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
CYB5R2	51700	broad.mit.edu	37	11	7690411	7690411	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr11:7690411G>A	uc009yfl.1	-	3	479	c.413C>T	c.(412-414)gCt>gTt	p.A138V	CYB5R2_uc001mfm.3_Intron|CYB5R2_uc001mfn.3_Intron|CYB5R2_uc009yfk.3_Intron			Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	0					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAGCTGGGAGCCCAAGTATT	0.483000													17	48					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484931	36484931	+	Silent	SNP	T	T	C			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr17:36484931T>C	uc002hpz.3	-	10	4542	c.4521A>G	c.(4519-4521)aaA>aaG	p.K1507K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1507						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTCTGGAGGCTTTTTCCTTTT	0.483000													3	218					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133074	64133074	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr3:64133074C>T	uc003dmf.3	-	6	1678	c.1092G>A	c.(1090-1092)cgG>cgA	p.R364R		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	364						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGGCTGACAGCCGGTTAGAAC	0.617000													5	137					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231740375	231740375	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr2:231740375A>G	uc002vqz.3	+	2	422	c.302A>G	c.(301-303)gAg>gGg	p.E101G	ITM2C_uc002vra.3_Missense_Mutation_p.E54G|ITM2C_uc002vrb.3_Missense_Mutation_p.E101G|ITM2C_uc002vrc.3_5'UTR|ITM2C_uc002vrd.3_5'UTR	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	101					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGCTGTATGAGGACTCCCTG	0.567000													3	170					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10414577	10414577	+	Silent	SNP	A	A	G			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr5:10414577A>G	uc003jet.1	+	19	2112	c.1929A>G	c.(1927-1929)acA>acG	p.T643T	MARCH6_uc011cmu.1_Silent_p.T595T|MARCH6_uc003jeu.1_Silent_p.T341T|MARCH6_uc011cmv.1_Silent_p.T538T	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	643					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGTGTATAACATTACTGATTG	0.348000													4	82					0	0	1	0	0
MEOX1	4222	broad.mit.edu	37	17	41738500	41738500	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr17:41738500C>A	uc002idz.3	-	0	432	c.403G>T	c.(403-405)Ggg>Tgg	p.G135W	MEOX1_uc002iea.3_Missense_Mutation_p.G135W|MEOX1_uc002ieb.3_Missense_Mutation_p.G20W	NM_004527	NP_001035091	P50221	MEOX1_HUMAN	Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.	135						nucleus	sequence-specific DNA binding	p.G135W(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CCAAGCACCCCGTAGTCATCG	0.607000													4	178					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	45					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294421	62294421	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr11:62294421T>C	uc001ntl.3	-	4	7768	c.7468A>G	c.(7468-7470)Agg>Ggg	p.R2490G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2490					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGGGCCCCTGATGTTCATA	0.478000													4	209					0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49218501	49218501	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr12:49218501C>G	uc001rsl.2	+	4	916	c.457C>G	c.(457-459)Cct>Gct	p.P153A	CACNB3_uc010slx.2_Missense_Mutation_p.P140A|CACNB3_uc010sly.2_Missense_Mutation_p.P140A|CACNB3_uc010slz.2_Missense_Mutation_p.P152A|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Missense_Mutation_p.P112A	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	153					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CCGACGCTCCCCTCCGCCATC	0.547000													3	68					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701709	96701709	+	Missense_Mutation	SNP	T	T	C	rs139656048		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr10:96701709T>C	uc001kka.4	+	1	288	c.263T>C	c.(262-264)aTt>aCt	p.I88T	CYP2C9_uc009xut.3_Missense_Mutation_p.I88T|CYP2C9_uc001kjz.3_Missense_Mutation_p.I88T	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	88					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAAGCCCTGATTGATCTTGGA	0.478000													13	158					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11370890	11370890	+	Splice_Site	SNP	T	T	C			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr10:11370890T>C	uc001ikk.2	+	14	1635	c.1475_splice	c.e14-1	p.G492_splice	CELF2_uc010qbj.1_Splice_Site_p.G473_splice|CELF2_uc001iki.4_Splice_Site_p.G467_splice|CELF2_uc001ikl.4_Splice_Site_p.G480_splice|CELF2_uc010qbl.1_Splice_Site_p.G443_splice|CELF2_uc010qbm.1_Splice_Site_p.G239_splice|CELF2_uc001iko.4_Splice_Site_p.G447_splice|CELF2_uc001ikp.4_Splice_Site_p.G449_splice|CELF2_uc010qbo.1_Splice_Site_p.G362_splice|CELF2_uc010qbp.1_Splice_Site_p.G239_splice	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	467	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ATTTTCCAGGTTTTGTTAGCT	0.517000													3	96					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802431	185802431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr2:185802431C>T	uc002uph.3	+	3	2902	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	770						intracellular	zinc ion binding	p.R770Q(2)|p.R770*(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGATTCTATCGAAAACGTAG	0.338000													16	66					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46313295	46313295	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr20:46313295C>T	uc002xto.3	-	5	1098	c.768G>A	c.(766-768)ccG>ccA	p.P256P	SULF2_uc002xtr.3_Silent_p.P256P|SULF2_uc002xtq.3_Silent_p.P256P	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	256					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.P256L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGTGTTTGTCCGGGTTGGGCG	0.617000													3	34					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811251	123811251	+	Missense_Mutation	SNP	G	G	T	rs143337717		TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr11:123811251G>T	uc001pzk.1	+	0	928	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACCCTATTGGTCCCCTGGA	0.502000													24	43					0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97084601	97084601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q6-01A-11D-A18F-08	TCGA-DJ-A2Q6-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0e7f5fc-f324-4be6-b07e-02006802cd94	31720585-e4b3-43d1-8c8c-0be236e04aeb	g.chr9:97084601G>A	uc004aup.1	-	2	745	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	242										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				GCCAGGGATCGGAGAACTGGG	0.632000													4	41					0	0	1	0	0