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
CYP4A11	1579	broad.mit.edu	37	1	47402416	47402416	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:47402416G>A	uc001cqp.4	-	3	481	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	CYP4A11_uc001cqq.2_Missense_Mutation_p.R144W|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	144					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTCAGCATCCGTCGATGCTGG	0.527												
DOCK7	85440	broad.mit.edu	37	1	63001286	63001286	+	Silent	SNP	C	C	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:63001286C>A	uc001daq.3	-	28	3523	c.3489G>T	c.(3487-3489)acG>acT	p.T1163T	DOCK7_uc001dan.3_Silent_p.T1024T|DOCK7_uc001dao.3_Silent_p.T1024T|DOCK7_uc001dap.3_Silent_p.T1132T|DOCK7_uc001dam.3_Silent_p.T343T|DOCK7_uc010oov.1_5'UTR	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1163					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTGTACATTCGTAGAAAATC	0.398												
VTCN1	79679	broad.mit.edu	37	1	117699373	117699373	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:117699373G>A	uc001ehb.3	-	2	373	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	90	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGCTCCGACAGCTCATCTTTG	0.458												
TXNIP	10628	broad.mit.edu	37	1	145440100	145440100	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:145440100G>A	uc001enn.4	+	3	875	c.534G>A	c.(532-534)gtG>gtA	p.V178V	TXNIP_uc010oys.2_Silent_p.V123V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	178					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.R177L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGGGCGGGTGTCTGTCTCTG	0.433												
NR1I3	9970	broad.mit.edu	37	1	161203002	161203002	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:161203002G>A	uc001fzx.3	-	3	568	c.365C>T	c.(364-366)aCc>aTc	p.T122I	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.T122I|NR1I3_uc001fzm.3_Missense_Mutation_p.T47I|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Missense_Mutation_p.T122I|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Missense_Mutation_p.T122I|NR1I3_uc001fzw.3_Missense_Mutation_p.T122I|NR1I3_uc001fzz.3_Missense_Mutation_p.T122I|NR1I3_uc001fzh.3_Missense_Mutation_p.T93I|NR1I3_uc001gab.3_Missense_Mutation_p.T122I|NR1I3_uc001gac.3_Missense_Mutation_p.T93I|NR1I3_uc001fzp.3_Missense_Mutation_p.T122I|NR1I3_uc001fzg.3_Missense_Mutation_p.T93I|NR1I3_uc001gaa.3_Missense_Mutation_p.T122I|NR1I3_uc001fzj.3_Missense_Mutation_p.T93I|NR1I3_uc001fzi.3_Missense_Mutation_p.T93I|NR1I3_uc001fzl.3_Missense_Mutation_p.T93I|NR1I3_uc001fzk.3_Missense_Mutation_p.T93I|NR1I3_uc010pkm.2_Missense_Mutation_p.T93I|NR1I3_uc010pkn.1_Missense_Mutation_p.T122I	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	122					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATGTGGCGGGTGTGGGCCCC	0.557												
KAT6B	23522	broad.mit.edu	37	10	76735758	76735758	+	Missense_Mutation	SNP	G	G	A	rs146395020	byFrequency	TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:76735758G>A	uc001jwn.1	+	7	2156	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R	KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Intron	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	555	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TACCACTCAGGGACAGTCTCG	0.493												
CYP2C19	1562	broad.mit.edu	37	10	96443660	96443660	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:96443660G>A	uc001kjv.4	+	0	410	c.84G>A	c.(82-84)agG>agA	p.R28R	CYP2C19_uc001kjw.4_Silent_p.R28R	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	28					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAAGAGGGAGGCTCCCGTCTG	0.483												
CYP2C19	1557	broad.mit.edu	37	10	96612523	96612523	+	Missense_Mutation	SNP	G	G	A	rs138112316		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:96612523G>A	uc010qnz.2	+	8	1325	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CYP2C19_uc010qny.2_Missense_Mutation_p.R420H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	442			R -> C (in allele CYP2C19*16; lowered catalytic activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R442H(4)|p.R442L(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCCTGGCCCGCATGGAGCTG	0.433												
BTBD16	118663	broad.mit.edu	37	10	124066797	124066797	+	Nonsense_Mutation	SNP	T	T	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:124066797T>A	uc001lgc.1	+	9	1136	c.885T>A	c.(883-885)taT>taA	p.Y295*	BTBD16_uc001lgd.1_Nonsense_Mutation_p.Y294*	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	295										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTCCGACTTATGAAACCGTGA	0.353												
OR4C46	119749	broad.mit.edu	37	11	51515606	51515606	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr11:51515606G>A	uc010ric.2	+	0	325	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CGGAGGTGCAGAGGGCATCCT	0.473												
CPSF6	11052	broad.mit.edu	37	12	69652697	69652697	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:69652697C>T	uc001sut.4	+	5	1132	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	CPSF6_uc001suu.4_Missense_Mutation_p.P378L|CPSF6_uc010stk.2_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	341	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	p.P341P(1)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GCTCCTCCTCCGCATCTTCCT	0.617												
SLC6A15	55117	broad.mit.edu	37	12	85255645	85255645	+	Silent	SNP	T	T	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:85255645T>A	uc001szv.3	-	11	2452	c.1959A>T	c.(1957-1959)gcA>gcT	p.A653A	SLC6A15_uc010sul.2_Silent_p.A546A	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	653					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGGTCACAGATGCTAAATTAC	0.438												
ARL1	400	broad.mit.edu	37	12	101794864	101794864	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:101794864T>A	uc001tib.3	-	3	461	c.312A>T	c.(310-312)aaA>aaT	p.K104N	ARL1_uc010svn.2_Missense_Mutation_p.K58N|ARL1_uc010svo.2_Non-coding_Transcript	NM_001177	NP_001168	P40616	ARL1_HUMAN	Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.	104					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CTAACTCTGATTTGGAAATGC	0.348												
CDX2	1045	broad.mit.edu	37	13	28537311	28537311	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr13:28537311A>G	uc001urv.3	-	2	1057	c.883T>C	c.(883-885)Tct>Cct	p.S295P		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	295					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CCAGGGACAGAGCCAGGCACT	0.657			T	ETV6	AML							
TEP1	7011	broad.mit.edu	37	14	20841727	20841727	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr14:20841727G>A	uc001vxe.3	-	45	6660	c.6620C>T	c.(6619-6621)tCa>tTa	p.S2207L	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Missense_Mutation_p.S1550L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S2099L|TEP1_uc010tlh.1_Missense_Mutation_p.S545L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2207					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGAAGCTCTGACCCAGGCTG	0.577												
BCL11B	64919	broad.mit.edu	37	14	99642350	99642351	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr14:99642350_99642351insCA	uc001yga.3	-	3	1089_1090	c.822_823insTG	c.(820-825)gtggcgfs	p.V274fs	BCL11B_uc001ygb.3_Frame_Shift_Ins_p.V203fs	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	274						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGGACTGCGCCACGGCCTCCG	0.718			T	TLX3	T-ALL							
CASC5	57082	broad.mit.edu	37	15	40911168	40911168	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:40911168T>G	uc010bbs.1	+	9	573	c.412T>G	c.(412-414)Ttg>Gtg	p.L138V	CASC5_uc010ucq.1_Intron|CASC5_uc001zme.3_Missense_Mutation_p.L112V|CASC5_uc010bbt.1_Missense_Mutation_p.L112V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	138	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GATGAACACATTGCTTTCTGC	0.333												
FES	2242	broad.mit.edu	37	15	91438682	91438682	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:91438682C>T	uc002bpv.3	+	18	2482	c.2363C>T	c.(2362-2364)gCc>gTc	p.A788V	FES_uc010uqj.2_Missense_Mutation_p.A660V|FES_uc010uqk.2_Missense_Mutation_p.A770V|FES_uc002bpx.3_Missense_Mutation_p.A718V|FES_uc002bpy.3_Missense_Mutation_p.A730V|FES_uc010bny.3_Missense_Mutation_p.A647V	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	788	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTCCTGATGCCGTGTTCAGG	0.632												
ADAMTS17	170691	broad.mit.edu	37	15	100537641	100537641	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:100537641G>A	uc002bvv.1	-	18	2824	c.2745C>T	c.(2743-2745)agC>agT	p.S915S		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	915	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCCTTCACAGCTCTGCACTg	0.677												
ZKSCAN2	342357	broad.mit.edu	37	16	25251946	25251946	+	Missense_Mutation	SNP	C	C	T	rs148950715	byFrequency	TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr16:25251946C>T	uc002dod.4	-	6	2502	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.D495N	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	699					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTGCTGGGGTCGGTACTCTGG	0.418												
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)		
PIRT	644139	broad.mit.edu	37	17	10728644	10728644	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:10728644C>T	uc010col.3	-	1	614	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	PIRT_uc021tqe.1_Missense_Mutation_p.G107R	NM_001101387	NP_001094857	P0C851	PIRT_HUMAN	Homo sapiens phosphoinositide-interacting regulator of transient receptor potential channels (PIRT), mRNA.	107						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CACACCAGCCCGCACACCAGC	0.527												
CCL3	6348	broad.mit.edu	37	17	34416597	34416597	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:34416597C>T	uc002hkv.3	-	1	222	c.120G>A	c.(118-120)cgG>cgA	p.R40R		NM_002983	NP_002974	P10147	CCL3_HUMAN	Homo sapiens chemokine (C-C motif) ligand 3 (CCL3), mRNA.	40		Involved in GAG binding.			cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGGAATCTGCCGGGAGGTGT	0.542												
KIF18B	146909	broad.mit.edu	37	17	43004364	43004364	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:43004364C>T	uc010wji.2	-	13	2469	c.2368G>A	c.(2368-2370)Gtt>Att	p.V790I	KIF18B_uc002iht.3_Missense_Mutation_p.V799I|KIF18B_uc010wjh.2_Missense_Mutation_p.V787I	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.									p.V799I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACCTCGCAACGCGCTTCTTC	0.637												
MUC16	94025	broad.mit.edu	37	19	9077406	9077406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:9077406C>T	uc002mkp.3	-	2	10244	c.10040G>A	c.(10039-10041)tGg>tAg	p.W3347*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3348	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGCCATGCCACATAGAGAA	0.502												
C19orf54	284325	broad.mit.edu	37	19	41250512	41250512	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:41250512G>A	uc002oou.1	-	2	589	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	C19orf54_uc002oow.1_Missense_Mutation_p.T26M|C19orf54_uc002oox.1_Non-coding_Transcript|C19orf54_uc002ooy.1_Missense_Mutation_p.R19W|C19orf54_uc010xvs.1_Non-coding_Transcript	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.	157										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTGGCCACCCGTATGAGTCTC	0.627												
CEACAM5	1048	broad.mit.edu	37	19	42213611	42213611	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:42213611C>A	uc002orl.3	+	1	198	c.77C>A	c.(76-78)aCc>aAc	p.T26N	CEACAM5_uc010ehz.1_Missense_Mutation_p.T26N|CEACAM5_uc002orj.1_Missense_Mutation_p.T26N	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	26						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCACTTCTAACCTTCTGGAAC	0.537												
NLRP12	91662	broad.mit.edu	37	19	54312882	54312882	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:54312882G>A	uc002qcj.4	-	2	2251	c.2031C>T	c.(2029-2031)cgC>cgT	p.R677R	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.R677R|NLRP12_uc002qci.4_Silent_p.R677R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.R677R	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	677					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCACCTCGCGCGGTCTTCCC	0.587												
SLC30A3	7781	broad.mit.edu	37	2	27481038	27481038	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:27481038G>A	uc002rjk.3	-	2	601	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	SLC30A3_uc002rjj.3_5'UTR|SLC30A3_uc010ylh.2_Missense_Mutation_p.H134Y	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	139					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAACGGTGCCAGCCAAAG	0.637												
IL1A	3552	broad.mit.edu	37	2	113537182	113537182	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:113537182C>T	uc002tig.3	-	4	1341	c.381G>A	c.(379-381)atG>atA	p.M127I		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	127					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TGATGATCCTCATAAAGTTGT	0.393												
ARMC9	80210	broad.mit.edu	37	2	232127073	232127073	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:232127073A>T	uc002vrq.4	+	11	1193	c.1081A>T	c.(1081-1083)Atc>Ttc	p.I361F	ARMC9_uc002vrp.4_Missense_Mutation_p.I361F|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	361							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCAAGCCTACATCAGCAATGA	0.498												
BCAS1	8537	broad.mit.edu	37	20	52570143	52570143	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr20:52570143T>C	uc002xws.2	-	10	1846	c.1508A>G	c.(1507-1509)aAg>aGg	p.K503R	BCAS1_uc010zza.1_Missense_Mutation_p.K169R|BCAS1_uc010zzb.1_Missense_Mutation_p.K429R|BCAS1_uc010gim.2_Missense_Mutation_p.K359R|BCAS1_uc002xwt.2_Missense_Mutation_p.K489R|BCAS1_uc010gil.1_Missense_Mutation_p.K425R	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	503						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGCTGACTTCTTGTCCTTCGA	0.537												
RAD54L2	23132	broad.mit.edu	37	3	51690165	51690165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:51690165C>T	uc011bdt.2	+	18	3330	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*	RAD54L2_uc003dbh.3_Nonsense_Mutation_p.Q658*|RAD54L2_uc011bdu.2_Nonsense_Mutation_p.Q763*|RAD54L2_uc003dbj.3_Nonsense_Mutation_p.Q395*	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1069						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGTCCTTGTGCAGAAGGTGGT	0.493												
DPPA2	151871	broad.mit.edu	37	3	109028077	109028077	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:109028077C>G	uc003dxo.3	-	3	529	c.282G>C	c.(280-282)aaG>aaC	p.K94N		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	94	SAP.					nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGACACACCTTATTAATGG	0.443												
COL6A5	256076	broad.mit.edu	37	3	130095557	130095557	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:130095557C>T	uc010htj.1	+	2	1039	c.545C>T	c.(544-546)aCa>aTa	p.T182I	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	182	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCCATGGCCACATCCCATTTC	0.473												
PDGFRA	5156	broad.mit.edu	37	4	55133558	55133558	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr4:55133558T>C	uc003han.4	+	5	1193	c.862T>C	c.(862-864)Tac>Cac	p.Y288H	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.Y182H|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	288	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CAGTGGAGATTACGAATGTGC	0.473			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
RBM46	166863	broad.mit.edu	37	4	155720138	155720138	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr4:155720138T>C	uc003ioo.3	+	3	997	c.824T>C	c.(823-825)tTt>tCt	p.F275S	RBM46_uc011cim.1_Missense_Mutation_p.F275S|RBM46_uc003iop.1_Missense_Mutation_p.F275S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	275	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GATTATGCTTTTGTTCACTTT	0.363												
LPCAT1	79888	broad.mit.edu	37	5	1494825	1494825	+	Silent	SNP	C	C	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:1494825C>A	uc003jcm.3	-	2	600	c.483G>T	c.(481-483)ccG>ccT	p.P161P		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	161					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTCCCCAGATCGGGATGTCTC	0.597												
HSPB3	8988	broad.mit.edu	37	5	53751847	53751847	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:53751847C>T	uc003jph.2	+	0	417	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.	76					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		p.D76V(1)|p.L75L(1)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547												
CTNNA1	1495	broad.mit.edu	37	5	138221907	138221907	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:138221907C>T	uc003ldh.3	+	7	1164	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	CTNNA1_uc011cyx.2_Missense_Mutation_p.R254C|CTNNA1_uc011cyy.2_Missense_Mutation_p.R234C|CTNNA1_uc003ldi.3_Missense_Mutation_p.R55C|CTNNA1_uc003ldj.3_Missense_Mutation_p.R357C|CTNNA1_uc003ldl.3_5'UTR	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	357	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCAGGCTGGACGTAAAGAAAG	0.378												
PCDHGC5	56107	broad.mit.edu	37	5	140782734	140782734	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:140782734C>T	uc003lkh.2	+	0	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.T72M	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	72	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGTAGGACGCAGCTTTTC	0.622												
BTNL8	79908	broad.mit.edu	37	5	180377067	180377067	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:180377067C>T	uc003mmp.3	+	7	1260	c.1026C>T	c.(1024-1026)taC>taT	p.Y342Y	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Silent_p.Y217Y|BTNL8_uc010jlm.3_Silent_p.Y226Y|BTNL8_uc011dhh.2_Silent_p.Y158Y	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	342	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAACATTACTGGGAGGTGG	0.522												
KIF13A	63971	broad.mit.edu	37	6	17772259	17772259	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:17772259G>A	uc003ncg.4	-	36	4516	c.4356C>T	c.(4354-4356)acC>acT	p.T1452T	KIF13A_uc003ncf.3_Silent_p.T1439T|KIF13A_uc003nch.4_Silent_p.T1452T|KIF13A_uc003nci.4_Silent_p.T1439T|KIF13A_uc003nce.2_Silent_p.T38T	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1452					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGGGCTGACGGTTAAGGCAT	0.433												
DAXX	1616	broad.mit.edu	37	6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:33289539C>T	uc003oec.3	-	1	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_uc021ywn.1_Missense_Mutation_p.G55D|DAXX_uc021ywo.1_Missense_Mutation_p.G55D|DAXX_uc011dre.2_Missense_Mutation_p.G67D|DAXX_uc003oed.3_Missense_Mutation_p.G55D|DAXX_uc011drd.2_Intron|DAXX_uc010juw.2_5'UTR	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	55	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTCTTGCCGCCCGAACT	0.602			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM							
KPNA5	3841	broad.mit.edu	37	6	117023258	117023258	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:117023258C>G	uc003pxh.3	+	5	643	c.512C>G	c.(511-513)gCt>gGt	p.A171G		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	168	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GAAACTGGGGCTGTTCCGATT	0.338												
UTRN	7402	broad.mit.edu	37	6	144757266	144757266	+	Missense_Mutation	SNP	A	A	T	rs150684617		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:144757266A>T	uc003qkt.3	+	8	1143	c.1051A>T	c.(1051-1053)Acc>Tcc	p.T351S	UTRN_uc010khq.1_Missense_Mutation_p.T351S	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	351	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGTTTGCAACCCATGAAGT	0.453												
DMTF1	9988	broad.mit.edu	37	7	86811558	86811558	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr7:86811558A>G	uc003uih.3	+	9	1051	c.725A>G	c.(724-726)cAt>cGt	p.H242R	DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Missense_Mutation_p.H154R|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.H242R|DMTF1_uc003uin.3_5'UTR	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	242	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CGGATAAAGCATGGCAATGAC	0.433												
TRPV5	56302	broad.mit.edu	37	7	142605705	142605705	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr7:142605705T>C	uc003wby.1	-	14	2429	c.2165A>G	c.(2164-2166)gAt>gGt	p.D722G		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	722	Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCTCTCCATCCCCCTCACT	0.567												
PTK2B	2185	broad.mit.edu	37	8	27296903	27296903	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:27296903G>A	uc003xfn.2	+	24	2630	c.1822G>A	c.(1822-1824)Gtc>Atc	p.V608I	PTK2B_uc022ate.1_Missense_Mutation_p.V608I|PTK2B_uc003xfp.2_Missense_Mutation_p.V608I|PTK2B_uc003xfq.2_Missense_Mutation_p.V608I|PTK2B_uc003xfr.1_Missense_Mutation_p.V354I	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	608	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGCCAGTGACGTCTGGATGTT	0.547												
GEM	2669	broad.mit.edu	37	8	95264452	95264452	+	Splice_Site	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:95264452C>T	uc003ygi.3	-	4	533	c.409_splice	c.e4-1	p.G137_splice	GEM_uc003ygj.3_Splice_Site_p.G137_splice	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	137					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTTTCCCCCTAATGAAACA	0.453												
ZFAT	57623	broad.mit.edu	37	8	135613849	135613849	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:135613849C>T	uc003yup.3	-	5	2299	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	ZFAT_uc003yun.3_Missense_Mutation_p.A693T|ZFAT_uc003yuo.3_Missense_Mutation_p.A693T|ZFAT_uc010meh.3_Missense_Mutation_p.A693T|ZFAT_uc010mej.3_Missense_Mutation_p.A643T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.A693T|ZFAT_uc003yur.3_Missense_Mutation_p.A693T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTCAGGGGCAGCTTTGCAA	0.557												
DOCK8	81704	broad.mit.edu	37	9	439344	439344	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:439344G>A	uc003zgf.2	+	39	5291	c.5179G>A	c.(5179-5181)Ggc>Agc	p.G1727S	DOCK8_uc022bcu.1_Missense_Mutation_p.G1659S|DOCK8_uc010mgv.3_Missense_Mutation_p.G1627S|DOCK8_uc010mgu.3_Missense_Mutation_p.G1029S|DOCK8_uc003zgk.2_Missense_Mutation_p.G1185S	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1727	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.Y1726H(1)|p.Y1726F(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CACCGAGAGTGGCCTGGTAGG	0.622												
COL15A1	1306	broad.mit.edu	37	9	101788194	101788194	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:101788194G>A	uc004azb.1	+	15	2195	c.1989G>A	c.(1987-1989)gaG>gaA	p.E663E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	663	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.E663D(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGCCCTGAGGGACAGCCTG	0.582												
ABCA1	19	broad.mit.edu	37	9	107555100	107555100	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:107555100C>G	uc004bcl.3	-	41	6128	c.5724G>C	c.(5722-5724)caG>caC	p.Q1908H		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1908					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATGTCATTCTGGCCTCCAC	0.423												
RALGDS	26301	broad.mit.edu	37	9	136031442	136031442	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:136031442G>T	uc011mcw.2	-	3	466	c.185C>A	c.(184-186)gCt>gAt	p.A62D	RALGDS_uc010nab.3_Missense_Mutation_p.L50M|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Missense_Mutation_p.L50M|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Missense_Mutation_p.L50M	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA.	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTGTAGTGCAGCTTCATGTTG	0.567			T	CIITA	"""PMBL, Hodgkin Lymphona, """							
TUBBP5	643224	broad.mit.edu	37	9	141071076	141071076	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:141071076C>T	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		GTGTCTGCTACCATGAGTGGG	0.557												
TUBBP5	643224	broad.mit.edu	37	9	141071097	141071097	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:141071097G>A	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		GTCACCACGTGCCTGCGCTTC	0.577												
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	Silent	SNP	A	A	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:141071110A>G	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597												
GRPR	2925	broad.mit.edu	37	X	16142166	16142166	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:16142166G>A	uc004cxj.3	+	0	743	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	30					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ATCTCCCCGTGAACGATGACT	0.478											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FOXR2	139628	broad.mit.edu	37	X	55650332	55650332	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:55650332G>C	uc004duo.3	+	0	500	c.188G>C	c.(187-189)aGg>aCg	p.R63T		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	63					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTCAGAAGAGGAGACCCAGT	0.537												
MAGEA5	4104	broad.mit.edu	37	X	151283896	151283896	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:151283896C>T	uc004ffj.3	-	2	289	c.117G>A	c.(115-117)gtG>gtA	p.V39V	MAGEA5_uc022cgy.1_Silent_p.V39V	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	39	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGAGGACACAGCCTCCT	0.647												
OPN1MW	2652	broad.mit.edu	37	X	153490645	153490645	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:153490645C>T	uc004fkd.3	+	1	463	c.381C>T	c.(379-381)gtC>gtT	p.V127V		NM_000513	NP_001041646	P04001	OPSG_HUMAN	Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA.	127					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTATGTGTGTCCTGGAGGGCT	0.617												
