Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BRCA2	675	broad.mit.edu	37	13	32915060	32915060	+	Missense_Mutation	SNP	G	G	A	rs80358888		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr13:32915060G>A	ENST00000544455.1	+	11	6795	c.6568G>A	c.(6568-6570)Gta>Ata	p.V2190I	BRCA2_ENST00000380152.3_Missense_Mutation_p.V2190I	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2190					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACCTAAAAACGTAAAAATGGA	0.323000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			3	43					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	159021848	159021848	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:159021848C>A	ENST00000295809.7	+	10	2300	c.2045C>A	c.(2044-2046)aCt>aAt	p.T682N	IFI16_ENST00000368131.4_Missense_Mutation_p.T626N|IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000359709.3_Missense_Mutation_p.T626N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000368132.3_Missense_Mutation_p.T626N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	682	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGCTCACAAACTAAAGGAAGT	0.393000													36	54					3.62531e-18	3.89721e-18	1	1	0
CES1P1	0	broad.mit.edu	37	16	55794587	55794587	+	RNA	SNP	G	G	T	rs151262919	by1000genomes	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr16:55794587G>T	ENST00000571348.1	+	0	77					NR_003276.2																						GGCCACTCTCGCTGCTTCCGC	0.597000													5	21					3.59834e-05	3.68401e-05	1	1	0
LRRC27	80313	broad.mit.edu	37	10	134165159	134165159	+	Missense_Mutation	SNP	G	G	A	rs147065829		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:134165159G>A	ENST00000392638.2	+	8	1265	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000368614.3_Silent_p.P325P|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000475747.1_3'UTR			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527000													4	214					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85946826	85946826	+	Silent	SNP	G	G	A	rs146360039	byFrequency	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr16:85946826G>A	ENST00000268638.5	+	5	959	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	179					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACTGGTGGGCGCAGCAGCCCA	0.617000													3	47					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597000	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			26	54					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200724	128200724	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr3:128200724G>A	ENST00000341105.2	-	5	1412	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	GATA2_ENST00000430265.2_Missense_Mutation_p.R347C|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.R361C	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	361					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GCGTTTCGGCGCCATAAGGTG	0.657000			Mis		AML(CML blast transformation)								3	56					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78061450	78061450	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:78061450C>G	ENST00000397545.4	+	15	2521	c.2494C>G	c.(2494-2496)Cac>Gac	p.H832D	CCDC40_ENST00000374877.3_Missense_Mutation_p.H832D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	832					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GATCGAGCACCACATGAAGGA	0.542000													6	19					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													5	38					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658642	55658642	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:55658642G>C	ENST00000449290.2	+	7	985	c.893G>C	c.(892-894)aGt>aCt	p.S298T	TRIM51_ENST00000244891.3_Missense_Mutation_p.S155T	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	298	B30.2/SPRY.					intracellular	zinc ion binding										AGAGCCAATAGTCATATCTTC	0.333000													28	45					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183093828	183093828	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:183093828G>A	ENST00000258341.4	+	14	2721	c.2464G>A	c.(2464-2466)Gtg>Atg	p.V822M		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	822	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAACGGCCCTGTGAGACTTTG	0.498000													36	61					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57133976	57133976	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr18:57133976T>C	ENST00000439986.4	-	5	585	c.548A>G	c.(547-549)gAc>gGc	p.D183G	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	183					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTTACCAGTGTCATTGGGATA	0.398000													30	114					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34924043	34924043	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr21:34924043T>G	ENST00000356577.4	+	3	2981	c.2506T>G	c.(2506-2508)Tta>Gta	p.L836V	SON_ENST00000300278.4_Missense_Mutation_p.L836V|SON_ENST00000381679.4_Missense_Mutation_p.L836V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.L836V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	836	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTCCCAGATGTTAGCAACCAG	0.507000													89	169					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	159021837	159021837	+	Silent	SNP	T	T	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:159021837T>G	ENST00000295809.7	+	10	2289	c.2034T>G	c.(2032-2034)ctT>ctG	p.L678L	IFI16_ENST00000368131.4_Silent_p.L622L|IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000359709.3_Silent_p.L622L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000368132.3_Silent_p.L622L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	678	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAATCAGCTTTGCTCACAAA	0.403000													35	53					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104984612	104984612	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chrX:104984612C>A	ENST00000372582.1	+	8	1732	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L326M	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	326	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAAGCTGACCTGGCGAATTA	0.398000													48	19					8.00217e-19	8.8229e-19	1	1	0
SEPT4	5414	broad.mit.edu	37	17	56598656	56598656	+	Missense_Mutation	SNP	C	C	T	rs139843357	byFrequency	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:56598656C>T	ENST00000457347.2	-	10	1262	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q	SEPT4_ENST00000579371.1_Missense_Mutation_p.R259Q|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Missense_Mutation_p.R350Q|SEPT4_ENST00000393086.1_Missense_Mutation_p.R339Q|SEPT4_ENST00000317256.6_Missense_Mutation_p.R339Q|SEPT4_ENST00000317268.3_Missense_Mutation_p.R358Q|SEPT4_ENST00000583114.1_Missense_Mutation_p.R211Q|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580844.1_Missense_Mutation_p.R259Q	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	358					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGAACTCGCCGCCCTCTGGC	0.577000											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	53					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													4	61					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540777	55540777	+	Silent	SNP	T	T	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr8:55540777T>A	ENST00000220676.1	+	4	4483	c.4335T>A	c.(4333-4335)tcT>tcA	p.S1445S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1445					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACGGACTTCTGAAGAACCAG	0.343000													22	51					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73765715	73765715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:73765715G>T	ENST00000373115.4	+	2	552	c.115G>T	c.(115-117)Gaa>Taa	p.E39*		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	39					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	p.E39*(1)		endometrium(1)|lung(5)	6						TGTCTTCATCGAAAAGGAAAA	0.483000													4	112					0.00024832	0.00024832	1	1	0
CTBP2	1488	broad.mit.edu	37	10	126682486	126682486	+	Silent	SNP	T	T	C	rs76949963	by1000genomes	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:126682486T>C	ENST00000309035.6	-	6	2599	c.2469A>G	c.(2467-2469)caA>caG	p.Q823Q	CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617000													4	113					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37488331	37488331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:37488331C>T	ENST00000455427.2	+	9	1875	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAACTTGTTCGACATCAAAA	0.443000													3	8					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33855189	33855189	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr15:33855189G>A	ENST00000389232.4	+	11	1194	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	RYR3_ENST00000415757.3_Missense_Mutation_p.R375H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	375	MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R375H(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAACTTCCCGCCTGGGACCT	0.448000													34	53					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33581437	33581437	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:33581437C>T	ENST00000321505.4	+	6	3287	c.3107C>T	c.(3106-3108)cCg>cTg	p.P1036L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P1042L|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P1042L					KIAA1549-like									p.P1042L(1)									CTCACCTATCCGCCGCTAACC	0.562000													4	203					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237285745	237285745	+	Splice_Site	SNP	C	C	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr2:237285745C>A	ENST00000409907.3	-	13	1836		c.e13+1		IQCA1_ENST00000431676.2_Splice_Site|IQCA1_ENST00000309507.5_Splice_Site			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1								ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TGTGTACTCACCAATGTAATC	0.418000													22	28					3.01185e-09	3.15877e-09	1	1	0
PVRL2	5819	broad.mit.edu	37	19	45377223	45377223	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:45377223C>T	ENST00000252483.5	+	4	826	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	PVRL2_ENST00000252485.4_Missense_Mutation_p.R276C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	276	Ig-like C2-type 2.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTACCTCGGCCGTACTGATGC	0.602000													30	51					0	0	1	0	0
PTGIR	0	broad.mit.edu	37	19	47124854	47124854	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:47124854C>T	ENST00000291294.2	-	3	977	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	PTGIR_ENST00000597185.1_Missense_Mutation_p.A11T|PTGIR_ENST00000594275.1_Missense_Mutation_p.A39T|PTGIR_ENST00000598865.1_Missense_Mutation_p.A70T	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	282					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GGGTTGAAGGCGTAGAAGCGG	0.632000													21	25					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745759	77745759	+	Silent	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr2:77745759G>A	ENST00000409088.3	-	3	1650	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	LRRTM4_ENST00000409911.1_Silent_p.G413G|LRRTM4_ENST00000409093.1_Silent_p.G412G|LRRTM4_ENST00000409884.1_Silent_p.G412G|LRRTM4_ENST00000409282.1_Silent_p.G413G	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	412						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTTGCTCTGCGCCAGGAATCT	0.473000													3	40					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													5	69					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2566835	2566835	+	Silent	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr12:2566835C>T	ENST00000399655.1	+	5	985	c.720C>T	c.(718-720)cgC>cgT	p.R240R	CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R|CACNA1C_ENST00000347598.4_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	240					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGCCTTCCGCGTGCTGCGCC	0.552000													20	217					0	0	1	0	0
LILRA2	0	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647000													4	76					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11532900	11532900	+	Splice_Site	SNP	C	C	T	rs141702885	by1000genomes	TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:11532900C>T	ENST00000262442.3	+	7	1585	c.1518_splice	c.e7+1	p.T506_splice	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Splice_Site_p.T506_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	506	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCAAAGCACGGTAGGGTTG	0.507000													4	43					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382965	22382965	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr15:22382965C>T	ENST00000328795.4	+	1	584	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTCATCCTCCGCTTGCCTTT	0.517000													5	160					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9864259	9864259	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr11:9864259G>A	ENST00000256190.8	-	25	3306	c.3169C>T	c.(3169-3171)Cgg>Tgg	p.R1057W	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1057					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAATATTGCCGCCCAATTGTC	0.368000													4	96					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297963	197297963	+	Missense_Mutation	SNP	C	C	T	rs62635651		TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:197297963C>T	ENST00000367400.3	+	2	617	c.482C>T	c.(481-483)gCc>gTc	p.A161V	CRB1_ENST00000538660.1_Missense_Mutation_p.A161V|CRB1_ENST00000535699.1_Missense_Mutation_p.A92V|CRB1_ENST00000367399.2_Missense_Mutation_p.A161V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	161	EGF-like 4; calcium-binding (Potential).		A -> V (in RP12).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAAAATGGGGCCGTGTGCCAG	0.507000													7	26					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887029	25887029	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr10:25887029G>A	ENST00000376351.3	+	11	2833	c.2474G>A	c.(2473-2475)aGa>aAa	p.R825K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	825						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GACCACGTGAGAGACCAAACG	0.493000													16	61					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26902441	26902441	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr17:26902441A>G	ENST00000226253.4	-	2	585	c.110T>C	c.(109-111)gTa>gCa	p.V37A	ALDOC_ENST00000395319.3_Missense_Mutation_p.V37A|ALDOC_ENST00000395321.2_Missense_Mutation_p.V37A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	37					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CCACTTACCTACAGACTCATC	0.567000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	41					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169580817	169580817	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr1:169580817A>G	ENST00000263686.6	-	7	1097	c.1060T>C	c.(1060-1062)Tgc>Cgc	p.C354R	SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C292R|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367786.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	354	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCGGGCTGGCACTCAAATTTA	0.552000													4	104					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38272123	38272123	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr8:38272123C>T	ENST00000447712.2	-	15	2943	c.2002G>A	c.(2002-2004)Gca>Aca	p.A668T	FGFR1_ENST00000532791.1_Missense_Mutation_p.A666T|FGFR1_ENST00000425967.3_Missense_Mutation_p.A699T|FGFR1_ENST00000397103.1_Missense_Mutation_p.A579T|FGFR1_ENST00000397113.2_Missense_Mutation_p.A666T|FGFR1_ENST00000356207.5_Missense_Mutation_p.A579T|FGFR1_ENST00000341462.5_Missense_Mutation_p.A668T|FGFR1_ENST00000335922.5_Missense_Mutation_p.A658T|FGFR1_ENST00000326324.6_Missense_Mutation_p.A577T|FGFR1_ENST00000397091.5_Missense_Mutation_p.A666T|FGFR1_ENST00000397108.4_Missense_Mutation_p.A666T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	668	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GCCTCGGGTGCCATCCACTTC	0.582000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						3	25					0	0	1	0	0
LILRA2	0	broad.mit.edu	37	19	55086927	55086927	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr19:55086927C>G	ENST00000251377.3	+	6	993	c.860C>G	c.(859-861)cCc>cGc	p.P287R	LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGTGAGCCCCTCCCACGGG	0.637000													4	73					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90571823	90571823	+	RNA	DEL	T	T	-			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chr6:90571823delT	ENST00000551025.1	+	0	1853							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ataatttaactttttttttta	0.284													2	4	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39932270	39932279	+	Frame_Shift_Del	DEL	GATGTAACTT	GATGTAACTT	-			TCGA-VN-A88N-01A-11D-A364-08	TCGA-VN-A88N-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d074f30a-3b97-4e7d-a291-576c573768e9	a8f14eb8-6c49-4824-95e3-5d14cfe55729	g.chrX:39932270_39932279delGATGTAACTT	ENST00000342274.4	-	4	2682_2691	c.2320_2329delAAGTTACATC	c.(2320-2331)cafs	p.KLHP774fs	BCOR_ENST00000378444.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KLHP774fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	774					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGACATCTGGATGTAACTTGGTGCTGCTA	0.524			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						71	58	---	---	---	---					
