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
VPS13D	55187	broad.mit.edu	37	1	12371650	12371650	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:12371650C>T	uc001atv.3	+	27	6931	c.6790C>T	c.(6790-6792)Cgg>Tgg	p.R2264W	VPS13D_uc001atw.3_Missense_Mutation_p.R2264W|VPS13D_uc001atx.3_Missense_Mutation_p.R1452W|VPS13D_uc001aty.1_Missense_Mutation_p.R2W	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2264					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATTTATGCGGCCTTATGA	0.438												
SLC2A1	6513	broad.mit.edu	37	1	43396818	43396818	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:43396818G>A	uc001cik.2	-	2	699	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	58					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGAGCGTGGTGGGCAGGATGC	0.602											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TGFBR3	7049	broad.mit.edu	37	1	92178062	92178062	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:92178062G>A	uc001doh.3	-	12	2419	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	TGFBR3_uc009wde.3_Intron|TGFBR3_uc010osy.2_Missense_Mutation_p.A593V|TGFBR3_uc001doi.3_Missense_Mutation_p.A634V|TGFBR3_uc001doj.3_Missense_Mutation_p.A634V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	635	ZP.		A -> T.		BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGTTTGGATGGCAAATCCCAG	0.368												
PTCHD3	374308	broad.mit.edu	37	10	27702773	27702773	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr10:27702773G>A	uc001itu.2	-	0	525	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	136					spermatid development	integral to membrane	hedgehog receptor activity	p.G135G(1)|p.A136A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCAGGGGTGCGCGCCCACCTG	0.667												
OR51M1	390059	broad.mit.edu	37	11	5410816	5410816	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:5410816C>A	uc010qzc.2	+	0	210	c.188C>A	c.(187-189)aCc>aAc	p.T63N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	63						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTATTAAGACCAACCCTCGT	0.478												
CTNND1	1500	broad.mit.edu	37	11	57559037	57559037	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:57559037G>A	uc001nmc.4	+	2	658	c.87G>A	c.(85-87)gcG>gcA	p.A29A	CTNND1_uc001nlf.2_Silent_p.A29A|CTNND1_uc021qjk.1_Silent_p.A29A|CTNND1_uc001nlh.1_Silent_p.A29A|CTNND1_uc001nlj.4_5'UTR|CTNND1_uc001nlq.4_Intron|CTNND1_uc001nlr.4_5'UTR|CTNND1_uc001nln.4_Silent_p.A29A|CTNND1_uc001nli.4_Silent_p.A29A|CTNND1_uc001nlo.4_Intron|CTNND1_uc001nlp.4_5'UTR|CTNND1_uc001nlu.4_Intron|CTNND1_uc001nlt.4_Intron|CTNND1_uc001nlv.4_Intron|CTNND1_uc001nls.4_Intron|CTNND1_uc001nlw.4_Intron|CTNND1_uc001nmf.4_Silent_p.A29A|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_5'UTR|CTNND1_uc001nlk.4_5'UTR|CTNND1_uc001nme.4_Silent_p.A29A|CTNND1_uc001nll.4_5'UTR|CTNND1_uc001nlm.4_Silent_p.A29A|CTNND1_uc001nmi.4_Intron|CTNND1_uc001nmg.4_5'UTR|CTNND1_uc001nmh.4_Silent_p.A29A	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	29					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGACCCGGGCGCTGGAGGAGG	0.637												
ACER3	55331	broad.mit.edu	37	11	76701596	76701596	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:76701596T>C	uc009yum.1	+	5	520	c.416T>C	c.(415-417)gTa>gCa	p.V139A	ACER3_uc010rsg.1_Missense_Mutation_p.V97A|ACER3_uc009yul.1_Non-coding_Transcript|ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yun.1_Missense_Mutation_p.V97A|ACER3_uc009yuo.1_Missense_Mutation_p.V44A|ACER3_uc010rsh.1_Missense_Mutation_p.V102A|ACER3_uc010rsi.1_Missense_Mutation_p.V44A|ACER3_uc010rsj.1_Missense_Mutation_p.V44A	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	Homo sapiens alkaline ceramidase 3 (ACER3), mRNA.	139					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TACCTTAAGGTAAAAGAGCCG	0.338												
NNMT	4837	broad.mit.edu	37	11	114182998	114182998	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:114182998G>A	uc001por.1	+	4	858	c.594G>A	c.(592-594)gcG>gcA	p.A198A	NNMT_uc001pos.1_Silent_p.A198A	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	198					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCATGGATGCGCTCAAGAGCA	0.612												
OR6X1	390260	broad.mit.edu	37	11	123624636	123624636	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:123624636G>A	uc010rzy.2	-	0	591	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGCTATGACGCCCAGGAGTT	0.448												
NDUFA12	55967	broad.mit.edu	37	12	95365322	95365322	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr12:95365322G>A	uc001tdl.3	-	3	387	c.332C>T	c.(331-333)aCg>aTg	p.T111M		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), nuclear gene encoding mitochondrial protein, mRNA.	111					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	TTTATGGTTCGTCCAAATGAA	0.423												
RBM19	9904	broad.mit.edu	37	12	114282577	114282577	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr12:114282577A>G	uc009zwi.2	-	22	2825	c.2681T>C	c.(2680-2682)cTg>cCg	p.L894P	RBM19_uc001tvn.4_Missense_Mutation_p.L894P|RBM19_uc001tvm.3_Missense_Mutation_p.L894P	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	894	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTGTGACACAGGGCGTTGAA	0.637												
RABGGTA	5875	broad.mit.edu	37	14	24739285	24739285	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr14:24739285G>A	uc001wof.3	-	3	723	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	RABGGTA_uc001wog.3_Missense_Mutation_p.R101W|HP08474_uc021rro.1_5'Flank	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	101					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGGTTCACCCGCAGGCAGCTC	0.632												
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652												
CORO7-PAM16	79585	broad.mit.edu	37	16	4414382	4414382	+	Silent	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr16:4414382C>T	uc002cwf.3	-	13	1613	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.R170R|CORO7-PAM16_uc002cwh.4_Silent_p.R390R|CORO7-PAM16_uc010uxh.2_Silent_p.R372R|CORO7-PAM16_uc010uxi.2_Silent_p.R305R|CORO7-PAM16_uc002cwi.1_Silent_p.R170R|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Silent_p.R170R	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		TCGGGTGGGGCCGGCAGGCGG	0.701												
UBC	7316	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:21731144T>G	uc002gyy.3	+	1	571	c.446T>G	c.(445-447)cTg>cGg	p.L149R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	301	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L149R(18)|p.R148S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCTGAGAGGTGGT	0.542												
SLC35G3	146861	broad.mit.edu	37	17	33520922	33520922	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:33520922T>A	uc002hjd.2	-	0	491	c.405A>T	c.(403-405)aaA>aaT	p.K135N		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	135	DUF6 1.					integral to membrane											TGGAAGAACCTTTGCGAACAG	0.607												
KRT20	54474	broad.mit.edu	37	17	39041346	39041346	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:39041346G>A	uc002hvl.3	-	0	150	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	31	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCTGGGTGTCGTCCCGAGGCG	0.607												
TBKBP1	9755	broad.mit.edu	37	17	45776024	45776024	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:45776024C>G	uc002ilu.3	+	3	1366	c.517C>G	c.(517-519)Caa>Gaa	p.Q173E		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	Homo sapiens TBK1 binding protein 1 (TBKBP1), mRNA.	173					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCGGCAACAGCAAGGCCTCCA	0.647											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EXOC7	23265	broad.mit.edu	37	17	74084564	74084564	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:74084564T>G	uc002jqs.3	-	10	1528	c.1433A>C	c.(1432-1434)gAc>gCc	p.D478A	EXOC7_uc010dgv.2_Missense_Mutation_p.D374A|EXOC7_uc010wsv.2_Missense_Mutation_p.D386A|EXOC7_uc010wsw.2_Missense_Mutation_p.D450A|EXOC7_uc002jqq.3_Missense_Mutation_p.D427A|EXOC7_uc010wsx.2_Missense_Mutation_p.D419A|EXOC7_uc002jqr.3_Missense_Mutation_p.D396A	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	478					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTCTGCGAAGTCCTCCAGCGC	0.632												
ZNF407	55628	broad.mit.edu	37	18	72775660	72775660	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr18:72775660G>A	uc002llw.2	+	7	6036	c.5983G>A	c.(5983-5985)Gcg>Acg	p.A1995T		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATTGCTCTGTGCGGTCACTGA	0.627												
FBN3	84467	broad.mit.edu	37	19	8176555	8176555	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:8176555G>A	uc002mjf.3	-	30	4078	c.4061C>T	c.(4060-4062)gCc>gTc	p.A1354V		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1354	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCATCCCCGGCAAAGCCCTG	0.637												
ZNF101	94039	broad.mit.edu	37	19	19790246	19790247	+	Frame_Shift_Ins	INS	-	-	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:19790246_19790247insC	uc002nni.2	+	3	558_559	c.448_449insC	c.(448-450)tccfs	p.S150fs	ZNF101_uc010ecg.2_Frame_Shift_Ins_p.S30fs|ZNF101_uc002nnj.2_Frame_Shift_Ins_p.S30fs	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TGGGAAAGCCTCCATTTCCCCC	0.510												
CCDC155	147872	broad.mit.edu	37	19	49910497	49910497	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:49910497C>T	uc002pnm.2	+	11	1082	c.877_splice	c.e11-1	p.R293_splice	CCDC155_uc010emx.2_Splice_Site_p.R266_splice	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	293						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TTCTTGGCAGCGGCAGCTCTT	0.592												
TBC1D17	79735	broad.mit.edu	37	19	50387771	50387771	+	Silent	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:50387771C>T	uc002pqo.3	+	11	1598	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	TBC1D17_uc010ybg.2_Silent_p.N400N|TBC1D17_uc002pqp.3_Silent_p.N84N|TBC1D17_uc002pqr.3_Silent_p.N84N	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	433	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATTCAGAACGAGGTGGATG	0.607												
NT5C1B-RDH14	93034	broad.mit.edu	37	2	18764143	18764143	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:18764143T>C	uc010exr.3	-	5	1130	c.1018A>G	c.(1018-1020)Aat>Gat	p.N340D	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.N398D|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.N338D|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.N398D|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.N381D|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.N415D|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.N400D|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.N338D	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	398					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CCGTAGTGATTGACGCTGTTT	0.413												
TGFBRAP1	9392	broad.mit.edu	37	2	105897164	105897164	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:105897164C>T	uc002tcq.3	-	5	1222	c.1138G>A	c.(1138-1140)Gtc>Atc	p.V380I	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.V150I|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.V380I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGCTCCCGGACATCAAGCTGG	0.532												
CNTNAP5	129684	broad.mit.edu	37	2	125367398	125367398	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:125367398G>A	uc010flu.3	+	11	2141	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E592K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	592	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAATCCTGCGAGGTGTACAG	0.517												
GALNT5	11227	broad.mit.edu	37	2	158114680	158114681	+	Frame_Shift_Ins	INS	-	-	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:158114680_158114681insC	uc002tzg.3	+	0	341_342	c.86_87insC	c.(85-87)gacfs	p.D29fs	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	29					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCCTCTTTGACATGGCAGCTC	0.495												
PDE11A	50940	broad.mit.edu	37	2	178936459	178936459	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:178936459C>G	uc002ulq.3	-	0	1024	c.706G>C	c.(706-708)Gac>Cac	p.D236H	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	236	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GAGCAGCGGTCAGCATCCACC	0.493									Primary Pigmented Nodular Adrenocortical Disease, Familial			
SPHKAP	80309	broad.mit.edu	37	2	228882884	228882884	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:228882884C>T	uc002vpq.2	-	6	2733	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E896K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E896K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	896						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTTGAACTTCGTTGATGCGA	0.502												
TGM2	7052	broad.mit.edu	37	20	36789862	36789862	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr20:36789862G>A	uc002xhr.3	-	1	250	c.150C>T	c.(148-150)taC>taT	p.Y50Y	TGM2_uc010zvx.2_Silent_p.Y50Y|TGM2_uc010zvy.2_Intron|TGM2_uc002xhs.1_Silent_p.Y50Y|TGM2_uc002xht.3_Silent_p.Y50Y|TGM2_uc002xhu.3_Silent_p.Y50Y	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	50					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGGCCTCGTAGTTGCGGC	0.642												
PFDN4	5203	broad.mit.edu	37	20	52830966	52830966	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr20:52830966C>T	uc002xwx.3	+	1	239	c.101C>T	c.(100-102)aCa>aTa	p.T34I		NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	Homo sapiens prefoldin subunit 4 (PFDN4), mRNA.	34					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			AGTAGAATCACAGAGCTGAAG	0.284												
TRPM2	7226	broad.mit.edu	37	21	45786659	45786659	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr21:45786659C>G	uc010gpt.1	+	3	546	c.446C>G	c.(445-447)aCg>aGg	p.T149R	TRPM2_uc002zet.1_Missense_Mutation_p.T149R|TRPM2_uc002zeu.1_Missense_Mutation_p.T149R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.T149R|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	149						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCCAGGACACGCCCTCCAGC	0.617												
PICK1	9463	broad.mit.edu	37	22	38471061	38471061	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr22:38471061G>A	uc003auq.3	+	12	1560	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	PICK1_uc003aur.3_Silent_p.T390T|PICK1_uc003aus.3_Silent_p.T390T|PICK1_uc003aut.3_Silent_p.T390T	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					aggaagaCACGGCAGCTGGGG	0.642												
RIBC2	26150	broad.mit.edu	37	22	45813805	45813805	+	Missense_Mutation	SNP	C	C	T	rs137932273		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr22:45813805C>T	uc011aqs.2	+	3	726	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	106										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAAGAACGCCCGTGCTGAACA	0.418												
CADPS	8618	broad.mit.edu	37	3	62636671	62636671	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr3:62636671C>T	uc003dll.2	-	4	1414	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	CADPS_uc003dlm.2_Missense_Mutation_p.A352T|CADPS_uc003dln.2_Missense_Mutation_p.A352T|CADPS_uc021wzv.1_Missense_Mutation_p.A352T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	352					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCCAAGTTGGCCATGAGCAGG	0.478												
HEATR7B2	133558	broad.mit.edu	37	5	41070948	41070948	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:41070948G>T	uc003jmj.4	-	0	497	c.7C>A	c.(7-9)Ctt>Att	p.L3I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.L3I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	3							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCTGTACTAAGTGTCATGTCT	0.398												
ENC1	8507	broad.mit.edu	37	5	73931652	73931652	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:73931652T>C	uc003kdc.4	-	1	1790	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	ENC1_uc011css.2_Missense_Mutation_p.Y147C|ENC1_uc021yao.1_Missense_Mutation_p.Y220C	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	220					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTTCAGGTCATAGCTGATCCA	0.512												
PDGFRB	5159	broad.mit.edu	37	5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:149503887G>A	uc003lro.3	-	13	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	650	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""							
SDK1	221935	broad.mit.edu	37	7	4011129	4011129	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:4011129C>A	uc003smx.3	+	11	1885	c.1746C>A	c.(1744-1746)gaC>gaA	p.D582E		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	582	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCCTGAGGACCACGTGGTGA	0.542												
FAM188B	358	broad.mit.edu	37	7	30961834	30961834	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:30961834C>T	uc003tbv.2	+	1	648	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	FAM188B_uc011kac.1_Missense_Mutation_p.H240Y|FAM188B_uc010kwf.1_Missense_Mutation_p.H97Y|FAM188B_uc010kwh.1_Missense_Mutation_p.H129Y|FAM188B_uc022abh.1_Missense_Mutation_p.H65Y	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCCTTGGACACCTCCTGGC	0.692												
PKD1L1	168507	broad.mit.edu	37	7	47840381	47840381	+	Missense_Mutation	SNP	G	G	A	rs141837186		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:47840381G>A	uc003tny.2	-	53	8093	c.8059C>T	c.(8059-8061)Ccc>Tcc	p.P2687S	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2687					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCAGCCCGGGGAAGGCGTCT	0.577												
AKAP9	10142	broad.mit.edu	37	7	91624020	91624020	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:91624020A>G	uc003ulg.3	+	5	887	c.662A>G	c.(661-663)aAg>aGg	p.K221R	AKAP9_uc003uld.4_Missense_Mutation_p.K221R|AKAP9_uc003ule.2_Missense_Mutation_p.K233R|AKAP9_uc003ulf.3_Missense_Mutation_p.K221R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	233	Gln-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGAGAAAAGGATGAGACA	0.318			T	BRAF	papillary thyroid							
RELN	5649	broad.mit.edu	37	7	103191670	103191670	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:103191670G>A	uc022ajr.1	-	40	6306	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	RELN_uc022ajq.1_Missense_Mutation_p.A2049V|RELN_uc010liz.3_Missense_Mutation_p.A2049V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2049					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.A2049V(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGCCAGGTCGCCCCGAAGTC	0.547												
RNF32	140545	broad.mit.edu	37	7	156451221	156451221	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:156451221C>G	uc003wmo.3	+	6	871	c.641C>G	c.(640-642)cCt>cGt	p.P214R	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.P214R|RNF32_uc003wmq.3_Missense_Mutation_p.P214R|RNF32_uc003wmr.3_Missense_Mutation_p.P214R|RNF32_uc003wms.3_Missense_Mutation_p.P214R|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.P214R	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	214	IQ.					aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAAACAGTACCTCCCACAGAT	0.383												
LYN	4067	broad.mit.edu	37	8	56863056	56863056	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:56863056A>G	uc003xsk.4	+	4	605	c.323A>G	c.(322-324)aAa>aGa	p.K108R	LYN_uc003xsl.4_Missense_Mutation_p.K87R	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	108	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CTTTTAACAAAAAAAGAAGGC	0.388												
TRAM1	23471	broad.mit.edu	37	8	71510232	71510256	+	Splice_Site	DEL	TCGCCTGTTAATTTTCTAAAAATAA	TCGCCTGTTAATTTTCTAAAAATAA	-			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA	uc003xyo.2	-	4	570	c.310_splice	c.e4-1	p.K104_splice	TRAM1_uc011lfc.2_Splice_Site_p.K73_splice	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	104					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.R108*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AGAAGTGCATTCGCCTGTTAATTTTCTAAAAATAAAAACAGCCAT	0.307												
COL14A1	7373	broad.mit.edu	37	8	121219270	121219270	+	Silent	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:121219270C>T	uc003yox.3	+	9	1393	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	COL14A1_uc003yoy.3_Silent_p.A54A|COL14A1_uc010mde.1_Silent_p.A54A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	376	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGACTCATGCCCCAGGAAATG	0.428												
FOXB2	442425	broad.mit.edu	37	9	79635212	79635212	+	Silent	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr9:79635212C>T	uc004ako.1	+	0	642	c.642C>T	c.(640-642)ccC>ccT	p.P214P		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	214					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						CGTCTCACCCCGGCAAGATGC	0.751												
OR13C4	138804	broad.mit.edu	37	9	107289309	107289309	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr9:107289309A>G	uc011lvn.2	-	0	182	c.182T>C	c.(181-183)tTc>tCc	p.F61S		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCCCAGGAAGAAGTACATGGG	0.418												
SMC1A	8243	broad.mit.edu	37	X	53432322	53432322	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chrX:53432322G>T	uc004dsg.3	-	12	1981	c.1912_splice	c.e12-1	p.T638_splice	SMC1A_uc011moe.2_Splice_Site_p.T616_splice|SMC1A_uc011mof.2_Splice_Site_p.T404_splice	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	638	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGTGCCACTGTCTACACACA	0.562												
SATL1	340562	broad.mit.edu	37	X	84347411	84347411	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chrX:84347411C>G	uc004een.3	-	4					APOOL_uc004eem.3_3'UTR|APOOL_uc010nmp.3_Non-coding_Transcript	NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.								N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TCTTCCCATGCCATGTCCAGG	0.458												
