_Missense_Mutation_p.P1620L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2784	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.P2784S(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGGCCTGGAGGACCTATGTC	0.502000													13	8					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80046850	80046850	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:80046850G>T	uc002kdu.3	-	13	2416	c.2299C>A	c.(2299-2301)Ctg>Atg	p.L767M	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	767	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTACCTGCAGCAGGGCGTGG	0.697000													7	9					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998886	29998886	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr16:29998886G>A	uc010bzm.2	+	14	3349	c.3314G>A	c.(3313-3315)cGg>cAg	p.R1105Q	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.R985Q|TAOK2_uc002dva.2_Missense_Mutation_p.R1098Q|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.R925Q	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1098					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATGGCCTTCCGGGCCCTGCAG	0.701000													8	106					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766321	27766321	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chrX:27766321C>A	uc011mjy.2	+	0	1396	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGGCACAGAGCTGCTAGCCAG	0.428000													3	42					0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125450015	125450015	+	Silent	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:125450015C>A	uc009zbl.3	+	7	830	c.588C>A	c.(586-588)atC>atA	p.I196I	EI24_uc001qca.3_Silent_p.I196I|EI24_uc001qcb.3_Silent_p.I196I|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Silent_p.I182I|EI24_uc010sbf.2_Non-coding_Transcript	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	196			I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions).		apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCTTTCCCATCCATCTTGTCG	0.423000													104	179					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328313	160328313	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:160328313C>T	uc003qsz.3	+	0	340	c.326C>T	c.(325-327)tCa>tTa	p.S109L		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	109					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GTCACATTATCAGTGACTTTT	0.453000													34	88					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18625328	18625328	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr18:18625328T>C	uc002kte.3	-	4	1456	c.515A>G	c.(514-516)gAa>gGa	p.E172G		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	172	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGCCCATTTTTCAGGCACATC	0.368000													8	5					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	68					0	0	1	0	0
METTL11A	28989	broad.mit.edu	37	9	132397600	132397600	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr9:132397600G>T	uc004byd.1	+	3	723	c.529G>T	c.(529-531)Gac>Tac	p.D177Y	METTL11A_uc011mbs.1_3'UTR|METTL11A_uc010myw.1_Non-coding_Transcript|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.2_3'UTR|ASB6_uc010myx.2_3'UTR|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.	177					N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization	nucleus	protein binding|protein methyltransferase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						CGTGATTCTGGACGACGTGGA	0.642000													40	78					0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397716	76397716	+	Silent	SNP	G	G	A	rs11811988		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:76397716G>A	uc001dhe.2	-	0	401	c.261C>T	c.(259-261)ctC>ctT	p.L87L	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	87					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378000													17	28					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183778109	183778109	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:183778109T>A	uc003fmk.3	+	8	1347	c.1313T>A	c.(1312-1314)aTc>aAc	p.I438N		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	438						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.S437T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCTCCTCCATCCTTACTGTC	0.567000													90	170					0	0	1	0	0
AX746964	0	broad.mit.edu	37	5	140242415	140242415	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:140242415C>T	uc003lhy.1	-	0	810	c.561G>A	c.(559-561)gcG>gcA	p.A187A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399;																		GAGCGCGCGACGCGGGCATGC	0.637000													8	33					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115856461	115856461	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:115856461G>T	uc003ibu.3	-	5	2116	c.1437C>A	c.(1435-1437)ttC>ttA	p.F479L	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	479	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAGTGTGAGTGAACAACCCAC	0.413000													18	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9005698	9005698	+	Silent	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:9005698G>A	uc002mkp.3	-	45	39912	c.39708C>T	c.(39706-39708)gaC>gaT	p.D13236D	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.D53D|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13238	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D388D(1)|p.D13236D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGATGGCGTCCACTCTGG	0.572000													13	25					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058097	48058097	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:48058097G>T	uc010bek.3	+	13	1819	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	SEMA6D_uc001zvw.3_Missense_Mutation_p.V487F|SEMA6D_uc001zvy.3_Missense_Mutation_p.V487F|SEMA6D_uc001zvz.3_Missense_Mutation_p.V487F|SEMA6D_uc001zwa.3_Missense_Mutation_p.V487F|SEMA6D_uc001zwb.3_Missense_Mutation_p.V487F|SEMA6D_uc001zwc.3_Missense_Mutation_p.V487F	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	487	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGACAAAAAGGTCATCTCATT	0.428000													28	50					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7414748	7414748	+	Silent	SNP	G	G	A	rs149944070		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:7414748G>A	uc003jdz.1	+	1	340	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	91					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTCTTTGCGATATTTATCC	0.428000													6	148					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57436930	57436930	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr12:57436930G>A	uc001smw.4	-	11	1264	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	MYO1A_uc010sqz.2_Missense_Mutation_p.R180W|MYO1A_uc009zpd.3_Missense_Mutation_p.R342W	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	342	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGGGCGTCCCGAGCATACTGA	0.542000													5	80					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49935036	49935036	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:49935036C>T	uc003cxy.4	-	5	2227	c.1963G>A	c.(1963-1965)Gtc>Atc	p.V655I	MST1R_uc011bdc.2_Missense_Mutation_p.V655I|MST1R_uc011bdd.2_Missense_Mutation_p.V655I	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	655	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTGAGGCTGACGTTGGTAGGC	0.607000													4	67					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881544	228881544	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:228881544C>T	uc002vpq.2	-	6	4073	c.4026G>A	c.(4024-4026)tcG>tcA	p.S1342S	SPHKAP_uc002vpp.2_Silent_p.S1342S|SPHKAP_uc010zlx.1_Silent_p.S1342S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1342						cytoplasm	protein binding	p.P1341R(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCTGCTTGCGAGGGAGAGC	0.527000													7	48					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:7578555C>T	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		CAGGGGAGTACTGTAGGAAGA	0.552000		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)			11	6					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708257	43708257	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:43708257G>T	uc002ovy.3	-	1	313	c.211C>A	c.(211-213)Caa>Aaa	p.Q71K	PSG4_uc002ovz.3_Missense_Mutation_p.Q71K|PSG4_uc002owb.3_Missense_Mutation_p.Q71K	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	71	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TATGTCATTTGCCCTTTGTAC	0.418000													73	144					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76532380	76532380	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:76532380C>T	uc011cbp.2	-	3	1054	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	CDKL2_uc003hiq.3_Missense_Mutation_p.V177I|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	177	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCATACTTGACATCACCAACC	0.418000													41	54					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61891049	61891049	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr16:61891049G>T	uc002eog.2	-	3	1596	c.641C>A	c.(640-642)cCt>cAt	p.P214H	CDH8_uc002eoh.3_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	214	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q213Q(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGAAAAATAAGGCTGCCCTTC	0.403000													8	43					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106993798	106993798	+	Splice_Site	SNP	C	C	T	rs7146961	by1000genomes	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr14:106993798C>T	uc021ser.1	-	234		c.9455_splice	c.e234+1							Parts of antibodies, mostly variable regions.																		TCACACTGACCTCCCCTCACT	0.587000													6	215					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174547	150174547	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr7:150174547C>T	uc003whj.3	+	4	2007	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	559						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTACGAAATACGCGATTATGC	0.473000													7	114					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21564710	21564710	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:21564710C>A	uc001bek.2	-	10	1381	c.1306G>T	c.(1306-1308)Gtg>Ttg	p.V436L	ECE1_uc001bem.2_Missense_Mutation_p.V420L|ECE1_uc001bej.2_Missense_Mutation_p.V424L|ECE1_uc001bei.2_Missense_Mutation_p.V433L|ECE1_uc010odl.1_Missense_Mutation_p.V436L|ECE1_uc009vqa.1_Missense_Mutation_p.V436L	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	436					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GTGTCACTCACGCAAAACTTC	0.552000													3	33					0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74783766	74783766	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:74783766C>G	uc002sms.3	+	4	1341	c.971C>G	c.(970-972)gCt>gGt	p.A324G	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.3_Missense_Mutation_p.A185G|DOK1_uc010ffo.3_Missense_Mutation_p.A185G|DOK1_uc002smt.3_Missense_Mutation_p.A110G|DOK1_uc002smu.3_Missense_Mutation_p.A110G|DOK1_uc010yrz.2_Missense_Mutation_p.A313G|DOK1_uc002smw.1_Missense_Mutation_p.A110G	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	324					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGCACGTCTGCTCAGGCAGGA	0.567000													26	100					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7096378	7096378	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:7096378C>T	uc010vtn.2	-	15	1832	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Silent_p.S581S|DLG4_uc002get.4_Silent_p.S627S|DLG4_uc010vto.2_Silent_p.S624S	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	584					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TCTCCCGGGACGACACAAAGT	0.567000													55	39					0	0	1	0	0
PLSCR1	5359	broad.mit.edu	37	3	146246434	146246434	+	Silent	SNP	T	T	C			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146246434T>C	uc003evx.4	-	3	667	c.279A>G	c.(277-279)ttA>ttG	p.L93L	PLSCR1_uc011bnn.2_Intron|PLSCR1_uc003evz.4_Intron|PLSCR1_uc003ewa.2_Silent_p.L93L	NM_021105	NP_066928	O15162	PLS1_HUMAN	Homo sapiens phospholipid scramblase 1 (PLSCR1), mRNA.	93					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GTGGACAGTTTAATGGAGGCT	0.428000													65	99					0	0	1	0	0
CARD18	59082	broad.mit.edu	37	11	105009575	105009575	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:105009575C>A	uc021qpy.1	-	1	246	c.238G>T	c.(238-240)Gac>Tac	p.D80Y		NM_021571	NP_067546	P57730	CAR18_HUMAN	Homo sapiens caspase recruitment domain family, member 18 (CARD18), mRNA.	80	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						AGTTGAGGGTCTTCTTCACAG	0.408000													24	179					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63282957	63282957	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:63282957G>A	uc021vim.1	+	4	847	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	OTX1_uc002scd.3_Missense_Mutation_p.V191M|OTX1_uc010ypt.2_Missense_Mutation_p.V125M	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	191						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V191V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCCCGCGTCCGTGTCGGTGCC	0.682000													3	16					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27692213	27692213	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:27692213C>T	uc001itu.2	-	2	1403	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	429	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGCCAAAGCCGCTCACCACT	0.453000													8	95					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101154018	101154018	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr8:101154018C>T	uc003yjd.3	-	1	1200	c.464G>A	c.(463-465)cGc>cAc	p.R155H	FBXO43_uc003yje.3_Missense_Mutation_p.R121H|FBXO43_uc010mbp.2_Missense_Mutation_p.R155H	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	155					meiosis		zinc ion binding	p.N155N(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAACCTTCTGCGAGGTAAACA	0.343000													47	70					0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170885949	170885949	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:170885949T>A	uc010zdi.2	+	30	4547	c.4547T>A	c.(4546-4548)aTg>aAg	p.M1516K	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Missense_Mutation_p.M337K|UBR3_uc002uft.4_Missense_Mutation_p.M373K|UBR3_uc010zdj.2_Missense_Mutation_p.M207K|UBR3_uc002ufu.4_Missense_Mutation_p.M22K	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1516					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAGAAGAGATGAATCCACAG	0.318000													13	33					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91859724	91859724	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:91859724C>G	uc001doa.4	-	3	519	c.420G>C	c.(418-420)aaG>aaC	p.K140N	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.K140N	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	140							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAGGAACACTCTTCTCAGGTG	0.333000													21	66					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129899951	129899951	+	Silent	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:129899951G>A	uc001lke.3	-	13	9471	c.9276C>T	c.(9274-9276)cgC>cgT	p.R3092R	MKI67_uc001lkf.3_Silent_p.R2732R	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	3092					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)				GGCGTCTGGAGCGCAGGGATA	0.363000													3	30					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976777	106976777	+	Silent	SNP	C	C	T	rs143982937	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:106976777C>T	uc001kyi.1	+	18	2858	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	877	PKD.					integral to membrane	neuropeptide receptor activity	p.D877Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATCGAGGACGGCATCAAGC	0.527000													9	71					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117784	117784	+	RNA	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chrGL000205.1:117784G>A	uc002kgk.4	+	0		c.1162G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CAAGGCCTTTGCAGGATGGGA	0.572000													6	90					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9754286	9754286	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:9754286C>T	uc021wst.1	+	7	610	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CPNE9_uc003bsd.3_Missense_Mutation_p.R146W	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	147	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TAGCAATTGTCGGGTCAGTAA	0.532000													44	71					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048456	6048456	+	Missense_Mutation	SNP	G	G	A	rs145606510	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:6048456G>A	uc010qzw.2	-	0	516	c.479C>T	c.(478-480)gCg>gTg	p.A160V		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAAGAAGCGCATTCCGCAC	0.493000													8	124					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42679977	42679977	+	Silent	SNP	C	C	T	rs144383442	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:42679977C>T	uc001zpn.1	+	3	831	c.525C>T	c.(523-525)gaC>gaT	p.D175D	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Silent_p.D88D|CAPN3_uc010udf.1_Silent_p.D88D|CAPN3_uc010udg.1_Silent_p.D88D|CAPN3_uc001zpo.1_Silent_p.D175D|CAPN3_uc001zpp.1_Silent_p.D175D	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	175	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGTGGGTGGACGTGGTTATAG	0.493000													35	160					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677690	37677690	+	Missense_Mutation	SNP	G	G	A	rs147861258		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:37677690G>A	uc002ofq.3	-	4	1001	c.749C>T	c.(748-750)gCg>gTg	p.A250V	ZNF585B_uc002ofr.1_Missense_Mutation_p.A64V	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTGTGAACGCTTTGCCACA	0.428000													12	139					0	0	1	0	0
PLSCR5	389158	broad.mit.edu	37	3	146307581	146307581	+	Silent	SNP	C	C	T			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146307581C>T	uc010hvc.3	-	5	1640	c.636G>A	c.(634-636)aaG>aaA	p.K212K	PLSCR5_uc010hvb.3_Silent_p.K200K	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	Homo sapiens phospholipid scramblase family, member 5 (PLSCR5), mRNA.	212										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAATTGTAAGCTTTTCATTAA	0.328000													3	53					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147796	67147796	+	Silent	SNP	C	C	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:67147796C>A	uc001dcr.3	+	14	1276	c.1059C>A	c.(1057-1059)ggC>ggA	p.G353G	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Silent_p.G120G	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	353	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding	p.L352L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GCCCTCTCGGCCCCCCAGGTC	0.597000													6	141					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668748	8668748	+	Silent	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:8668748G>A	uc002mkj.1	-	4	730	c.456C>T	c.(454-456)gaC>gaT	p.D152D	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	152					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTCTTCCTCGTCTGCCACGA	0.572000													11	48					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028507	102028507	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr14:102028507G>A	uc021sdx.1	+	0	820	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	199					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CTGGAGGACCGGGTCAGCGCA	0.642000													8	101					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413025	19413025	+	RNA	SNP	A	A	G			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr13:19413025A>G	uc010tcj.1	-	0		c.33085T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATAACCTGCACATCCATGCA	0.299000													2	8					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132177694	132177694	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:132177694G>A	uc010sci.2	+	4	969	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NTM_uc001qgm.3_Missense_Mutation_p.R213Q|NTM_uc010sch.2_Missense_Mutation_p.R204Q|NTM_uc010scj.2_Missense_Mutation_p.R172Q|NTM_uc001qgo.3_Missense_Mutation_p.R213Q|NTM_uc001qgq.3_Missense_Mutation_p.R213Q|NTM_uc001qgp.3_Missense_Mutation_p.R213Q	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	213	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.R213W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CCCGTGGTACGGAGAGTAAAG	0.582000													7	30					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	-	-	rs76272937		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													4	6	---	---	---	---					
HTT	3064	broad.mit.edu	37	4	3076673	3076675	+	In_Frame_Del	DEL	CCG	-	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:3076673_3076675delCCG	uc021xkv.1	+	0	266_268	c.121_123delCCG	c.(121-123)ccgdel	p.P49del	HTT-AS1_uc021xku.1_5'Flank	NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	49	Poly-Pro.				Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		acagccgccaccgccgccgccgc	0.744													2	4	---	---	---	---					
HSPA9	3313	broad.mit.edu	37	5	137892208	137892209	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:137892208_137892209delTT	uc003ldf.3	-	15	2205_2206	c.1894_1895delAA	c.(1894-1896)aatfs	p.N632fs		NM_004134	NP_004125	P38646	GRP75_HUMAN	Homo sapiens heat shock 70kDa protein 9 (mortalin) (HSPA9), nuclear gene encoding mitochondrial protein, mRNA.	632					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTCTAATATTTTCTCCTGTT	0.401													86	100	---	---	---	---					
SRSF3	6428	broad.mit.edu	37	6	36566669	36566670	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:36566669_36566670insA	uc003omj.3	+	2	421_422	c.250_251insA	c.(250-252)gaafs	p.E84fs	SRSF3_uc003omk.3_Non-coding_Transcript|SRSF3_uc011dtp.1_Frame_Shift_Ins_p.E84fs	NM_003017	NP_003008	P84103	SRSF3_HUMAN	Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA.	84					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GTCGAATGGTGAAAAAAGAAGT	0.485													31	107	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	-	-	rs3055861		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr8:41166638_41166640delGCT	uc003xnt.3	-	0	351_353	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	13					DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													5	2	---	---	---	---					
OR8I2	120586	broad.mit.edu	37	11	55861308	55861308	+	Frame_Shift_Del	DEL	T	-	-	rs112181516		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:55861308delT	uc010rix.2	+	0	525	c.525delT	c.(523-525)catfs	p.H175fs		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C178fs*2(1)|p.H175fs*10(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443													7	275	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93761193	93761193	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr14:93761193delT	uc001ybo.3	-	2	499	c.173delA	c.(172-174)aagfs	p.K58fs	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_5'UTR|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_5'UTR|BTBD7_uc001ybr.3_Frame_Shift_Del_p.K58fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	58								p.K58fs*44(3)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGAGGTTCTCTTTTTTTTGTC	0.438													9	104	---	---	---	---					
RUNDC1	146923	broad.mit.edu	37	17	41132963	41132963	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:41132963delC	uc002ici.1	+	0	382	c.370delC	c.(370-372)cggfs	p.R124fs	AARSD1_uc002icd.3_5'Flank|AARSD1_uc010whg.2_5'Flank|AARSD1_uc002ich.3_5'Flank|AARSD1_uc010whh.2_5'Flank|RUNDC1_uc021txw.1_Frame_Shift_Del_p.R124fs	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	124										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCGCCTTCTGCGGGAGCTCGA	0.726													2	4	---	---	---	---					
YIF1B	90522	broad.mit.edu	37	19	38806529	38806531	+	In_Frame_Del	DEL	GCC	-	-			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:38806529_38806531delGCC	uc002ohz.2	-	0	76_78	c.27_29delGGC	c.(25-30)gcggct>gct	p.9_10AA>A	YIF1B_uc002ohx.2_5'Flank|YIF1B_uc010xtx.1_5'Flank|YIF1B_uc010xty.1_5'Flank|YIF1B_uc002oia.2_In_Frame_Del_p.9_10AA>A|YIF1B_uc002ohy.2_In_Frame_Del_p.9_10AA>A|YIF1B_uc002oib.3_In_Frame_Del_p.9_10AA>A	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Homo sapiens Yip1 interacting factor homolog B (S. cerevisiae) (YIF1B), transcript variant 5, mRNA.	9						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGTCCCCGCAGCCGCCGCCGCCA	0.788													2	4	---	---	---	---					
