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
CAMTA1	23261	broad.mit.edu	37	1	7811328	7811329	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:7811328_7811329insA	uc001aoi.3	+	19	4966_4967	c.4759_4760insA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_uc001aok.4_Frame_Shift_Ins_p.Q630fs|CAMTA1_uc001aoj.3_Frame_Shift_Ins_p.Q550fs|CAMTA1_uc009vmf.3_Frame_Shift_Ins_p.Q177fs	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1587	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTACTATGAACAAAAAAAATTC	0.470			T	WWTR1	epitheliod hemangioendothelioma							
SPRR1B	6699	broad.mit.edu	37	1	153004854	153004854	+	Silent	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:153004854C>G	uc001fba.3	+	1	97	c.33C>G	c.(31-33)acC>acG	p.T11T	SPRR1B_uc021ozp.1_Silent_p.T11T	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	11	2 X 12 AA approximate repeats.		T -> I (in dbSNP:rs3795382).		keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCTTGCACCCCACCCCCTC	0.557												
NUP210L	91181	broad.mit.edu	37	1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:154062058G>A	uc001fdw.3	-	15	2272	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423												
ATP1A4	480	broad.mit.edu	37	1	160136448	160136448	+	Missense_Mutation	SNP	G	G	A	rs139315814		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:160136448G>A	uc001fve.4	+	7	1657	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	393					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCCAGAACCGCATGACCGTC	0.577												
SELP	6403	broad.mit.edu	37	1	169562857	169562857	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:169562857C>T	uc001ggi.4	-	13	2458	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	SELP_uc001ggh.3_Intron|SELP_uc009wvr.3_Missense_Mutation_p.R797H	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	798					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	p.R798C(1)		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)	TTGTCTGAAACGCTTTCTTAG	0.423												
FMO3	2328	broad.mit.edu	37	1	171080061	171080061	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:171080061C>T	uc001ghi.3	+	5	861	c.750C>T	c.(748-750)gcC>gcT	p.A250A	FMO3_uc001ghh.3_Silent_p.A250A|FMO3_uc010pmb.2_Silent_p.A230A|FMO3_uc010pmc.2_Silent_p.A187A	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	250					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TACCGACAGCCATCTCTGACT	0.468												
TNN	63923	broad.mit.edu	37	1	175067712	175067712	+	Silent	SNP	C	C	T	rs150075962	by1000genomes	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:175067712C>T	uc001gkl.1	+	8	2213	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A	TNN_uc010pmx.1_Silent_p.A611A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	700	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A700A(4)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCAAGAAGGCCGACACCAAGG	0.572												
OR2T11	127077	broad.mit.edu	37	1	248790297	248790297	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:248790297A>G	uc001ier.1	-	0	133	c.133T>C	c.(133-135)Ttg>Ctg	p.L45L		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGAATCAAGAATATCATG	0.502												
C10orf47	254427	broad.mit.edu	37	10	11908649	11908649	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:11908649G>A	uc001ikx.3	+	2	412	c.258G>A	c.(256-258)gtG>gtA	p.V86V	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	86										central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						ATGGAGGAGTGTGCTGCCTCT	0.577												
PPYR1	5540	broad.mit.edu	37	10	47086808	47086808	+	Missense_Mutation	SNP	T	T	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:47086808T>A	uc001jee.3	+	2	444	c.25T>A	c.(25-27)Ttg>Atg	p.L9M	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.L9M|PPYR1_uc021ppu.1_Missense_Mutation_p.L9M	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	9					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCCTGGCCTTGCTGCTCCC	0.493												
PPYR1	5540	broad.mit.edu	37	10	47087737	47087737	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:47087737C>T	uc001jee.3	+	2	1373	c.954C>T	c.(952-954)aaC>aaT	p.N318N	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.N318N|PPYR1_uc021ppu.1_Silent_p.N318N	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	318					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCTGCGTCAACCCATTCATCT	0.572												
KIAA0913	23053	broad.mit.edu	37	10	75553915	75553915	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:75553915C>G	uc001jvj.3	+	12	2891	c.2636C>G	c.(2635-2637)gCa>gGa	p.A879G	KIAA0913_uc001jve.3_Missense_Mutation_p.A879G|KIAA0913_uc009xrl.3_Missense_Mutation_p.A879G|KIAA0913_uc001jvf.3_Missense_Mutation_p.A879G|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.A302G|KIAA0913_uc010qkr.2_Missense_Mutation_p.A302G	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	879							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					GTGAAGCTGGCATACCAGGAG	0.552												
EBF3	253738	broad.mit.edu	37	10	131755521	131755521	+	Splice_Site	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:131755521C>G	uc021qav.1	-	6	613	c.512_splice	c.e6+1	p.R171_splice	EBF3_uc001lki.2_Splice_Site_p.R185_splice	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	185					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTCATCCTTACCTGTCAATGA	0.423												
IFITM1	8519	broad.mit.edu	37	11	314253	314253	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:314253A>G	uc001loy.4	+	0	263	c.83A>G	c.(82-84)cAc>cGc	p.H28R		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	28					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCAACATCCACAGCGAGACC	0.582												
ZNF215	7762	broad.mit.edu	37	11	6977376	6977376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:6977376C>T	uc001mey.3	+	6	1756	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Nonsense_Mutation_p.R152*|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	390					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AGCCTTCTGCCGAAGTTCATC	0.393												
OR5P2	120065	broad.mit.edu	37	11	7818191	7818191	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:7818191G>A	uc001mfp.1	-	0	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGAAAGCCGCTGAACCAAG	0.483												
OR5I1	10798	broad.mit.edu	37	11	55703444	55703444	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:55703444G>A	uc010ris.2	-	0	433	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145W(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACAATCAACCGCATACAGATG	0.428												
FGD4	121512	broad.mit.edu	37	12	32763711	32763711	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:32763711A>G	uc010ske.2	+	9	1553	c.1469_splice	c.e9-1	p.K490_splice	FGD4_uc001rlc.3_Splice_Site_p.K463_splice|FGD4_uc001rky.3_Splice_Site_p.K130_splice|FGD4_uc001rkz.3_Splice_Site_p.K378_splice|FGD4_uc001rla.3_Splice_Site_p.K34_splice|FGD4_uc001rlb.1_Splice_Site	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	378	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CCCATTTAGAATCACTTGAAA	0.343												
KRT75	9119	broad.mit.edu	37	12	52818468	52818468	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:52818468C>T	uc001saj.2	-	8	1511	c.1489G>A	c.(1489-1491)Ggt>Agt	p.G497S		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	497	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGCCCCCACCGAGGCCCAGG	0.622												
KRT6B	3854	broad.mit.edu	37	12	52841572	52841572	+	Missense_Mutation	SNP	C	C	T	rs60627726		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:52841572C>T	uc001sak.3	-	6	1462	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	472	Coil 2.|Rod.		E -> K (in PC2; dbSNP:rs60627726).		ectoderm development	keratin filament	structural constituent of cytoskeleton	p.G471G(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCACTCCTCGCCCTCCAGC	0.597												
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:88566417delT	uc001tau.3	+	7	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	365						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313												
ANO4	121601	broad.mit.edu	37	12	101295584	101295584	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:101295584A>G	uc010svm.1	+	1	593	c.21A>G	c.(19-21)ggA>ggG	p.G7G	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Silent_p.G7G|ANO4_uc001thx.2_Silent_p.G7G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	7						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCTCTTCTGGAATCACTAATG	0.522										HNSCC(74;0.22)		
ACACB	32	broad.mit.edu	37	12	109629703	109629703	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:109629703G>A	uc001tob.3	+	14	2466	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	ACACB_uc001toc.3_Missense_Mutation_p.A783T	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	783					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTTGAACGTGGCCGATGCGAT	0.532												
VPS33A	65082	broad.mit.edu	37	12	122734578	122734578	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:122734578C>G	uc001ucd.3	-	5	728	c.615G>C	c.(613-615)atG>atC	p.M205I	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	205					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCCTGATCATCATATTGGCCA	0.383												
PARP4	143	broad.mit.edu	37	13	25052379	25052379	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:25052379T>C	uc001upl.3	-	12	1590	c.1484A>G	c.(1483-1485)gAt>gGt	p.D495G	PARP4_uc010tdc.2_Missense_Mutation_p.D495G	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	495	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTGGTGCCATCTGTCTCTCC	0.438												
NBEA	26960	broad.mit.edu	37	13	36124652	36124652	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:36124652G>A	uc021rid.1	+	41	7158	c.6624G>A	c.(6622-6624)atG>atA	p.M2208I	NBEA_uc021ric.1_Missense_Mutation_p.M2205I|NBEA_uc010abi.3_Missense_Mutation_p.M864I|NBEA_uc010tee.1_Missense_Mutation_p.M1I|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.M1I|NBEA_uc010teg.1_Missense_Mutation_p.M1I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2208						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAAATGGATGTTCAGCGAGA	0.363												
SLITRK1	114798	broad.mit.edu	37	13	84455093	84455093	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:84455093G>C	uc001vlk.3	-	0	1436	c.550C>G	c.(550-552)Ctc>Gtc	p.L184V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	184						integral to membrane		p.D183E(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTACCCCGGAGGTCGAGGTGG	0.532												
NALCN	259232	broad.mit.edu	37	13	101707744	101707744	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:101707744G>A	uc001vox.1	-	43	5309	c.5120C>T	c.(5119-5121)aCt>aTt	p.T1707I		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1707						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCGCGTCAGTCATGGGGTT	0.507												
OR4M1	441670	broad.mit.edu	37	14	20248846	20248846	+	Missense_Mutation	SNP	G	G	A	rs143164519	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:20248846G>A	uc010tku.2	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTATGACCGCTATGCTGCT	0.502												
SUPT16H	11198	broad.mit.edu	37	14	21826560	21826560	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:21826560C>T	uc001wao.2	-	19	2667	c.2328G>A	c.(2326-2328)ctG>ctA	p.L776L	SUPT16H_uc001wan.2_Splice_Site	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	776					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGGCTGTTTTCAGTTTGTGCC	0.378												
CTSG	1511	broad.mit.edu	37	14	25044566	25044566	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:25044566C>T	uc001wpq.3	-	1	145	c.108G>A	c.(106-108)gcG>gcA	p.A36A		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	36	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TCTGAAGATACGCCATGTAGG	0.572												
ANPEP	290	broad.mit.edu	37	15	90348339	90348339	+	Nonsense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr15:90348339G>C	uc002bop.4	-	3	1159	c.867C>G	c.(865-867)taC>taG	p.Y289*		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	289	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCTTCTCCACGTAGTCGAACT	0.567												
TPSD1	23430	broad.mit.edu	37	16	1306608	1306608	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr16:1306608C>T	uc002clb.1	+	1	183	c.174C>T	c.(172-174)cgC>cgT	p.R58R	TPSD1_uc010brm.1_5'UTR	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGAGAGTCCGCGGCCCATACT	0.697												
RBBP6	5930	broad.mit.edu	37	16	24552109	24552109	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr16:24552109A>G	uc002dmh.3	+	0	1202	c.162A>G	c.(160-162)aaA>aaG	p.K54K	RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.3_Silent_p.K54K|RBBP6_uc002dmi.3_Silent_p.K54K|RBBP6_uc010bxr.3_Silent_p.K54K|RBBP6_uc021tfl.1_Non-coding_Transcript	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	54	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGCAGACGAAAGAAGGTAAGG	0.517												
OR1A1	8383	broad.mit.edu	37	17	3119210	3119210	+	Missense_Mutation	SNP	C	C	T	rs144175148	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:3119210C>T	uc010vrc.2	+	0	296	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GGATGCCTAACGCAGATGTAT	0.488												
DNAH2	146754	broad.mit.edu	37	17	7679385	7679385	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:7679385G>A	uc002giu.1	+	29	4879	c.4865G>A	c.(4864-4866)cGg>cAg	p.R1622Q		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1622	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTGACCCTGCGGGACCTTCTC	0.627												
MYO15A	51168	broad.mit.edu	37	17	18047889	18047889	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:18047889G>A	uc021trm.1	+	27	6475	c.6256G>A	c.(6256-6258)Gtg>Atg	p.V2086M	MYO15A_uc021trl.1_Missense_Mutation_p.V2084M	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2086	MyTH4 1.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGAAGCCGTGAGCATCTT	0.607												
GPR179	440435	broad.mit.edu	37	17	36484987	36484987	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:36484987C>T	uc002hpz.3	-	10	4486	c.4465G>A	c.(4465-4467)Ggg>Agg	p.G1489R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1489						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATTTCCTGCCCCATCACGTTA	0.512												
PGAP3	93210	broad.mit.edu	37	17	37844120	37844120	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:37844120G>A	uc002hsj.3	-	0	191	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.R50C|PGAP3_uc002hsk.3_Missense_Mutation_p.R50C|PGAP3_uc010cvz.3_Missense_Mutation_p.R50C|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	50					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TGGCGGGAGCGGAAGTGATTC	0.657												
CLTC	1213	broad.mit.edu	37	17	57746279	57746279	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:57746279A>G	uc002ixr.1	+	13	2725	c.2282A>G	c.(2281-2283)gAg>gGg	p.E761G	CLTC_uc002ixp.3_Missense_Mutation_p.E757G|CLTC_uc002ixq.1_Missense_Mutation_p.E757G	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	757	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TACGATCCTGAGCGAGTCAAG	0.398			T	"""ALK, TFE3"""	"""ALCL, renal """							
GAA	2548	broad.mit.edu	37	17	78082609	78082609	+	Silent	SNP	G	G	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:78082609G>T	uc002jxp.3	+	7	1675	c.1308G>T	c.(1306-1308)cgG>cgT	p.R436R	GAA_uc002jxo.3_Silent_p.R436R|GAA_uc002jxq.3_Silent_p.R436R	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	436					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	AGGGCGGCCGGCGCTACATGA	0.642												
CEP76	79959	broad.mit.edu	37	18	12699056	12699056	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:12699056G>A	uc002kri.3	-	3	598	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	148					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTTAGAACGAAAACGTTGG	0.373												
MC5R	4161	broad.mit.edu	37	18	13826367	13826367	+	Silent	SNP	G	G	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:13826367G>T	uc010xaf.2	+	0	825	c.603G>T	c.(601-603)ctG>ctT	p.L201L		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	201					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTTCCTCCTGGTGTCTCTGT	0.587												
POTEC	388468	broad.mit.edu	37	18	14542740	14542740	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:14542740G>A	uc010dln.3	-	0	860	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	136										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCTTCTCGACGGACGTGGTAC	0.602												
ATP8B1	5205	broad.mit.edu	37	18	55328473	55328473	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:55328473C>T	uc002lgw.3	-	21	2760	c.2640G>A	c.(2638-2640)gtG>gtA	p.V880V	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	880					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGTACCTCTTCACCAGGTCCA	0.582												
TNFSF9	8744	broad.mit.edu	37	19	6535064	6535064	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:6535064C>T	uc002mfh.2	+	2	790	c.752C>T	c.(751-753)cCg>cTg	p.P251L		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	251					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTCCCTTCACCGAGGTCGGAA	0.637												
MUC16	94025	broad.mit.edu	37	19	9068085	9068085	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:9068085G>A	uc002mkp.3	-	2	19565	c.19361C>T	c.(19360-19362)gCg>gTg	p.A6454V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6456	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A6454V(3)|p.A6454E(3)|p.A2087V(1)|p.A2087E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGATGTCGCCCTATGAGG	0.498												
RFX1	5989	broad.mit.edu	37	19	14104590	14104591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:14104590_14104591insG	uc002mxv.3	-	1	337_338	c.65_66insC	c.(64-66)ccgfs	p.P22fs	RFX1_uc010dzi.2_Frame_Shift_Ins_p.P22fs	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	22					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			gggcttgtggcggggcctgtgg	0.653												
SLC25A42	284439	broad.mit.edu	37	19	19217127	19217127	+	Missense_Mutation	SNP	A	A	C	rs145774094	by1000genomes	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:19217127A>C	uc002nlf.2	+	5	586	c.430A>C	c.(430-432)Aca>Cca	p.T144P	SLC25A42_uc010xqn.1_Missense_Mutation_p.T196P	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	144					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCTGGAACGACAGCCGCTTC	0.642												
MLL2	9757	broad.mit.edu	37	19	36219962	36219962	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:36219962G>A	uc021usv.1	+	20	4764	c.4764G>A	c.(4762-4764)ggG>ggA	p.G1588G	MLL2_uc021usu.1_Silent_p.G402G	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5039					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCAAATACGGGGATGCAGACT	0.607			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
NLRP12	91662	broad.mit.edu	37	19	54314124	54314124	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:54314124G>A	uc002qcj.4	-	2	1009	c.789C>T	c.(787-789)agC>agT	p.S263S	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.S263S|NLRP12_uc002qci.4_Silent_p.S263S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.S263S	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	263	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTCTTGCATGCTGCATTCCG	0.567												
THADA	63892	broad.mit.edu	37	2	43768396	43768396	+	Missense_Mutation	SNP	T	T	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:43768396T>G	uc002rsw.4	-	20	3518	c.3166A>C	c.(3166-3168)Agt>Cgt	p.S1056R	THADA_uc010far.3_Missense_Mutation_p.S325R|THADA_uc002rsx.4_Missense_Mutation_p.S1056R|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.S765R|THADA_uc010fat.1_Missense_Mutation_p.S203R|THADA_uc002rta.2_Missense_Mutation_p.S766R	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1056							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCCTTCATACTTCTCCAACAA	0.418												
SLC9A4	389015	broad.mit.edu	37	2	103095704	103095704	+	Silent	SNP	C	C	T	rs115868705	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:103095704C>T	uc002tbz.4	+	1	1120	c.663C>T	c.(661-663)aaC>aaT	p.N221N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	221					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCGCGTGAACGAGCAGCTCT	0.612												
VIL1	7429	broad.mit.edu	37	2	219295468	219295468	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:219295468G>C	uc002vib.3	+	8	991	c.969G>C	c.(967-969)caG>caC	p.Q323H	VIL1_uc010zke.2_Missense_Mutation_p.Q12H|VIL1_uc002via.3_Missense_Mutation_p.Q323H|VIL1_uc002vic.1_Missense_Mutation_p.Q323H	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	323	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCCAAGCAGTACCCACCAA	0.557												
JPH2	57158	broad.mit.edu	37	20	42788558	42788558	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr20:42788558G>C	uc002xli.1	-	1	1742	c.869C>G	c.(868-870)aCc>aGc	p.T290S		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	290					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCATGTAGGTCTCGGTGGT	0.701												
CDH22	64405	broad.mit.edu	37	20	44828064	44828064	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr20:44828064G>A	uc002xrm.2	-	6	1820	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	CDH22_uc010ghk.1_Missense_Mutation_p.A474V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	474	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGCTCACCCGCCTCCATGGC	0.667												
USP16	10600	broad.mit.edu	37	21	30409731	30409731	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr21:30409731G>A	uc002ymy.3	+	5	785	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	USP16_uc002ymx.3_Missense_Mutation_p.V194M|USP16_uc002ymw.3_Missense_Mutation_p.V195M|USP16_uc011acm.2_Missense_Mutation_p.V180M|USP16_uc011acn.2_Intron|USP16_uc011aco.2_5'Flank	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	195					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CCAAATAACCGTGAAAGGACT	0.348												
FBLN1	2192	broad.mit.edu	37	22	45944523	45944524	+	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr22:45944523_45944524insCCAC	uc010gzz.3	+	13	1733_1734	c.1586_1587insCCAC	c.(1585-1587)ggcfs	p.G529fs	FBLN1_uc003bgg.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgh.3_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgi.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgj.1_Frame_Shift_Ins_p.G491fs	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	491	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCCACCGGGGGCCACATCTGCT	0.644												
TUBGCP6	85378	broad.mit.edu	37	22	50657589	50657589	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr22:50657589G>A	uc003bkb.1	-	19	5046	c.4534C>T	c.(4534-4536)Cac>Tac	p.H1512Y	TUBGCP6_uc003bka.1_Missense_Mutation_p.H599Y|TUBGCP6_uc010har.1_Missense_Mutation_p.H1504Y|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1512					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCTCCAGGTGCAGCTCCACG	0.642												
FGD5	152273	broad.mit.edu	37	3	14861427	14861427	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:14861427G>A	uc003bzc.3	+	0	959	c.849G>A	c.(847-849)acG>acA	p.T283T	FGD5_uc011avk.2_Silent_p.T283T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	283	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGAGGCCACGGGTGTCACAG	0.607												
TRANK1	9881	broad.mit.edu	37	3	36874402	36874402	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:36874402C>T	uc003cgj.3	-	20	6788	c.6540G>A	c.(6538-6540)tcG>tcA	p.S2180S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2180					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTCATTTTCGACTGAACTA	0.378												
ZNF167	55888	broad.mit.edu	37	3	44611913	44611913	+	Missense_Mutation	SNP	A	A	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:44611913A>C	uc003cnj.3	+	5	1727	c.1311A>C	c.(1309-1311)aaA>aaC	p.K437N	ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Missense_Mutation_p.K437N|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Missense_Mutation_p.K286N	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	437					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		CAGGGGAAAAACCCTATGAAT	0.473												
AMT	275	broad.mit.edu	37	3	49455400	49455400	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:49455400C>T	uc003cww.3	-	7	1112	c.884G>A	c.(883-885)cGc>cAc	p.R295H	AMT_uc011bcn.2_Intron|AMT_uc003cwx.3_Missense_Mutation_p.R295H|AMT_uc011bco.2_Missense_Mutation_p.R251H|AMT_uc003cwy.3_Missense_Mutation_p.R247H|AMT_uc011bcq.2_Missense_Mutation_p.R239H|AMT_uc011bcp.2_Missense_Mutation_p.R198H	NM_000481	NP_000472	P48728	GCST_HUMAN	Homo sapiens aminomethyltransferase (AMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	295					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGCTCGGCGGCGCTTCCCTGG	0.582												
CACNA1D	776	broad.mit.edu	37	3	53531323	53531323	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:53531323C>T	uc003dgv.4	+	1	375	c.212C>T	c.(211-213)aCc>aTc	p.T71I	CACNA1D_uc003dgu.4_Missense_Mutation_p.T71I|CACNA1D_uc003dgy.4_Missense_Mutation_p.T71I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	71					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACTATGAGCACCTCTGCACCC	0.542												
GCET2	257144	broad.mit.edu	37	3	111846908	111846908	+	Silent	SNP	T	T	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:111846908T>C	uc021xcl.1	-	3	290	c.105_splice	c.e3-1	p.R35_splice	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Splice_Site_p.R33_splice|GCET2_uc021xcm.1_Intron	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	33						mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						GATCCCAGCATCTAAAATACC	0.408												
SLC9C1	285335	broad.mit.edu	37	3	111898484	111898484	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:111898484G>A	uc003dyu.3	-	22	3035	c.2813C>T	c.(2812-2814)cCg>cTg	p.P938L	SLC9C1_uc011bhu.2_Missense_Mutation_p.P201L|SLC9C1_uc010hqc.3_Missense_Mutation_p.P890L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	938					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GTCAATTATCGGAAAATCTTT	0.358												
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:178916876G>A	uc003fjk.3	+	1	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(102)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:178916936G>A	uc003fjk.3	+	1	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	108	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R108H(20)|p.G106_R108del(4)|p.R108L(3)|p.G106_R108delGNR(3)|p.R108P(2)|p.R108del(2)|p.N107S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
MUC4	4585	broad.mit.edu	37	3	195484190	195484190	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:195484190G>A	uc021xjp.1	-	17	15152	c.14996C>T	c.(14995-14997)aCg>aTg	p.T4999M	MUC4_uc003fuz.3_Missense_Mutation_p.T597M|MUC4_uc003fva.3_Missense_Mutation_p.T479M|MUC4_uc003fvb.3_Missense_Mutation_p.T515M|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.T515M|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.T508M|MUC4_uc021xjn.1_Missense_Mutation_p.T688M|MUC4_uc021xjo.1_Missense_Mutation_p.T479M|MUC4_uc021xjg.1_Missense_Mutation_p.T479M|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.T563M|MUC4_uc021xjj.1_Missense_Mutation_p.T563M|MUC4_uc021xjk.1_Missense_Mutation_p.T740M|MUC4_uc021xjl.1_Missense_Mutation_p.T479M|MUC4_uc003fvo.3_Missense_Mutation_p.T763M|MUC4_uc003fvp.3_Missense_Mutation_p.T712M	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1756					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCACAGCAACGTCCCATTCTC	0.572												
MFSD7	84179	broad.mit.edu	37	4	680077	680077	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr4:680077C>T	uc003gay.3	-	2	366	c.309G>A	c.(307-309)gcG>gcA	p.A103A	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Silent_p.A103A|MFSD7_uc003gaz.3_Intron	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	103					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						AGTTCAGCCACGCACCCAGGA	0.652												
KDR	3791	broad.mit.edu	37	4	55961059	55961059	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr4:55961059G>A	uc003has.3	-	20	3183	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	KDR_uc003hat.1_Missense_Mutation_p.R961W	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	961	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R961W(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCAAGCGCCGTTTCAGATCC	0.488			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)		
FBN2	2201	broad.mit.edu	37	5	127623046	127623046	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:127623046C>T	uc003kuu.3	-	53	7273	c.6834G>A	c.(6832-6834)acG>acA	p.T2278T		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2278	EGF-like 38; calcium-binding.		T -> M (in dbSNP:rs2307109).		bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAATCGGGCACGTGCATTCAT	0.483												
WNT8A	7478	broad.mit.edu	37	5	137426568	137426568	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:137426568C>T	uc011cyk.1	+	4	1152	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	WNT8A_uc011cyj.1_Missense_Mutation_p.R306C|WNT8A_uc003lcd.1_Missense_Mutation_p.R288C			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	288					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTGGGAGCGACGTAGCTGTGG	0.542												
DND1	373863	broad.mit.edu	37	5	140052370	140052370	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:140052370G>A	uc003lgt.3	-	2	308	c.264C>T	c.(262-264)cgC>cgT	p.R88R		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	Homo sapiens dead end homolog 1 (zebrafish) (DND1), mRNA.	88	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCATCAGGCGGAACTCGT	0.667												
GABRB2	2561	broad.mit.edu	37	5	160721276	160721276	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:160721276A>G	uc003lys.1	-	10	1569	c.1351T>C	c.(1351-1353)Ttt>Ctt	p.F451L	GABRB2_uc011deh.1_Missense_Mutation_p.F252L|GABRB2_uc003lyr.1_Missense_Mutation_p.F413L|GABRB2_uc003lyt.1_Missense_Mutation_p.F413L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	451					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTCGGCCAAAACTATGCCTG	0.527												
NOP16	51491	broad.mit.edu	37	5	175811029	175811030	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:175811029_175811030insC	uc003mee.3	-	4	651_652	c.651_652insG	c.(649-654)gggttcfs	p.G217fs	NOP16_uc003med.3_Frame_Shift_Ins_p.G216fs			Q9Y3C1	NOP16_HUMAN	Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.	0						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TTTTCCGTGAACCCCCAGATGA	0.436												
ZNF451	26036	broad.mit.edu	37	6	57013164	57013164	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:57013164A>G	uc003pdm.1	+	9	2505	c.2281A>G	c.(2281-2283)Aca>Gca	p.T761A	ZNF451_uc003pdl.3_Missense_Mutation_p.T761A|ZNF451_uc003pdn.1_Missense_Mutation_p.T761A|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.T761A	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGTTCGGCAACAGCACAGAA	0.408												
C6orf221	154288	broad.mit.edu	37	6	74073368	74073368	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:74073368C>T	uc003pgt.4	+	2	492	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	147										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CGGGACGCAGCGTTCGGTGGA	0.667												
HEY2	23493	broad.mit.edu	37	6	126080280	126080280	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:126080280G>A	uc003qad.3	+	4	537	c.346G>A	c.(346-348)Gct>Act	p.A116T	HEY2_uc011ebr.2_Missense_Mutation_p.A70T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	116	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TGACGCACACGCTCTTGCCAT	0.522												
CALCR	799	broad.mit.edu	37	7	93072970	93072970	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:93072970C>T	uc003umv.2	-	10	1150	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.V250M|CALCR_uc003umw.2_Missense_Mutation_p.V250M	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	266					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AACACAGCCACGACAATGAGT	0.448												
JHDM1D	80853	broad.mit.edu	37	7	139833358	139833358	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:139833358G>A	uc003vvm.3	-	2	383	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	127					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTCGAGAGCGTAATTCCTTA	0.378												
EPHB6	2051	broad.mit.edu	37	7	142568575	142568575	+	Missense_Mutation	SNP	T	T	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:142568575T>A	uc011kst.2	+	19	3771	c.2984T>A	c.(2983-2985)cTg>cAg	p.L995Q	EPHB6_uc011ksu.2_Missense_Mutation_p.L995Q|EPHB6_uc003wbs.3_Missense_Mutation_p.L703Q|EPHB6_uc003wbt.3_Missense_Mutation_p.L469Q|EPHB6_uc003wbu.3_Missense_Mutation_p.L703Q|EPHB6_uc003wbv.3_Missense_Mutation_p.L379Q	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	995	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCATCACCCTGGCTGGCCAC	0.617												
KEL	3792	broad.mit.edu	37	7	142638355	142638355	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:142638355C>T	uc003wcb.3	-	18	2393	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	728					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCTGGCAGCGGCTGGAGGG	0.567												
XKR6	286046	broad.mit.edu	37	8	11058779	11058779	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr8:11058779C>T	uc003wtk.1	-	0	97	c.70G>A	c.(70-72)Gtg>Atg	p.V24M		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	24	Gly-rich.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCGCTGCCCACCGCCTCGTCC	0.726												
TMEM215	401498	broad.mit.edu	37	9	32784817	32784817	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:32784817C>T	uc022bfh.1	+	0	636	c.636C>T	c.(634-636)aaC>aaT	p.N212N	TMEM215_uc003zri.4_Silent_p.N212N	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	212						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACAAGCAGAACAGCCCGTATG	0.493												
CCIN	881	broad.mit.edu	37	9	36170861	36170861	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:36170861C>T	uc003zzb.4	+	0	1473	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	454					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCACTGGGGACGTGGTCCAGT	0.557												
FOXB2	442425	broad.mit.edu	37	9	79634932	79634932	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:79634932C>T	uc004ako.1	+	0	362	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	121					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CACTTGCACGCGGGAAGCACC	0.687												
ZNF618	114991	broad.mit.edu	37	9	116731434	116731434	+	Missense_Mutation	SNP	C	C	T	rs143368881	by1000genomes	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:116731434C>T	uc004bid.3	+	1	170	c.71C>T	c.(70-72)gCg>gTg	p.A24V	ZNF618_uc004bib.1_Missense_Mutation_p.A24V|ZNF618_uc004bic.3_Missense_Mutation_p.A24V|ZNF618_uc011lxi.2_Missense_Mutation_p.A24V|ZNF618_uc011lxj.2_Missense_Mutation_p.A24V	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AAAAGCACTGCGAGCAGGTAC	0.557												
DBH	1621	broad.mit.edu	37	9	136517375	136517375	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:136517375G>A	uc004cel.3	+	7	1352	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	448					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CAGGAGATCCGCATGTTGAAG	0.672												
SLC34A3	142680	broad.mit.edu	37	9	140127306	140127306	+	Silent	SNP	C	C	T	rs142873841	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:140127306C>T	uc022bqf.1	+	4	596	c.375C>T	c.(373-375)ggC>ggT	p.G125G	SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc011met.2_Silent_p.G125G|SLC34A3_uc004cmf.1_Silent_p.G125G	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	125					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGTCATTGGCGTGCTGGTCA	0.617												
F9	2158	broad.mit.edu	37	X	138643736	138643736	+	Nonsense_Mutation	SNP	C	C	T	rs137852250		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chrX:138643736C>T	uc004fas.1	+	7	921	c.892C>T	c.(892-894)Cga>Tga	p.R298*	F9_uc004fat.1_Nonsense_Mutation_p.R260*	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	298	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AAATGTGATTCGAATTATTCC	0.353