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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
EPHB6	2051	broad.mit.edu	37	7	142562309	142562309	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:142562309G>T	uc011kst.2	+	6	1538	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W	EPHB6_uc011ksu.2_Missense_Mutation_p.G251W|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	251	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682000														58			33		7.61165e-28	2.10884e-26	0.000109025	1	0
BC101079	0	broad.mit.edu	37	15	102294715	102294715	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr15:102294715C>T	uc010usj.2	+	4	602	c.543C>T	c.(541-543)gaC>gaT	p.D181D	DQ597539_uc002bxo.3_5'Flank|DQ593864_uc002bxq.2_5'Flank|DQ582666_uc002bxr.3_5'Flank|DQ597539_uc002bxs.3_5'Flank|DQ575740_uc002bxu.1_5'Flank|DQ582460_uc002bxv.1_5'Flank|DQ593630_uc002bxw.1_5'Flank|DQ575740_uc021sxz.1_5'Flank|DQ582460_uc021sya.1_5'Flank|DQ597539_uc021syb.1_5'Flank|DQ582666_uc002bxy.2_5'Flank|DQ575740_uc021syd.1_5'Flank|DQ582460_uc002byb.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank|DQ597703_uc021syi.1_5'Flank|DQ588362_uc002bys.3_5'Flank|DQ588425_uc002byv.3_5'Flank|DQ578285_uc002byx.4_5'Flank|DQ597461_uc021syl.1_5'Flank|DQ586138_uc002bza.3_5'Flank|DQ578289_uc002bzb.3_5'Flank|DQ586526_uc002bzc.1_5'Flank|DQ583497_uc002bze.3_5'Flank|DQ597703_uc002bzg.2_5'Flank|DQ586138_uc002bzi.2_5'Flank|DQ586526_uc002bzl.3_5'Flank|DQ588439_uc002bzm.3_5'Flank|DQ597703_uc002bzo.3_5'Flank|DQ576933_uc002bzp.3_5'Flank|DQ588425_uc002bzq.3_5'Flank|DQ600537_uc002bzr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AGCAGGCAGACCAAGGAGTTC	0.587000														2			3		0	0	0.00024832	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071082	150071082	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:150071082G>A	uc002twv.1	+	6	883	c.482G>A	c.(481-483)gGa>gAa	p.G161E	LYPD6B_uc002tww.1_Missense_Mutation_p.G123E|LYPD6B_uc002twx.1_Missense_Mutation_p.G123E	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	Homo sapiens LY6/PLAUR domain containing 6B (LYPD6B), mRNA.	137						anchored to membrane|plasma membrane		p.E160D(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TGCTGTGAAGGAATGATCTGC	0.433000														38			32		0	0	0.000191422	0	0
AK8	158067	broad.mit.edu	37	9	135698650	135698650	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr9:135698650C>T	uc004cbu.1	-	8	1387	c.831G>A	c.(829-831)gtG>gtA	p.V277V	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Silent_p.V73V	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	277	Adenylate kinase.					cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity	p.V277V(3)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCCCACTGCCCACAGGCCCGA	0.577000														82			57		0	0	0.000147903	0	0
FAM123C	205147	broad.mit.edu	37	2	131520378	131520378	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:131520378G>A	uc021voy.1	+	0	733	c.733G>A	c.(733-735)Gac>Aac	p.D245N	FAM123C_uc002trw.2_Missense_Mutation_p.D245N|FAM123C_uc010fmv.2_Missense_Mutation_p.D245N|FAM123C_uc010fms.1_Missense_Mutation_p.D245N|FAM123C_uc010fmt.1_Missense_Mutation_p.D245N|FAM123C_uc010fmu.1_Missense_Mutation_p.D245N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	245										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAGAGCTTCGACTCGCTCAC	0.647000														53			31		0	0	0.000228196	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414883	121414883	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:121414883G>A	uc010hrc.3	-	12	4613	c.4487C>T	c.(4486-4488)tCc>tTc	p.S1496F	GOLGB1_uc003eei.4_Missense_Mutation_p.S1491F|GOLGB1_uc003eej.4_Missense_Mutation_p.S1457F|GOLGB1_uc021xcy.1_Missense_Mutation_p.S1416F|GOLGB1_uc011bjm.1_Missense_Mutation_p.S1377F|GOLGB1_uc010hrd.1_Missense_Mutation_p.S1455F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1491					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTCTTTTCGGGAAATAAGGGC	0.418000														120			80		0	0	0.000147903	0	0
IL36RN	26525	broad.mit.edu	37	2	113818515	113818515	+	Splice_Site	SNP	G	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:113818515G>T	uc002tis.3	+	3	248	c.115_splice	c.e3+1	p.G39_splice	IL36RN_uc002tit.3_Splice_Site_p.G39_splice	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	39						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTCATTAAAGGTTGGTGATGA	0.473000														24			9		6.40141e-05	0.00172727	6.40141e-05	1	0
ACTL8	81569	broad.mit.edu	37	1	18149591	18149591	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:18149591C>T	uc001bat.3	+	1	304	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	30						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GATGGTCTTCCCGAACATCGT	0.582000														6			26		0	0	0.00047179	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573706	140573706	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:140573706C>T	uc003lix.3	+	0	1755	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCTTTCGAGTTCCGCG	0.692000														77			34		0	0	0.00058488	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401460	77401460	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr16:77401460C>T	uc002ffc.4	-	3	1075	c.656G>A	c.(655-657)gGc>gAc	p.G219D	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	219					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G219V(2)|p.G216_G219del(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCGGCCAGAGCCGGGGTAGCC	0.547000														31			10		0	0	6.40141e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	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					2			53		0	0	0.000147903	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481316	142481317	+	Missense_Mutation	DNP	TG	CA	CA	rs140068138	by1000genomes	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:142481316_142481317TG>CA	uc011ksq.2	+	2	473_474	c.390_391TG>CA	c.(388-393)actgcc>acCAcc	p.A131T	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CTCTGCCCACTGCCCCTCCAGC	0.550000														32			7		0	0	6.4e-05	0	0
ODZ1	10178	broad.mit.edu	37	X	123587303	123587303	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:123587303C>T	uc010nqy.3	-	22	4052	c.3988G>A	c.(3988-3990)Gat>Aat	p.D1330N	ODZ1_uc011muj.2_Missense_Mutation_p.D1329N|ODZ1_uc004euj.3_Missense_Mutation_p.D1323N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1323					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ATAGTCCCATCCACAAAGTAA	0.428000														49			25		0	0	0.000586117	0	0
RNF130	55819	broad.mit.edu	37	5	179393941	179393941	+	Silent	SNP	G	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:179393941G>T	uc003mll.1	-	6	1422	c.1015C>A	c.(1015-1017)Cga>Aga	p.R339R	RNF130_uc003mlm.1_Silent_p.R339R	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	339					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGATCTTCGGTTAACAGCT	0.507000														99			6		0.000157383	0.00421	0.000157383	1	0
BRWD3	254065	broad.mit.edu	37	X	79978275	79978275	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:79978275C>T	uc004edt.3	-	16	1925	c.1662G>A	c.(1660-1662)caG>caA	p.Q554Q	BRWD3_uc004edp.3_Silent_p.Q383Q|BRWD3_uc004edq.3_Silent_p.Q150Q|BRWD3_uc010nmj.2_Silent_p.Q150Q|BRWD3_uc004edr.3_Silent_p.Q224Q|BRWD3_uc004eds.3_Silent_p.Q150Q|BRWD3_uc004edo.3_Silent_p.Q150Q|BRWD3_uc004edu.3_Silent_p.Q224Q|BRWD3_uc004edv.3_Silent_p.Q150Q|BRWD3_uc004edw.3_Silent_p.Q150Q|BRWD3_uc004edx.3_Silent_p.Q150Q|BRWD3_uc004edy.3_Silent_p.Q150Q|BRWD3_uc004edz.3_Silent_p.Q224Q|BRWD3_uc004eea.3_Silent_p.Q224Q|BRWD3_uc004eeb.3_Silent_p.Q150Q	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	554										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GGAAGAACATCTGATCTGGAA	0.373000														27			24		0	0	9.22233e-05	0	0
CST4	1472	broad.mit.edu	37	20	23669384	23669384	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr20:23669384C>T	uc002wto.1	-	0	279	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	75						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCCACCTGCTCCCTGGCTCGC	0.597000														35			16		0	0	0.000308642	0	0
KIAA0319	9856	broad.mit.edu	37	6	24578408	24578408	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr6:24578408C>T	uc011djo.2	-	8	1935	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	KIAA0319_uc011djp.2_Missense_Mutation_p.E434K|KIAA0319_uc003neh.1_Missense_Mutation_p.E479K|KIAA0319_uc011djq.1_Missense_Mutation_p.E470K|KIAA0319_uc011djr.1_Missense_Mutation_p.E479K|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	479	PKD 2.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTCTTCTCTTCTATGAAGGGC	0.393000														36			24		0	0	0.000375601	0	0
C12orf54	121273	broad.mit.edu	37	12	48888647	48888647	+	Silent	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:48888647G>A	uc001rrr.3	+	7	440	c.309G>A	c.(307-309)gaG>gaA	p.E103E	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	103										endometrium(1)|large_intestine(4)	5						GCTCTGGAGAGCAGCCATCAG	0.473000														58			98		0	0	0.000147903	0	0
COL22A1	169044	broad.mit.edu	37	8	139697492	139697492	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr8:139697492C>T	uc003yvd.3	-	37	3373	c.2926G>A	c.(2926-2928)Ggg>Agg	p.G976R	COL22A1_uc011ljo.2_Missense_Mutation_p.G276R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	976	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGGAGCCCAGGAGCACCA	0.582000										HNSCC(7;0.00092)				36			6		0	0	8.12818e-05	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														40			9		0	0	3.86212e-05	0	0
CACNA1B	774	broad.mit.edu	37	9	140870378	140870378	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr9:140870378C>T	uc004cog.3	+	11	1708	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	CACNA1B_uc022bqn.1_Silent_p.F521F|CACNA1B_uc011mfd.2_Silent_p.F123F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	521					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGTTTGTTTTCCTGGGTCTCT	0.562000														18			10		0	0	6.40141e-05	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663087	+	RNA	DNP	TA	GG	GG	rs1054158	by1000genomes	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr22:22663086_22663087TA>GG	uc021wml.1	+	30		c.2444_2445TA>GG			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCTT	0.302000														9			5		0	0	6.4e-05	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917534	65917534	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr15:65917534C>T	uc010ujf.2	+	1	1403	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	SLC24A1_uc010ujd.1_Silent_p.S372S|SLC24A1_uc010uje.1_Silent_p.S372S|SLC24A1_uc010ujg.2_Silent_p.S372S|SLC24A1_uc010ujh.2_Silent_p.S372S	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	372					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGAAACCTTCCACAGCACCCA	0.557000														26			14		0	0	0.000219431	0	0
IL5RA	3568	broad.mit.edu	37	3	3144437	3144437	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:3144437C>T	uc011ask.2	-	4	794	c.150G>A	c.(148-150)tgG>tgA	p.W50*	IL5RA_uc010hbq.3_Nonsense_Mutation_p.W50*|IL5RA_uc010hbr.3_Nonsense_Mutation_p.W50*|IL5RA_uc010hbs.3_Nonsense_Mutation_p.W50*|IL5RA_uc011asl.2_Nonsense_Mutation_p.W50*|IL5RA_uc011asm.1_Nonsense_Mutation_p.W50*|IL5RA_uc010hbt.2_Nonsense_Mutation_p.W50*|IL5RA_uc011asn.1_Nonsense_Mutation_p.W50*|IL5RA_uc010hbu.2_Nonsense_Mutation_p.W50*	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	50					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GATTTGGTTTCCATTGTAAAA	0.333000														32			14		0	0	0.000151284	0	0
EZH1	2145	broad.mit.edu	37	17	40861891	40861891	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:40861891G>A	uc010wgu.2	-	11	1520	c.1484C>T	c.(1483-1485)cCc>cTc	p.P495L	EZH1_uc002iaz.3_Missense_Mutation_p.P489L|EZH1_uc002iba.3_Missense_Mutation_p.P480L|EZH1_uc010wgt.2_Missense_Mutation_p.P419L|EZH1_uc010wgv.2_Missense_Mutation_p.P449L|EZH1_uc010wgw.2_Missense_Mutation_p.P350L|EZH1_uc010cyp.2_Missense_Mutation_p.P390L|EZH1_uc010cyq.2_Missense_Mutation_p.P406L|EZH1_uc010cyo.1_Missense_Mutation_p.P152L|EZH1_uc010cyr.1_Missense_Mutation_p.P141L	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	489					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTTCTGTGAGGGGTTCATGAG	0.483000														40			47		0	0	0.000147903	0	0
ACRC	93953	broad.mit.edu	37	X	70823635	70823635	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:70823635G>A	uc004eae.2	+	7	1009	c.508G>A	c.(508-510)Gac>Aac	p.D170N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	170	Asp/Ser-rich.					nucleus		p.D170D(1)|p.P169P(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAACAG	0.502000														130			93		0	0	0.000147903	0	0
ABCB1	5243	broad.mit.edu	37	7	87179329	87179329	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:87179329C>T	uc003uiz.2	-	13	1885	c.1392G>A	c.(1390-1392)agG>agA	p.R464R	ABCB1_uc011khc.2_Silent_p.R400R	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	464	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCCGTAGAAACCTTACATTTA	0.408000														53			34		0	0	0.00058488	0	0
ZHX2	22882	broad.mit.edu	37	8	123965169	123965169	+	Silent	SNP	C	T	T	rs148698137	byFrequency	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr8:123965169C>T	uc022bag.1	+	0	1419	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	ZHX2_uc003ypk.1_Silent_p.I473I	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	473	Required for interaction with NFYA.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCGGCTCATCGAGGTGACTG	0.557000														12			9		0	0	0.000274275	0	0
MOCOS	55034	broad.mit.edu	37	18	33800069	33800069	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr18:33800069A>G	uc002kzq.4	+	8	1872	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	617					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CCGGAGCTGGATGGTTGTGAA	0.537000														60			36		0	0	0.000270559	0	0
HTR2A	3356	broad.mit.edu	37	13	47469888	47469888	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr13:47469888G>A	uc010acr.3	-	1	843	c.154C>T	c.(154-156)Cga>Tga	p.R52*	HTR2A_uc001vbr.3_Intron	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	52					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGGTTGGTTCGATTTTCAGAG	0.443000														51			40		0	0	0.000374591	0	0
DISP1	84976	broad.mit.edu	37	1	223176194	223176195	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:223176194_223176195CG>AT	uc001hnu.2	+	9	1781_1782	c.1455_1456CG>AT	c.(1453-1458)accggg>acATgg	p.G486W		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	486	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTACCATCACCGGGATTGAGTT	0.426000														561			17		0	0	6.4e-05	0	0
ACSL5	51703	broad.mit.edu	37	10	114186028	114186028	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr10:114186028G>A	uc001kzu.3	+	18	2030	c.1918G>A	c.(1918-1920)Gga>Aga	p.G640R	ACSL5_uc001kzs.3_Missense_Mutation_p.G584R|ACSL5_uc001kzt.3_Missense_Mutation_p.G584R|ACSL5_uc009xxz.3_Missense_Mutation_p.G584R|ACSL5_uc010qrj.2_Missense_Mutation_p.G366R	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	584					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATCCTTAGTAGGAGTGGTGGT	0.448000														7			33		0	0	0.000319135	0	0
NTRK1	4914	broad.mit.edu	37	1	156849015	156849015	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:156849015C>T	uc001fqh.1	+	14	1963	c.1907C>T	c.(1906-1908)gCg>gTg	p.A636V	NTRK1_uc001fqf.1_Missense_Mutation_p.A600V|NTRK1_uc009wsi.1_Missense_Mutation_p.A335V|NTRK1_uc001fqi.1_Missense_Mutation_p.A630V|NTRK1_uc009wsk.1_Missense_Mutation_p.A633V	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	636	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A636A(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAGGTCGCTGCGGGGATGGTG	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				19			12		0	0	0.00010058	0	0
RS1	6247	broad.mit.edu	37	X	18660162	18660162	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:18660162G>A	uc004cyo.3	-	5	672	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	CDKL5_uc004cym.3_Intron|CDKL5_uc004cyn.3_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	213	F5/8 type C.		R -> Q (in XLRS1).|R -> W (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		p.R213Q(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGCTCCATCCGGATGGCAATG	0.682000														46			31		0	0	0.000339439	0	0
TKT	7086	broad.mit.edu	37	3	53260800	53260800	+	Silent	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:53260800G>A	uc003dgo.3	-	12	1840	c.1668C>T	c.(1666-1668)atC>atT	p.I556I	TKT_uc003dgp.2_Silent_p.I188I|TKT_uc011beo.1_Silent_p.I509I|TKT_uc003dgq.3_Silent_p.I556I|TKT_uc011beq.2_Silent_p.I564I|TKT_uc011ber.2_Silent_p.I358I	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	556					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCACGGTGAGGATCCTGCCCT	0.587000														24			25		0	0	0.000375601	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110413798	110413798	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr8:110413798C>T	uc003yne.3	+	13	1458	c.1354C>T	c.(1354-1356)Cat>Tat	p.H452Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	452					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGATGATATTCATCTGCAGAA	0.318000										HNSCC(38;0.096)				13			11		0	0	0.000151284	0	0
WNK3	65267	broad.mit.edu	37	X	54263821	54263821	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:54263821G>A	uc004dtc.2	-	19	4617	c.4178C>T	c.(4177-4179)tCg>tTg	p.S1393L	WNK3_uc004dtd.2_Missense_Mutation_p.S1346L	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1346					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.S1393*(2)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATAAGAAAACGAAGTTTTTGG	0.378000														68			40		0	0	0.000270559	0	0
DOT1L	84444	broad.mit.edu	37	19	2226433	2226433	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr19:2226433G>A	uc002lvc.1	+	12	2562	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	DOT1L_uc002lvb.4_Missense_Mutation_p.G1305R	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1305						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGCTGACGGACTCAGCCC	0.677000														15			18		0	0	0.000132079	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														68			8		0	0	0.000442599	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130460844	130460844	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr6:130460844C>T	uc003qbt.3	+	22	2465	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	L3MBTL3_uc003qbu.3_Silent_p.F738F	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	763	SAM.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCAAAATTTTCAATTCCATCC	0.363000														31			22		0	0	0.000229342	0	0
RNF217	154214	broad.mit.edu	37	6	125397968	125397968	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr6:125397968C>T	uc003pzr.3	+	3	1276	c.742C>T	c.(742-744)Cct>Tct	p.P248S	RNF217_uc003pzs.3_Missense_Mutation_p.P191S|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	191					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CCCAGAGAGACCTCATTTAAG	0.448000														33			23		0	0	9.22233e-05	0	0
NUP205	23165	broad.mit.edu	37	7	135303182	135303182	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:135303182A>G	uc003vsw.3	+	27	3825	c.3794A>G	c.(3793-3795)tAt>tGt	p.Y1265C		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1265					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTACTTCAGTATGTGGTAGGA	0.393000														15			54		0	0	0.000147903	0	0
SCN5A	6331	broad.mit.edu	37	3	38639416	38639416	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:38639416C>T	uc021wvo.1	-	12	2118	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	SCN5A_uc021wvk.1_Missense_Mutation_p.R689H|SCN5A_uc021wvl.1_Missense_Mutation_p.R689H|SCN5A_uc021wvm.1_Missense_Mutation_p.R689H|SCN5A_uc021wvn.1_Missense_Mutation_p.R689H|SCN5A_uc021wvp.1_Missense_Mutation_p.R689H|SCN5A_uc021wvq.1_Missense_Mutation_p.R689H|SCN5A_uc021wvr.1_Missense_Mutation_p.R689H|SCN5A_uc021wvs.1_Missense_Mutation_p.R689H|SCN5A_uc021wvt.1_Missense_Mutation_p.R689H|SCN5A_uc021wvu.1_Missense_Mutation_p.R689H|SCN5A_uc021wvv.1_Missense_Mutation_p.R689H|SCN5A_uc021wvj.1_Missense_Mutation_p.R555H|SCN5A_uc021wvi.1_Missense_Mutation_p.R555H|SCN5A_uc021wvw.1_Missense_Mutation_p.R300H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	689					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGGCGAGACGGTTCCAGCA	0.537000														47			42		0	0	0.000147903	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139755	142139755	+	Silent	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:142139755G>A	uc003vyt.3	-	0	61	c.16C>T	c.(16-18)Cta>Tta	p.L6L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACCCAGCATAGGAGACTGGTG	0.537000														8			41		0	0	0.000147903	0	0
TBX4	9496	broad.mit.edu	37	17	59557471	59557471	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:59557471C>T	uc010ddo.3	+	7	975	c.812C>T	c.(811-813)tCc>tTc	p.S271F	TBX4_uc002izi.3_Missense_Mutation_p.S271F|TBX4_uc010woy.2_Missense_Mutation_p.S271F	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	271					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCGTGATTTCCAAAAGCATC	0.597000														46			40		0	0	0.000270559	0	0
PLXNB3	5365	broad.mit.edu	37	X	153040478	153040478	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:153040478G>A	uc010nuk.2	+	24	4415	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	PLXNB3_uc004fii.2_Missense_Mutation_p.E1359K|PLXNB3_uc011mzd.1_Missense_Mutation_p.E998K|PLXNB3_uc004fij.1_Non-coding_Transcript|SRPK3_uc004fik.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1359					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCAGGGGAGGACGGCCA	0.687000														16			14		0	0	0.000308642	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657592	1657592	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:1657592C>T	uc002ftk.1	+	9	1317	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	SERPINF2_uc010vqr.1_Missense_Mutation_p.P350S|SERPINF2_uc021tnm.1_Missense_Mutation_p.P414S	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	414					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CGTGAACCGCCCCTTCCTCTT	0.647000														53			45		0	0	0.000147903	0	0
MARCO	8685	broad.mit.edu	37	2	119750795	119750795	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:119750795G>A	uc002tln.1	+	15	1480	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	MARCO_uc010yyf.1_Missense_Mutation_p.E372K	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	450	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.D449D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTGCGATGACGAGTGGCAAAA	0.532000														68			34		0	0	0.000132358	0	0
DDX54	79039	broad.mit.edu	37	12	113612529	113612529	+	Silent	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:113612529G>A	uc001tuq.4	-	9	1012	c.984C>T	c.(982-984)ctC>ctT	p.L328L	DDX54_uc001tup.3_Silent_p.L328L	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	328	Helicase C-terminal.				RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGCAGGTGGAGCAGCACGG	0.652000											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			21		0	0	0.000229342	0	0
ABCC3	8714	broad.mit.edu	37	17	48741454	48741454	+	Silent	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:48741454G>A	uc002isl.3	+	9	1400	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A	ABCC3_uc002isk.4_Silent_p.A440A|ABCC3_uc002ism.3_Missense_Mutation_p.D153N	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	440	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCATCCTGGCGATCTACTTCC	0.552000														46			32		0	0	0.00058488	0	0
OR4C3	256144	broad.mit.edu	37	11	48346646	48346646	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr11:48346646C>T	uc010rhv.2	+	0	154	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ACAGAGAGTTCTCTTTGTGGT	0.473000														52			32		0	0	0.000227799	0	0
FRG1	2483	broad.mit.edu	37	4	190876268	190876268	+	Missense_Mutation	SNP	A	G	G	rs145193566	by1000genomes	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr4:190876268A>G	uc003izs.3	+	4	585	c.394A>G	c.(394-396)Att>Gtt	p.I132V		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	132					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.I132T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTCAGATGCAATTGGACCAAG	0.358000														92			5		0	0	0.000274275	0	0
TSEN2	80746	broad.mit.edu	37	3	12558112	12558112	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:12558112C>T	uc003bxc.3	+	6	1299	c.912C>T	c.(910-912)gcC>gcT	p.A304A	TSEN2_uc003bwz.3_Silent_p.A245A|TSEN2_uc003bxa.3_Silent_p.A278A|TSEN2_uc011auq.1_Silent_p.A278A|TSEN2_uc003bxb.3_Silent_p.A304A|TSEN2_uc011aur.1_Silent_p.A213A	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	304					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ATTTTCAGGCCTTTTTCTTGG	0.333000														398			218		0	0	0.000147903	0	0
XYLB	9942	broad.mit.edu	37	3	38417659	38417660	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:38417659_38417660CC>TT	uc003cic.2	+	12	1165_1166	c.1056_1057CC>TT	c.(1054-1059)tcccgt>tcTTgt	p.R353C	XYLB_uc011ayp.1_Missense_Mutation_p.R216C|XYLB_uc003cid.1_Missense_Mutation_p.R275C	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	353					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AGTCTGTATCCCGTTCCTGGAG	0.559000														79			46		0	0	6.4e-05	0	0
CPXM2	119587	broad.mit.edu	37	10	125539769	125539769	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr10:125539769G>A	uc001lhk.1	-	6	1217	c.892C>T	c.(892-894)Cct>Tct	p.P298S	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	298					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TAATTATTAGGATCTAGGGAC	0.468000														20			48		0	0	0.000125731	0	0
TTBK1	84630	broad.mit.edu	37	6	43227378	43227378	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr6:43227378G>A	uc003ouq.1	+	11	1637	c.1358G>A	c.(1357-1359)aGg>aAg	p.R453K		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	453						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R452Q(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CGCTACCGGAGGGTGAACAGC	0.682000														7			5		0	0	3.59834e-05	0	0
TEX26	122046	broad.mit.edu	37	13	31549009	31549009	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr13:31549009C>T	uc001uti.3	+	6	854	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	279																	TCGCTTTATTCGTACTCACTG	0.303000														15			7		0	0	0.000274275	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240164	132240164	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:132240164G>A	uc002tsu.4	+	4	1289	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	366					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGTCCCCGGGGGAGACCTGGC	0.577000														38			21		0	0	0.000147802	0	0
TTN	7273	broad.mit.edu	37	2	179435636	179435636	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:179435636G>A	uc021vsy.1	-	274	67744	c.67519C>T	c.(67519-67521)Cac>Tac	p.H22507Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H16202Y|TTN_uc021vta.1_Missense_Mutation_p.H16135Y|TTN_uc021vtb.1_Missense_Mutation_p.H16010Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23434	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATATCTGTGATCTTCAACT	0.423000														66			44		0	0	0.000509022	0	0
COL1A1	1277	broad.mit.edu	37	17	48268796	48268796	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:48268796C>T	uc002iqm.3	-	31	2309	c.2183G>A	c.(2182-2184)gGa>gAa	p.G728E		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	728	Triple-helical region.		G -> R (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGGCATTCCCTGAAGGCC	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							38			30		0	0	0.000491102	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619553	64619553	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:64619553G>T	uc003dmg.3	-	12	1891	c.1859C>A	c.(1858-1860)cCa>cAa	p.P620Q	ADAMTS9_uc011bfo.2_Missense_Mutation_p.P592Q|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P449Q|ADAMTS9_uc003dmk.1_Missense_Mutation_p.P620Q	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	620	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACCATTTTTTGGTCTGAAAAA	0.403000														104			71		6.66389e-18	1.81386e-16	0.000147903	1	0
CEACAM5	1048	broad.mit.edu	37	19	42222066	42222066	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr19:42222066C>T	uc002orl.3	+	5	1378	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	CEACAM5_uc002orj.1_Silent_p.T418T	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	419	Ig-like 5.					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)		ACGACCCCACCATTTCCCCCT	0.542000														35			17		0	0	0.000229342	0	0
SPRR4	163778	broad.mit.edu	37	1	152944374	152944374	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:152944374C>T	uc001fav.1	+	1	71	c.8C>T	c.(7-9)tCc>tTc	p.S3F	SPRR4_uc021ozm.1_Missense_Mutation_p.S3F	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	3					keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAATGTCTTCCcagcagcag	0.532000														39			40		0	0	0.000159656	0	0
ARID2	196528	broad.mit.edu	37	12	46233249	46233249	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:46233249C>T	uc001ros.1	+	10	1468	c.1468C>T	c.(1468-1470)Caa>Taa	p.Q490*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q490*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q117*|ARID2_uc001rot.1_Nonsense_Mutation_p.Q136*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.V489V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAGCAAGTCCAAACCCAGAC	0.403000			"""N, S, F"""		hepatocellular carcinoma									11			53		0	0	0.000147903	0	0
OR4X1	390113	broad.mit.edu	37	11	48286113	48286114	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr11:48286113_48286114CC>TA	uc010rht.2	+	0	701_702	c.701_702CC>TA	c.(700-702)gcc>gTA	p.A234V		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CAGCACAAGGCCCTCTCCACCT	0.545000														39			28		0	0	6.4e-05	0	0
HTR1A	3350	broad.mit.edu	37	5	63256815	63256815	+	Silent	SNP	T	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:63256815T>A	uc011cqt.2	-	0	732	c.732A>T	c.(730-732)gcA>gcT	p.A244A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	244				A -> AA (in Ref. 8).	behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GGGCGGGAGATGCTCCATGGC	0.632000														34			19		0	0	0.000586117	0	0
SFPQ	6421	broad.mit.edu	37	1	35656521	35656521	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:35656521G>A	uc001bys.3	-	2	1186	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	365	RRM 1.				DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GTGGCAAAGCGAACTCGAAGC	0.443000			T	TFE3	papillary renal cell									11			25		0	0	0.00047179	0	0
VCAN	1462	broad.mit.edu	37	5	82817330	82817330	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:82817330G>A	uc003kii.3	+	6	3561	c.3205G>A	c.(3205-3207)Gat>Aat	p.D1069N	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.D1069N|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1069	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAAGAGGGCGATGGATCAGC	0.463000														22			20		0	0	0.000375601	0	0
GPR179	440435	broad.mit.edu	37	17	36499248	36499248	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:36499248G>A	uc002hpz.3	-	0	446	c.425C>T	c.(424-426)cCa>cTa	p.P142L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	142						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)				GTACACTCTTGGGTCCCCCTC	0.622000														24			16		0	0	0.000422831	0	0
TCF20	6942	broad.mit.edu	37	22	42609063	42609064	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr22:42609063_42609064GG>TT	uc003bcj.1	-	0	2382_2383	c.2248_2249CC>AA	c.(2248-2250)cca>AAa	p.P750K	TCF20_uc003bck.1_Missense_Mutation_p.P750K	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGGAGGCTTGGGAATTTTTCA	0.505000														150			8		0	0	6.4e-05	0	0
FLG	2312	broad.mit.edu	37	1	152277111	152277111	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:152277111C>T	uc001ezu.1	-	2	10287	c.10251G>A	c.(10249-10251)caG>caA	p.Q3417Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3417	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTCGTGCCTGCTCGTGGT	0.602000									Ichthyosis					99			74		0	0	0.000147903	0	0
XDH	7498	broad.mit.edu	37	2	31588332	31588332	+	Silent	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:31588332G>A	uc002rnv.1	-	22	2614	c.2535C>T	c.(2533-2535)gcC>gcT	p.A845A		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	845					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTTGTATCTGGCCAGGAAGG	0.577000														10			53		0	0	0.000147903	0	0
FLG	2312	broad.mit.edu	37	1	152283563	152283563	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:152283563C>T	uc001ezu.1	-	2	3835	c.3799G>A	c.(3799-3801)Gga>Aga	p.G1267R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1267	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACACTGGATCCCTGGTGCCTG	0.557000									Ichthyosis					89			68		0	0	0.000147903	0	0
ANK3	288	broad.mit.edu	37	10	62029942	62029942	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr10:62029942C>T	uc001jky.3	-	4	798	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	ANK3_uc010qih.2_Missense_Mutation_p.E137K|ANK3_uc001jkz.4_Missense_Mutation_p.E148K|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	154					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGACAACTTCCAGGTGATTT	0.408000														9			34		0	0	0.000191422	0	0
CD163	9332	broad.mit.edu	37	12	7640410	7640410	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:7640410C>T	uc001qsz.3	-	6	1822	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	CD163_uc001qta.3_Missense_Mutation_p.G565E|CD163_uc009zfw.2_Missense_Mutation_p.G565E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	565	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G565R(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCTACAAGTTCCTTCTGGGCG	0.498000														45			30		0	0	0.000184323	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107511	107511	+	RNA	SNP	A	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrGL000211.1:107511A>T	uc003boa.3	+	4		c.1051A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATGCAAATTATTTTGAAATA	0.279000														25			4		0	0	0.000602214	0	0
SPACA7	122258	broad.mit.edu	37	13	113053480	113053480	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr13:113053480C>T	uc001vsd.2	+	3	391	c.342C>T	c.(340-342)tcC>tcT	p.S114S		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	114						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TCAAAATTTCCAATGATGGTA	0.438000														14			11		0	0	0.00010058	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517978	138517978	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr9:138517978A>C	uc010nbd.1	-	3	448	c.194T>G	c.(193-195)gTc>gGc	p.V65G		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	65					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TTTTTCCAGGACCCGCCTGTC	0.493000														39			4		0	0	3.86212e-05	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884663	22884663	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr8:22884663C>T	uc003xcu.2	-	6	1212	c.919G>A	c.(919-921)Gag>Aag	p.E307K	TNFRSF10B_uc003xcs.1_Missense_Mutation_p.E72K|TNFRSF10B_uc011kzq.1_Missense_Mutation_p.E127K|TNFRSF10B_uc003xcv.2_Missense_Mutation_p.E205K|TNFRSF10B_uc003xct.2_Missense_Mutation_p.E278K	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	307					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGCTCTGACTCCCCGGGGGAC	0.562000														23			15		0	0	0.000308642	0	0
FBXO15	201456	broad.mit.edu	37	18	71749192	71749192	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr18:71749192C>T	uc002llf.2	-	8	1313	c.1233G>A	c.(1231-1233)tgG>tgA	p.W411*	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Nonsense_Mutation_p.W335*	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	335										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TATCAGTTTTCCACGAGAGGC	0.294000														16			17		0	0	7.07596e-05	0	0
UNC13D	201294	broad.mit.edu	37	17	73824968	73824968	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:73824968C>T	uc002jpp.3	-	30	3431	c.3051G>A	c.(3049-3051)gaG>gaA	p.E1017E		NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	1017	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGGAAGGCCTCGCCTTCCA	0.706000									Familial Hemophagocytic Lymphohistiocytosis					8			7		0	0	0.000157383	0	0
COX10	1352	broad.mit.edu	37	17	14110342	14110342	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:14110342C>T	uc002gof.4	+	6	1348	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	COX10_uc010vvs.2_Missense_Mutation_p.P165S|COX10_uc010vvt.2_Missense_Mutation_p.P190S	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	382					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		ATGGACCTTCCCCATCATGGC	0.657000														37			39		0	0	0.000191422	0	0
DNAH3	55567	broad.mit.edu	37	16	20952783	20952783	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr16:20952783G>A	uc010vbe.2	-	58	11594	c.11594C>T	c.(11593-11595)cCc>cTc	p.P3865L	DNAH3_uc010vbd.2_Missense_Mutation_p.P1300L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3865					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATAGACCACGGGGTACAACTT	0.483000														103			96		0	0	0.000147903	0	0
APBA2	321	broad.mit.edu	37	15	29346627	29346627	+	Silent	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr15:29346627G>A	uc001zck.3	+	2	744	c.540G>A	c.(538-540)caG>caA	p.Q180Q	APBA2_uc010azj.2_Silent_p.Q180Q|APBA2_uc010uat.2_Silent_p.Q180Q|APBA2_uc001zcl.3_Silent_p.Q180Q|APBA2_uc010uas.1_Silent_p.Q180Q	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	180				DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCATGACCAGGAAGAAGATG	0.652000														17			12		0	0	0.00010058	0	0
SLIT3	6586	broad.mit.edu	37	5	168199840	168199840	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:168199840G>A	uc010jjg.3	-	13	1825	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	SLIT3_uc003mab.3_Nonsense_Mutation_p.R469*|SLIT3_uc010jji.2_Nonsense_Mutation_p.R469*|SLIT3_uc003mac.1_Nonsense_Mutation_p.R266*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	469	LRRCT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.R469*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGCGAGTCGGCGCGGGCTG	0.602000														24			28		0	0	0.000117367	0	0
OR8I2	120586	broad.mit.edu	37	11	55861122	55861122	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr11:55861122C>T	uc010rix.2	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGAGTGTTTCCTTCTGGGAT	0.428000														26			16		0	0	0.000308642	0	0
SLC6A11	6538	broad.mit.edu	37	3	10970933	10970933	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:10970933C>T	uc003bvz.3	+	9	1313	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	427					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGACATGTACCCCAAGGTTTT	0.547000														83			57		0	0	0.000147903	0	0
MFSD2A	84879	broad.mit.edu	37	1	40431577	40431577	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:40431577G>A	uc001cev.3	+	5	825	c.644G>A	c.(643-645)gGa>gAa	p.G215E	MFSD2A_uc010ojb.1_Missense_Mutation_p.G165E|MFSD2A_uc001ceu.3_Missense_Mutation_p.G202E|MFSD2A_uc010ojc.2_Missense_Mutation_p.G46E|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	215					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCGATCCAGGGACAAATCGTG	0.562000														10			23		0	0	0.000117367	0	0
CPAMD8	27151	broad.mit.edu	37	19	17100547	17100547	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr19:17100547C>T	uc002nfb.3	-	12	1474	c.1442G>A	c.(1441-1443)gGg>gAg	p.G481E		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	434						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTACTGAGCCCCCACAGGCTT	0.602000														16			9		0	0	0.000442599	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481278	142481278	+	Missense_Mutation	SNP	G	A	A	rs143782230	by1000genomes	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:142481278G>A	uc011ksq.2	+	2	435	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.									p.V118F(1)									CACACCTGCCGTCATCAATGC	0.542000														49			9		0	0	0.000219431	0	0
F8	2157	broad.mit.edu	37	X	154225248	154225249	+	Splice_Site	DNP	CC	AA	AA	rs137852387		TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:154225248_154225249CC>AA	uc004fmt.3	-	3	559	c.388_splice	c.e3+1	p.G130_splice	F8_uc011mzx.1_Splice_Site_p.G95_splice	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	130	F5/8 type A 1.|Plastocyanin-like 1.		G -> R (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTTACTCACCCTCAGAAGCTT	0.421000														138			8		0	0	6.4e-05	0	0
ABHD1	84696	broad.mit.edu	37	2	27351972	27351972	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:27351972C>T	uc002rit.3	+	2	595	c.435C>T	c.(433-435)aaC>aaT	p.N145N	ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Non-coding_Transcript	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA.	145						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTAGTTAACCAAGCTCTGA	0.537000														5			23		0	0	0.000586117	0	0
PCLO	27445	broad.mit.edu	37	7	82584475	82584475	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:82584475G>A	uc003uhx.2	-	4	6083	c.5794C>T	c.(5794-5796)Cca>Tca	p.P1932S	PCLO_uc003uhv.2_Missense_Mutation_p.P1932S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1863					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCAGCTGGAAAAGCTTTG	0.358000														38			36		0	0	0.000491102	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885348	88885348	+	Silent	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr8:88885348G>A	uc003ydz.3	-	0	949	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	284								p.F284F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ATGACACCAGGAATTGGCCAT	0.498000														28			27		0	0	0.000147802	0	0
RBM5	10181	broad.mit.edu	37	3	50131285	50131285	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:50131285C>T	uc003cyg.3	+	3	491	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S	RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript|RBM5_uc003cyf.3_Missense_Mutation_p.P106S|RBM5_uc011bdj.2_Missense_Mutation_p.P50S|RBM5_uc011bdk.2_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	106	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGCGGCCTTCCCATCACCAT	0.483000														66			45		0	0	0.000147903	0	0
SNTG2	54221	broad.mit.edu	37	2	1241704	1241704	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:1241704G>A	uc002qwq.3	+	9	893	c.764G>A	c.(763-765)gGg>gAg	p.G255E	SNTG2_uc010ewi.3_Missense_Mutation_p.G128E	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	255					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTCAGCTCTGGGATCCTCCGG	0.652000														2			9		0	0	3.86212e-05	0	0
IGFL1	374918	broad.mit.edu	37	19	46733596	46733596	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr19:46733596G>A	uc002pee.3	+	2	168	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	Homo sapiens IGF-like family member 1 (IGFL1), mRNA.	49						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		CAAGTTCTACGACCCCCTGCA	0.572000														60			50		0	0	0.000147903	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766968	64766968	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:64766968C>T	uc003jtp.3	-	3	912	c.98_splice	c.e3-1	p.E33_splice	ADAMTS6_uc003jto.3_Splice_Site|ADAMTS6_uc003jtq.3_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	33					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCAGGAATTCCTCTTTGTAAT	0.338000														24			25		0	0	9.22233e-05	0	0
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	T	T	rs121913292		TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr10:89692904C>T	uc001kfb.3	+	4	1420	c.388C>T	c.(388-390)Cga>Tga	p.R130*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403000	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				13			38		0	0	0.000319135	0	0
AGXT2	64902	broad.mit.edu	37	5	35035412	35035412	+	Silent	SNP	A	G	G			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:35035412A>G	uc003jjf.3	-	4	739	c.496T>C	c.(496-498)Ttg>Ctg	p.L166L	AGXT2_uc011com.2_Silent_p.L166L|AGXT2_uc011con.2_Silent_p.L74L	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	166					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CTGTTCACCAAGAAAATGACC	0.468000														115			71		0	0	0.000147903	0	0
BCL11A	53335	broad.mit.edu	37	2	60688288	60688288	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:60688288C>T	uc002sae.1	-	3	1987	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	BCL11A_uc002sab.3_Missense_Mutation_p.E587K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E256K|BCL11A_uc010ypj.2_Missense_Mutation_p.E553K|BCL11A_uc002sad.1_Missense_Mutation_p.E435K|BCL11A_uc002saf.1_Missense_Mutation_p.E553K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	587					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACCGAGTCTTCGTCGCAAGTG	0.672000			T	IGH@	B-CLL									24			80		0	0	0.000147903	0	0
NDFIP1	80762	broad.mit.edu	37	5	141515366	141515366	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:141515366C>T	uc003lmi.4	+	3	570	c.354C>T	c.(352-354)ttC>ttT	p.F118F	NDFIP1_uc003lmj.1_Intron	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.	118					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endosome membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGATTTTCATGTTAACTT	0.353000														62			45		0	0	0.000147903	0	0
MYOM1	8736	broad.mit.edu	37	18	3188758	3188758	+	Silent	SNP	G	C	C			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr18:3188758G>C	uc002klp.3	-	3	1093	c.759C>G	c.(757-759)tcC>tcG	p.S253S	MYOM1_uc002klq.3_Silent_p.S253S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	253						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTTCCTCAGGGACAGGCGTT	0.423000														10			11		0	0	3.86212e-05	0	0
AACS	65985	broad.mit.edu	37	12	125626733	125626733	+	Silent	SNP	C	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:125626733C>T	uc001uhc.3	+	17	2183	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	AACS_uc001uhd.3_Missense_Mutation_p.P592S|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.T257T	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	659					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ACCCCGAGACCCTGGATCTGT	0.567000														11			19		0	0	0.000132079	0	0
EFNB3	1949	broad.mit.edu	37	17	7612773	7612773	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:7612773G>A	uc002gis.3	+	4	1299	c.902G>A	c.(901-903)gGg>gAg	p.G301E		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	301					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CGGGGTGGCGGGGCTGCAGAT	0.662000														20			21		0	0	0.000375601	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962063	10962063	+	Silent	SNP	G	A	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:10962063G>A	uc001qyx.3	-	0	705	c.612C>T	c.(610-612)tcC>tcT	p.S204S	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	204					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTCTAACTAGGGAGAAAAGTA	0.458000														9			11		0	0	6.40141e-05	0	0
C11orf84	144097	broad.mit.edu	37	11	63586326	63586327	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr11:63586326_63586327CC>TT	uc001nxt.3	+	4	1022_1023	c.786_787CC>TT	c.(784-789)gtccga>gtTTga	p.R263*		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	Homo sapiens chromosome 11 open reading frame 84 (C11orf84), mRNA.	263										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGCCGAGGTCCGACACTTCAC	0.624000														45			23		0	0	6.4e-05	0	0
OR4K5	79317	broad.mit.edu	37	14	20389211	20389211	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr14:20389211G>T	uc010tkw.2	+	0	446	c.446G>T	c.(445-447)tGg>tTg	p.W149L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGATCTCCTGGGCTGTGAGC	0.438000														58			50		2.27781e-18	6.2549e-17	0.000147903	1	0
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	-	-			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:53529193_53529195delGAT	uc003dgv.4	+	0					CACNA1D_uc003dgu.4_Start_Codon_Del|CACNA1D_uc003dgy.4_Start_Codon_Del	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													---	82	---	---	7	---					
FREM2	341640	broad.mit.edu	37	13	39261568	39261570	+	In_Frame_Del	DEL	GCT	-	-			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr13:39261568_39261570delGCT	uc001uwv.3	+	0	396_398	c.87_89delGCT	c.(85-90)cggctg>cgg	p.L38del		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	38					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGCCGCCCCGgctgctgctgctg	0.695													---	4	---	---	2	---					
