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
HIST1H1E	3008	broad.mit.edu	37	6	26156708	26156708	+	Silent	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:26156708G>C	uc003ngq.3	+	0	150	c.90G>C	c.(88-90)gcG>gcC	p.A30A	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	30					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G29D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTGCAGGTGCGGCCAAGCGCA	0.642000													47	72					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058637	67058637	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:67058637T>C	uc003dmy.3	+	3	1687	c.1634T>C	c.(1633-1635)gTt>gCt	p.V545A	KBTBD8_uc011bfv.2_Missense_Mutation_p.V103A	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	545										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CAAGTGACTGTTGAAGAACAC	0.403000													9	79					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52913586	52913586	+	Silent	SNP	C	C	T	rs61726459		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:52913586C>T	uc001san.3	-	0	658	c.495G>A	c.(493-495)agG>agA	p.R165R	KRT5_uc009zmh.3_Silent_p.R165R	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	165	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCTCGGTCCTCACCCTCT	0.522000													7	148					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61759152	61759152	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr17:61759152C>T	uc002jbe.3	+	8	688	c.622C>T	c.(622-624)Cct>Tct	p.P208S	MAP3K3_uc002jbf.3_Missense_Mutation_p.P208S|MAP3K3_uc002jbg.3_Missense_Mutation_p.P177S|MAP3K3_uc002jbh.3_Missense_Mutation_p.P208S|MAP3K3_uc010wpo.2_Missense_Mutation_p.P92S|MAP3K3_uc010wpp.2_Missense_Mutation_p.P177S	NM_203351	NP_976226	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 1, mRNA.	177					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGAAGCTCACCTCCCCCTGG	0.607000													43	62					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503596	40503596	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr18:40503596T>A	uc002lav.3	-	3	540	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	RIT2_uc010dnf.3_Missense_Mutation_p.T123S	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	123					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTCATAGGTGTGGCGGACC	0.493000													64	111					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908178	48908178	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:48908178G>A	uc002pjc.4	+	2	741	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	218						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.R218C(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGGGAGCACCGCGGAGCGCTG	0.682000													10	131					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15430321	15430321	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:15430321T>C	uc003stb.1	-	7	967	c.797A>G	c.(796-798)aAt>aGt	p.N266S		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	266					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTCAAATGTATTAATGGGATG	0.289000													56	69					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093666	43093666	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:43093666C>G	uc002oud.2	-	2	748	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	216	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TTCTGTATTTCACATTCATAG	0.537000													4	235					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133880376	133880376	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr8:133880376C>T	uc003ytw.3	+	1	125	c.84C>T	c.(82-84)gcC>gcT	p.A28A		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	28					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTGGATGCCCAGCCCCTTC	0.547000													13	37					0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62198473	62198473	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr20:62198473C>T	uc002yfm.2	-	6	3130	c.2238G>A	c.(2236-2238)acG>acA	p.T746T	PRIC285_uc002yfl.1_Silent_p.T177T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	746					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAATGGCGTCCGTGCAGCGGT	0.662000													39	72					0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201362461	201362461	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:201362461A>G	uc002uvu.1	-	4	810	c.676T>C	c.(676-678)Ttt>Ctt	p.F226L	KCTD18_uc002uvs.3_Intron|KCTD18_uc002uvt.3_Intron	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGAAATAAAAGAATTGCACT	0.323000													3	174					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:198949565G>A	uc010fsp.3	+	1	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_uc002uuv.4_Missense_Mutation_p.V363I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	442	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408000													38	30					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622520	180622520	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:180622520C>T	uc003mmz.1	-	6	1249	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S	TRIM7_uc003mmv.1_Silent_p.S212S|TRIM7_uc003mmw.1_Silent_p.S186S|TRIM7_uc003mmy.1_Silent_p.S186S|TRIM7_uc003mmx.1_Silent_p.S186S	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	394	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GATGCCGGCCCGAGGAGAAGC	0.706000													8	58					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2594035	2594035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr20:2594035C>T	uc010zpw.1	+	11	1860	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	TMC2_uc002wgf.1_Intron|TMC2_uc002wgg.1_Intron|TMC2_uc010zpx.1_Nonsense_Mutation_p.Q478*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	0						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TACTTATAGCCAGATGCATTC	0.413000													22	24					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89856412	89856412	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:89856412G>T	uc010len.3	+	3	1126	c.620G>T	c.(619-621)cGa>cTa	p.R207L	STEAP2_uc003ujy.2_Missense_Mutation_p.R249L|STEAP2_uc003uka.3_Missense_Mutation_p.R207L|STEAP2_uc003ujz.3_Missense_Mutation_p.R207L|STEAP2_uc003ukc.3_Missense_Mutation_p.R207L|STEAP2_uc003ukb.3_Missense_Mutation_p.R207L|STEAP2_uc003ukd.3_Missense_Mutation_p.R207L	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	207					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTACCCCTACGACTCTTTACT	0.438000													24	37					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20355366	20355366	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr16:20355366G>A	uc002dhb.3	-	6	1539	c.1410C>T	c.(1408-1410)acC>acT	p.T470T	UMOD_uc002dgz.3_Silent_p.T437T|UMOD_uc002dha.3_Silent_p.T437T	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	437	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCTGTAGGGCGGTCTTCAGGC	0.537000													22	43					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777419	183777419	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:183777419C>T	uc003fmk.3	+	6	950	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	306						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGGCACCCCCCTCATCAG	0.582000													10	133					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15513524	15513524	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:15513524C>T	uc003nbj.3	+	15	3565	c.3321C>T	c.(3319-3321)tcC>tcT	p.S1107S	JARID2_uc011div.2_Silent_p.S935S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1107					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCACTCCTCCGCACGCTATG	0.637000													15	14					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280733	238280733	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:238280733C>A	uc002vwl.2	-	8	4212	c.3927G>T	c.(3925-3927)caG>caT	p.Q1309H	COL6A3_uc002vwo.2_Missense_Mutation_p.Q1103H|COL6A3_uc010znj.1_Missense_Mutation_p.Q702H|COL6A3_uc002vwq.3_Missense_Mutation_p.Q1103H|COL6A3_uc002vwr.3_Missense_Mutation_p.Q902H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1309	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1308W(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCACGTTGATCTGCCGCCCTC	0.617000													26	80					0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34659885	34659885	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr9:34659885A>C	uc003zvi.3	+	8	2296	c.940A>C	c.(940-942)Act>Cct	p.T314P	IL11RA_uc011loq.2_Missense_Mutation_p.T314P|IL11RA_uc003zvj.3_Missense_Mutation_p.T314P|IL11RA_uc003zvk.3_Missense_Mutation_p.T314P|IL11RA_uc010mke.3_Missense_Mutation_p.T196P	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	314						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GGCCTGGGGAACTCCGAGCAC	0.592000													16	29					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35875685	35875685	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:35875685G>C	uc003jjs.3	+	6	961	c.872G>C	c.(871-873)aGa>aCa	p.R291T	IL7R_uc011coo.2_Missense_Mutation_p.E260Q|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	291					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAGAAACCAAGAAAAGTGAGT	0.413000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						11	20					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552224	47552224	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr21:47552224G>A	uc002zia.1	+	27	2900	c.2818G>A	c.(2818-2820)Gca>Aca	p.A940T	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	940	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGGAGGCACGCAGAGCTGTC	0.657000													9	19					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104100607	104100607	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:104100607G>T	uc001tjw.3	+	37	4220	c.4034G>T	c.(4033-4035)tGc>tTc	p.C1345F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1345	Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCCCCCAATGCCAGCCCTGC	0.547000													21	45					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293827	71293827	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:71293827G>A	uc001oqu.3	-	0	95	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	19						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACTGCCGGAGCCACAGC	0.632000													18	68					0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132158517	132158517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:132158517G>A	uc003kxx.3	-	9	3335	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	SHROOM1_uc003kxy.2_Nonsense_Mutation_p.Q839*	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	844					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGGCGGCTGAACTGGAGGA	0.622000													15	17					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943779	1943779	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:1943779C>T	uc001qjt.2	+	4	1811	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.Y335Y|LRTM2_uc010sdx.1_Silent_p.Y335Y|LRTM2_uc001qjv.2_Silent_p.Y97Y	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	335						integral to membrane		p.Y335Y(4)|p.I334F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTGCATCTACGCCTCCCTCA	0.637000													40	40					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128058	147128058	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:147128058G>A	uc003ewe.3	+	0	878	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	53					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S53L(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACCCCAGTTCGCACGAGCTGG	0.721000													22	33					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559327	140559327	+	Missense_Mutation	SNP	C	C	T	rs141057693		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:140559327C>T	uc011dai.2	+	0	1957	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	571	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGCTCCGCGCCCTGCACC	0.716000													45	184					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	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				23	34					0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124121061	124121061	+	Silent	SNP	C	C	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:124121061C>A	uc001pzx.3	+	0	639	c.639C>A	c.(637-639)acC>acA	p.T213T		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CCAGCCTGACCATCCTTTGCT	0.458000													31	30					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27157925	27157925	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr9:27157925G>A	uc003zqi.4	+	1	591	c.149G>A	c.(148-150)cGc>cAc	p.R50H	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.R50H|TEK_uc011lno.2_Missense_Mutation_p.R50H|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.R27H	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	50	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R50H(1)|p.W49*(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTGGGTGGCGCCCCCATGAG	0.502000													50	81					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86838596	86838596	+	Silent	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr15:86838596G>C	uc002blz.1	+	15	2273	c.2193G>C	c.(2191-2193)acG>acC	p.T731T	AGBL1_uc002bma.1_Silent_p.T462T|AGBL1_uc002bmb.1_Silent_p.T425T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	731					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.T731T(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGACCATCACGGCCATGCCTG	0.498000													3	69					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769085	247769085	+	Silent	SNP	C	C	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr1:247769085C>G	uc010pyz.2	+	0	198	c.198C>G	c.(196-198)ctC>ctG	p.L66L		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCAGCAACCTCTCTTTACTGG	0.458000													4	324					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94858951	94858951	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:94858951C>A	uc003klb.3	-	17	2009	c.1712G>T	c.(1711-1713)gGa>gTa	p.G571V	TTC37_uc010jbf.2_Missense_Mutation_p.G523V	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	571							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATAGTATAGTCCTCGCCTAAG	0.393000													45	78					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156708	26156708	+	Silent	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr6:26156708G>C	uc003ngq.3	+	0	150	c.90G>C	c.(88-90)gcG>gcC	p.A30A	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	30					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G29D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTGCAGGTGCGGCCAAGCGCA	0.642000													47	72					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058637	67058637	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr3:67058637T>C	uc003dmy.3	+	3	1687	c.1634T>C	c.(1633-1635)gTt>gCt	p.V545A	KBTBD8_uc011bfv.2_Missense_Mutation_p.V103A	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	545										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CAAGTGACTGTTGAAGAACAC	0.403000													9	79					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52913586	52913586	+	Silent	SNP	C	C	T	rs61726459		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr12:52913586C>T	uc001san.3	-	0	658	c.495G>A	c.(493-495)agG>agA	p.R165R	KRT5_uc009zmh.3_Silent_p.R165R	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	165	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCTCGGTCCTCACCCTCT	0.522000													7	148					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61759152	61759152	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr17:61759152C>T	uc002jbe.3	+	8	688	c.622C>T	c.(622-624)Cct>Tct	p.P208S	MAP3K3_uc002jbf.3_Missense_Mutation_p.P208S|MAP3K3_uc002jbg.3_Missense_Mutation_p.P177S|MAP3K3_uc002jbh.3_Missense_Mutation_p.P208S|MAP3K3_uc010wpo.2_Missense_Mutation_p.P92S|MAP3K3_uc010wpp.2_Missense_Mutation_p.P177S	NM_203351	NP_976226	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 1, mRNA.	177					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGAAGCTCACCTCCCCCTGG	0.607000													43	62					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503596	40503596	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr18:40503596T>A	uc002lav.3	-	3	540	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	RIT2_uc010dnf.3_Missense_Mutation_p.T123S	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	123					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTCATAGGTGTGGCGGACC	0.493000													64	111					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908178	48908178	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr19:48908178G>A	uc002pjc.4	+	2	741	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	218						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.R218C(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGGGAGCACCGCGGAGCGCTG	0.682000													10	131					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15430321	15430321	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr7:15430321T>C	uc003stb.1	-	7	967	c.797A>G	c.(796-798)aAt>aGt	p.N266S		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	266					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTCAAATGTATTAATGGGATG	0.289000													56	69					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093666	43093666	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr19:43093666C>G	uc002oud.2	-	2	748	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	216	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TTCTGTATTTCACATTCATAG	0.537000													4	235					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133880376	133880376	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr8:133880376C>T	uc003ytw.3	+	1	125	c.84C>T	c.(82-84)gcC>gcT	p.A28A		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	28					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTGGATGCCCAGCCCCTTC	0.547000													13	37					0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62198473	62198473	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr20:62198473C>T	uc002yfm.2	-	6	3130	c.2238G>A	c.(2236-2238)acG>acA	p.T746T	PRIC285_uc002yfl.1_Silent_p.T177T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	746					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAATGGCGTCCGTGCAGCGGT	0.662000													39	72					0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201362461	201362461	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr2:201362461A>G	uc002uvu.1	-	4	810	c.676T>C	c.(676-678)Ttt>Ctt	p.F226L	KCTD18_uc002uvs.3_Intron|KCTD18_uc002uvt.3_Intron	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGAAATAAAAGAATTGCACT	0.323000													3	174					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr2:198949565G>A	uc010fsp.3	+	1	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_uc002uuv.4_Missense_Mutation_p.V363I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	442	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408000													38	30					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622520	180622520	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr5:180622520C>T	uc003mmz.1	-	6	1249	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S	TRIM7_uc003mmv.1_Silent_p.S212S|TRIM7_uc003mmw.1_Silent_p.S186S|TRIM7_uc003mmy.1_Silent_p.S186S|TRIM7_uc003mmx.1_Silent_p.S186S	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	394	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GATGCCGGCCCGAGGAGAAGC	0.706000													8	58					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2594035	2594035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr20:2594035C>T	uc010zpw.1	+	11	1860	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	TMC2_uc002wgf.1_Intron|TMC2_uc002wgg.1_Intron|TMC2_uc010zpx.1_Nonsense_Mutation_p.Q478*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	0						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TACTTATAGCCAGATGCATTC	0.413000													22	24					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89856412	89856412	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr7:89856412G>T	uc010len.3	+	3	1126	c.620G>T	c.(619-621)cGa>cTa	p.R207L	STEAP2_uc003ujy.2_Missense_Mutation_p.R249L|STEAP2_uc003uka.3_Missense_Mutation_p.R207L|STEAP2_uc003ujz.3_Missense_Mutation_p.R207L|STEAP2_uc003ukc.3_Missense_Mutation_p.R207L|STEAP2_uc003ukb.3_Missense_Mutation_p.R207L|STEAP2_uc003ukd.3_Missense_Mutation_p.R207L	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	207					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTACCCCTACGACTCTTTACT	0.438000													24	37					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20355366	20355366	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr16:20355366G>A	uc002dhb.3	-	6	1539	c.1410C>T	c.(1408-1410)acC>acT	p.T470T	UMOD_uc002dgz.3_Silent_p.T437T|UMOD_uc002dha.3_Silent_p.T437T	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	437	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCTGTAGGGCGGTCTTCAGGC	0.537000													22	43					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777419	183777419	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr3:183777419C>T	uc003fmk.3	+	6	950	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	306						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGGCACCCCCCTCATCAG	0.582000													10	133					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15513524	15513524	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr6:15513524C>T	uc003nbj.3	+	15	3565	c.3321C>T	c.(3319-3321)tcC>tcT	p.S1107S	JARID2_uc011div.2_Silent_p.S935S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1107					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCACTCCTCCGCACGCTATG	0.637000													15	14					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280733	238280733	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr2:238280733C>A	uc002vwl.2	-	8	4212	c.3927G>T	c.(3925-3927)caG>caT	p.Q1309H	COL6A3_uc002vwo.2_Missense_Mutation_p.Q1103H|COL6A3_uc010znj.1_Missense_Mutation_p.Q702H|COL6A3_uc002vwq.3_Missense_Mutation_p.Q1103H|COL6A3_uc002vwr.3_Missense_Mutation_p.Q902H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1309	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1308W(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCACGTTGATCTGCCGCCCTC	0.617000													26	80					0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34659885	34659885	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr9:34659885A>C	uc003zvi.3	+	8	2296	c.940A>C	c.(940-942)Act>Cct	p.T314P	IL11RA_uc011loq.2_Missense_Mutation_p.T314P|IL11RA_uc003zvj.3_Missense_Mutation_p.T314P|IL11RA_uc003zvk.3_Missense_Mutation_p.T314P|IL11RA_uc010mke.3_Missense_Mutation_p.T196P	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	314						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GGCCTGGGGAACTCCGAGCAC	0.592000													16	29					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35875685	35875685	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr5:35875685G>C	uc003jjs.3	+	6	961	c.872G>C	c.(871-873)aGa>aCa	p.R291T	IL7R_uc011coo.2_Missense_Mutation_p.E260Q|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	291					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAGAAACCAAGAAAAGTGAGT	0.413000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						11	20					0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1152973	1152973	+	Silent	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr1:1152973G>T	uc001adh.4	-	6	1337	c.1008C>A	c.(1006-1008)ccC>ccA	p.P336P	SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_3'UTR|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	336	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCACCTCCTCGGGCTCCAGGT	0.642000													4	77					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552224	47552224	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr21:47552224G>A	uc002zia.1	+	27	2900	c.2818G>A	c.(2818-2820)Gca>Aca	p.A940T	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	940	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGGAGGCACGCAGAGCTGTC	0.657000													9	19					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104100607	104100607	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr12:104100607G>T	uc001tjw.3	+	37	4220	c.4034G>T	c.(4033-4035)tGc>tTc	p.C1345F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1345	Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCCCCCAATGCCAGCCCTGC	0.547000													21	45					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293827	71293827	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr11:71293827G>A	uc001oqu.3	-	0	95	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	19						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACTGCCGGAGCCACAGC	0.632000													18	68					0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132158517	132158517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr5:132158517G>A	uc003kxx.3	-	9	3335	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	SHROOM1_uc003kxy.2_Nonsense_Mutation_p.Q839*	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	844					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGGCGGCTGAACTGGAGGA	0.622000													15	17					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943779	1943779	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr12:1943779C>T	uc001qjt.2	+	4	1811	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.Y335Y|LRTM2_uc010sdx.1_Silent_p.Y335Y|LRTM2_uc001qjv.2_Silent_p.Y97Y	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	335						integral to membrane		p.Y335Y(4)|p.I334F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTGCATCTACGCCTCCCTCA	0.637000													40	40					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128058	147128058	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr3:147128058G>A	uc003ewe.3	+	0	878	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	53					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S53L(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACCCCAGTTCGCACGAGCTGG	0.721000													22	33					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559327	140559327	+	Missense_Mutation	SNP	C	C	T	rs141057693		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr5:140559327C>T	uc011dai.2	+	0	1957	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	571	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGCTCCGCGCCCTGCACC	0.716000													45	184					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	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				23	34					0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124121061	124121061	+	Silent	SNP	C	C	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr11:124121061C>A	uc001pzx.3	+	0	639	c.639C>A	c.(637-639)acC>acA	p.T213T		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CCAGCCTGACCATCCTTTGCT	0.458000													31	30					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27157925	27157925	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr9:27157925G>A	uc003zqi.4	+	1	591	c.149G>A	c.(148-150)cGc>cAc	p.R50H	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.R50H|TEK_uc011lno.2_Missense_Mutation_p.R50H|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.R27H	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	50	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R50H(1)|p.W49*(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTGGGTGGCGCCCCCATGAG	0.502000													50	81					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86838596	86838596	+	Silent	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr15:86838596G>C	uc002blz.1	+	15	2273	c.2193G>C	c.(2191-2193)acG>acC	p.T731T	AGBL1_uc002bma.1_Silent_p.T462T|AGBL1_uc002bmb.1_Silent_p.T425T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	731					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.T731T(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGACCATCACGGCCATGCCTG	0.498000													3	69					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769085	247769085	+	Silent	SNP	C	C	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr1:247769085C>G	uc010pyz.2	+	0	198	c.198C>G	c.(196-198)ctC>ctG	p.L66L		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCAGCAACCTCTCTTTACTGG	0.458000													4	324					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94858951	94858951	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr5:94858951C>A	uc003klb.3	-	17	2009	c.1712G>T	c.(1711-1713)gGa>gTa	p.G571V	TTC37_uc010jbf.2_Missense_Mutation_p.G523V	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	571							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATAGTATAGTCCTCGCCTAAG	0.393000													45	78					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033047	52033049	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:52033047_52033049delCTT	uc002pwy.3	-	4	1149_1151	c.941_943delAAG	c.(940-945)gaagga>gga	p.E314del	SIGLEC6_uc002pwz.3_In_Frame_Del_p.E298del|SIGLEC6_uc010ydb.2_In_Frame_Del_p.E262del|SIGLEC6_uc010ydc.2_In_Frame_Del_p.E325del|SIGLEC6_uc002pxa.3_In_Frame_Del_p.E314del|SIGLEC6_uc010eoz.2_In_Frame_Del_p.E303del|SIGLEC6_uc010epa.2_In_Frame_Del_p.E303del|SIGLEC6_uc010epb.2_In_Frame_Del_p.E267del	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	314	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGAAATCTCCTTCTTCTGCAGA	0.601													32	56	---	---	---	---					
SIGLEC6	946	broad.mit.edu	37	19	52033047	52033049	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr19:52033047_52033049delCTT	uc002pwy.3	-	4	1149_1151	c.941_943delAAG	c.(940-945)gaagga>gga	p.E314del	SIGLEC6_uc002pwz.3_In_Frame_Del_p.E298del|SIGLEC6_uc010ydb.2_In_Frame_Del_p.E262del|SIGLEC6_uc010ydc.2_In_Frame_Del_p.E325del|SIGLEC6_uc002pxa.3_In_Frame_Del_p.E314del|SIGLEC6_uc010eoz.2_In_Frame_Del_p.E303del|SIGLEC6_uc010epa.2_In_Frame_Del_p.E303del|SIGLEC6_uc010epb.2_In_Frame_Del_p.E267del	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	314	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGAAATCTCCTTCTTCTGCAGA	0.601													32	56	---	---	---	---