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
ACAP3	116983	broad.mit.edu	37	1	1229200	1229201	+	Splice_Site	DEL	CA	CA	-			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:1229200_1229201delCA	uc001aeb.2	-	23	2434	c.2360_splice	c.e23+1	p.L787_splice	ACAP3_uc001ady.2_Splice_Site_p.L517_splice|ACAP3_uc001aea.2_Splice_Site_p.L712_splice	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	787					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGGCCGCGCTCACAGTGTCACG	0.752												
TMCO4	255104	broad.mit.edu	37	1	20027271	20027271	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:20027271C>T	uc001bcn.3	-	13	1614	c.1372G>A	c.(1372-1374)Ggc>Agc	p.G458S	TMCO4_uc001bco.1_Missense_Mutation_p.G458S|TMCO4_uc001bcp.1_Missense_Mutation_p.G418S	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	458						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGCAGTAGCCGTTGATGATC	0.567												
HOOK1	51361	broad.mit.edu	37	1	60299185	60299185	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:60299185G>A	uc009wad.3	+	5	484	c.382G>A	c.(382-384)Gcg>Acg	p.A128T	HOOK1_uc001czo.3_Missense_Mutation_p.A128T|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.A86T	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	128	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTTAGGTTGTGCGATCAACTG	0.373												
RBMXL1	494115	broad.mit.edu	37	1	89448530	89448530	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:89448530T>A	uc021opo.1	-	0	980	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.Y327F|RBMXL1_uc001dms.3_Missense_Mutation_p.Y327F	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	327	Ser-rich.						nucleotide binding|RNA binding										GCTGCTTGAGTAACTGTCTCG	0.517												
SPTA1	6708	broad.mit.edu	37	1	158622276	158622276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:158622276delT	uc001fst.1	-	22	3555	c.3356delA	c.(3355-3357)aagfs	p.K1119fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1119					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATCAAACTTTTTCTGCAG	0.398												
DDR2	4921	broad.mit.edu	37	1	162749912	162749912	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:162749912C>T	uc001gcf.3	+	18	2909	c.2444C>T	c.(2443-2445)cCt>cTt	p.P815L	DDR2_uc001gcg.3_Missense_Mutation_p.P815L|AF268386_uc001gch.1_5'Flank	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	815	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P815L(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACTTACCTCCCTCAACCAGCC	0.438												
SMG7	9887	broad.mit.edu	37	1	183511445	183511445	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:183511445C>T	uc001gqg.3	+	13	1900	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	SMG7_uc010pob.2_Silent_p.N579N|SMG7_uc021pga.1_Silent_p.N508N|SMG7_uc001gqf.3_Silent_p.N550N|SMG7_uc001gqh.3_Silent_p.N550N|SMG7_uc010poc.2_Silent_p.N508N	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	550					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCAAAGAAAACATTAAGACAC	0.428												
HMCN1	83872	broad.mit.edu	37	1	185972975	185972975	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:185972975A>T	uc001grq.1	+	29	4704	c.4475_splice	c.e29+1	p.K1492_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1492	Ig-like C2-type 12.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAAGATGGCAAGTGAGTATC	0.388												
USH2A	7399	broad.mit.edu	37	1	216373084	216373084	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:216373084C>T	uc001hku.1	-	16	4083	c.3696G>A	c.(3694-3696)ttG>ttA	p.L1232L	USH2A_uc001hkv.3_Silent_p.L1232L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1232	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTAATGGGCAAGCTGTGTA	0.483										HNSCC(13;0.011)		
ZP4	57829	broad.mit.edu	37	1	238053434	238053434	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:238053434C>G	uc001hym.3	-	1	505	c.218G>C	c.(217-219)tGt>tCt	p.C73S	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	73					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCAGGTGCCACAGTCGGAGTC	0.562												
OR2W5	441932	broad.mit.edu	37	1	247654759	247654759	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:247654759C>T	uc001icz.2	+	0	390	c.330C>T	c.(328-330)acC>acT	p.T110T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T110T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGGCTCCACCGAGTGCGTCC	0.607												
MUC5B	727897	broad.mit.edu	37	11	1267649	1267649	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:1267649C>T	uc001lta.3	+	30	9598	c.9539C>T	c.(9538-9540)aCg>aTg	p.T3180M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3180	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCGGATCCACGGCCACCGCC	0.687												
LRRC55	219527	broad.mit.edu	37	11	56949722	56949722	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:56949722C>T	uc001njl.2	+	0	502	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	89						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCCCACAACCGCATCACAGC	0.597												
AHNAK	79026	broad.mit.edu	37	11	62301253	62301253	+	Silent	SNP	C	C	T	rs141489091	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:62301253C>T	uc001ntl.3	-	4	936	c.636G>A	c.(634-636)tcG>tcA	p.S212S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	212					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGCTGCCCCCGAGCCCGAGG	0.562												
SNX15	29907	broad.mit.edu	37	11	64800008	64800008	+	Missense_Mutation	SNP	C	C	T	rs142024969	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:64800008C>T	uc001oci.4	+	5	895	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	SNX15_uc001ock.3_Missense_Mutation_p.R81W	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	81	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCTTTCCCCCGGGCCCAGGT	0.627												
HSPB2	3316	broad.mit.edu	37	11	111784541	111784541	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:111784541C>T	uc001pmg.2	+	1	565	c.471C>T	c.(469-471)gtC>gtT	p.V157V	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_Non-coding_Transcript|C11orf52_uc001pmh.3_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	Homo sapiens heat shock 27kDa protein 2 (HSPB2), mRNA.	157					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		ACACAGAGGTCAATGAGGTCT	0.592												
PDZD3	79849	broad.mit.edu	37	11	119059718	119059718	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:119059718C>T	uc001pwb.3	+	7	2014	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I	PDZD3_uc001pvz.3_Missense_Mutation_p.T431I|PDZD3_uc010rzd.2_Missense_Mutation_p.T418I|PDZD3_uc001pvy.3_Missense_Mutation_p.T417I|PDZD3_uc001pwa.3_Missense_Mutation_p.T127I			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	497	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CACCAGGTGACTCCAGGAGGC	0.602												
VSIG2	23584	broad.mit.edu	37	11	124620786	124620786	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:124620786G>A	uc001qas.3	-	2	327	c.251C>T	c.(250-252)cCa>cTa	p.P84L	VSIG2_uc001qat.3_Missense_Mutation_p.P84L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	84	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGAACCAGTTGGATACAGATG	0.537												
SLC6A13	6540	broad.mit.edu	37	12	333649	333649	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:333649C>T	uc001qic.2	-	9	1181	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SLC6A13_uc009zdj.2_Missense_Mutation_p.R354Q|SLC6A13_uc010sdl.2_Missense_Mutation_p.R272Q	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	364					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCACAGCCCGCGGGTAAGC	0.617												
TMTC1	83857	broad.mit.edu	37	12	29786150	29786150	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:29786150C>T	uc021qwi.1	-	5	1117	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	TMTC1_uc001riz.3_Missense_Mutation_p.R2Q|TMTC1_uc001rja.3_Missense_Mutation_p.R89Q|TMTC1_uc001rjb.3_Missense_Mutation_p.R245Q|TMTC1_uc001rjc.1_Missense_Mutation_p.R307Q	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	353						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGCTAAGTTCCGCATGTCCCA	0.498												
ARHGAP9	64333	broad.mit.edu	37	12	57872982	57872982	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:57872982G>A	uc001sod.3	-	4	614	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.P70S|ARHGAP9_uc001soc.3_Missense_Mutation_p.P70S|ARHGAP9_uc001soe.1_Missense_Mutation_p.P149S|ARHGAP9_uc010sro.1_Missense_Mutation_p.P70S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	70					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GAGGTGGAGGGAGCTTCTAGG	0.567												
NTN4	59277	broad.mit.edu	37	12	96180812	96180812	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:96180812A>G	uc001tei.3	-	1	939	c.490T>C	c.(490-492)Tgc>Cgc	p.C164R	NTN4_uc009ztf.3_Missense_Mutation_p.C164R|NTN4_uc009ztg.3_Missense_Mutation_p.C127R	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	164	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTAGCGGAGCAGTTAGTCGCA	0.493												
UNC119B	84747	broad.mit.edu	37	12	121154526	121154526	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:121154526C>T	uc001tyz.3	+	2	901	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	152										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTCCGCCTCCGGACAGTCGG	0.532												
KBTBD6	89890	broad.mit.edu	37	13	41705381	41705381	+	Silent	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr13:41705381G>A	uc001uxu.1	-	0	1556	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	423							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCACGACACAGCAAGCGATCT	0.493												
CXADRP2	646243	broad.mit.edu	37	15	22016356	22016356	+	Missense_Mutation	SNP	C	C	T	rs146181214	by1000genomes	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:22016356C>T	uc010tzk.1	-	0	523	c.361G>A	c.(361-363)Gtt>Att	p.V121I						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		GATCCATCAACGTAACATCTT	0.388												
C15orf52	388115	broad.mit.edu	37	15	40630791	40630791	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:40630791C>T	uc001zlh.4	-	4	606	c.590G>A	c.(589-591)cGt>cAt	p.R197H	C15orf52_uc001zli.1_Missense_Mutation_p.R129H|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	197										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCGGGTCACACGCCCTCCAGG	0.577											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TP53BP1	7158	broad.mit.edu	37	15	43773221	43773221	+	Splice_Site	SNP	C	C	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:43773221C>G	uc001zrs.3	-	5	505	c.357_splice	c.e5-1	p.S119_splice	TP53BP1_uc010udp.2_Splice_Site_p.S119_splice|TP53BP1_uc001zrq.4_Splice_Site_p.S124_splice|TP53BP1_uc001zrr.4_Splice_Site_p.S124_splice|TP53BP1_uc010udq.1_Splice_Site_p.S124_splice	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	119					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCCAGAACACTACACAGCAG	0.458								Other conserved DNA damage response genes				
GCOM1	145781	broad.mit.edu	37	15	58006757	58006757	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:58006757G>A	uc002aeo.3	+	12	1459	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	GCOM1_uc002aem.3_Silent_p.A511A|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aes.3_Silent_p.A98A|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Silent_p.A329A|GCOM1_uc002aeu.4_Silent_p.A172A	NM_001018091	NP_001018101	P0CAP1	GCOM1_HUMAN	Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 2, mRNA.	51					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		p.A329A(1)|p.A511A(1)		endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGCTCGCAGCGCAAAAATTAG	0.398												
ZSCAN10	84891	broad.mit.edu	37	16	3140535	3140535	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:3140535C>T	uc002ctv.1	-	4	823	c.735G>A	c.(733-735)ccG>ccA	p.P245P	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.P163P|ZSCAN10_uc002ctx.1_Silent_p.P173P	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	245					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602												
MYH11	4629	broad.mit.edu	37	16	15818586	15818586	+	Missense_Mutation	SNP	C	C	T	rs150883363		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:15818586C>T	uc002ddx.3	-	30	4162	c.4055G>A	c.(4054-4056)cGg>cAg	p.R1352Q	MYH11_uc002ddv.3_Missense_Mutation_p.R1352Q|MYH11_uc002ddw.3_Missense_Mutation_p.R1345Q|MYH11_uc002ddy.3_Missense_Mutation_p.R1345Q|MYH11_uc010bvg.3_Missense_Mutation_p.R1177Q|NDE1_uc010uzy.2_3'UTR|NDE1_uc002dds.3_3'UTR|MYH11_uc010bvh.3_Missense_Mutation_p.R51Q|NDE1_uc002ddz.1_Non-coding_Transcript	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1345					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGGCTGTTCCGCTCCTCCTC	0.597			T	CBFB	AML							
PRKCB	5579	broad.mit.edu	37	16	24231309	24231309	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:24231309G>A	uc002dmd.3	+	16	2088	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	PRKCB_uc002dme.3_3'UTR	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	631	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTCCAACTTCGACAAAGAGTT	0.433												
CHD9	80205	broad.mit.edu	37	16	53337775	53337775	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:53337775C>T	uc002ehb.3	+	29	6021	c.5857C>T	c.(5857-5859)Cca>Tca	p.P1953S	CHD9_uc002egy.3_Missense_Mutation_p.P1953S|CHD9_uc002ehc.3_Missense_Mutation_p.P1953S|CHD9_uc002ehf.3_Missense_Mutation_p.P1067S|CHD9_uc002ehg.2_Missense_Mutation_p.P1067S|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1953					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCTTTGCCATCCAAATCCAGA	0.478												
ASGR2	433	broad.mit.edu	37	17	7005462	7005462	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr17:7005462G>T	uc002gep.3	-	7	984	c.717C>A	c.(715-717)gaC>gaA	p.D239E	ASGR2_uc002gen.1_Missense_Mutation_p.D220E|ASGR2_uc002geo.2_Missense_Mutation_p.D234E|ASGR2_uc002geq.3_Missense_Mutation_p.D215E|ASGR2_uc002ger.3_Missense_Mutation_p.D239E	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	239	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	p.T238>?(1)|p.T238T(1)|p.T238A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGCCATCACTGTCCGTGAGAC	0.458												
KIF19	124602	broad.mit.edu	37	17	72346919	72346919	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr17:72346919G>A	uc002jkm.4	+	11	1600	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	KIF19_uc002jkj.2_Missense_Mutation_p.D488N|KIF19_uc002jkk.2_Missense_Mutation_p.D446N|KIF19_uc002jkl.2_Missense_Mutation_p.D446N	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	488					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGCTAAGGACGACAGCGAGAA	0.637												
DSG3	1830	broad.mit.edu	37	18	29056162	29056162	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr18:29056162C>T	uc002kws.3	+	15	3048	c.2939C>T	c.(2938-2940)aCg>aTg	p.T980M	DSG3_uc002kwt.3_Missense_Mutation_p.T262M	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	980					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTGGCCCAACGCAGCTACGA	0.488												
ZBTB7C	201501	broad.mit.edu	37	18	45567452	45567452	+	Silent	SNP	A	A	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr18:45567452A>G	uc010dnv.3	-	2	529	c.93T>C	c.(91-93)atT>atC	p.I31I	ZBTB7C_uc002ldb.3_Silent_p.I9I|ZBTB7C_uc010dnu.3_Silent_p.I18I|ZBTB7C_uc010dnw.3_Silent_p.I9I|ZBTB7C_uc010dnx.1_Silent_p.I9I|ZBTB7C_uc010dny.1_Silent_p.I9I|ZBTB7C_uc010dnz.1_Silent_p.I31I|ZBTB7C_uc010doi.1_Silent_p.I9I|ZBTB7C_uc010doj.1_Silent_p.I18I|ZBTB7C_uc010dok.1_Silent_p.I58I|ZBTB7C_uc010dol.1_Silent_p.I18I|ZBTB7C_uc010doa.1_Silent_p.I31I|ZBTB7C_uc010dob.1_Silent_p.I9I|ZBTB7C_uc010doc.1_Silent_p.I18I|ZBTB7C_uc010dod.1_Silent_p.I31I|ZBTB7C_uc010doe.1_Silent_p.I9I|ZBTB7C_uc010dof.1_Silent_p.I9I|ZBTB7C_uc010dog.1_Silent_p.I9I|ZBTB7C_uc010doh.1_Silent_p.I18I|ZBTB7C_uc010dom.1_Silent_p.I18I|ZBTB7C_uc010don.1_Silent_p.I17I|ZBTB7C_uc010dop.1_Silent_p.I9I|ZBTB7C_uc010doq.1_Silent_p.I18I|ZBTB7C_uc010dor.1_Silent_p.I31I|ZBTB7C_uc010dos.1_Silent_p.I9I|ZBTB7C_uc010dot.1_Silent_p.I9I|ZBTB7C_uc010doo.1_Silent_p.I9I|ZBTB7C_uc010dou.1_Silent_p.I18I	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	9						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGGAATGCCAATGAGCTCAT	0.582												
CHAF1A	10036	broad.mit.edu	37	19	4409752	4409752	+	Missense_Mutation	SNP	G	G	A	rs112018734		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:4409752G>A	uc002mal.3	+	2	1056	c.956G>A	c.(955-957)cGc>cAc	p.R319H		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	319					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCCCTCCGCAGAGTGAGT	0.627								Chromatin Structure				
PAPL	390928	broad.mit.edu	37	19	39589268	39589268	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:39589268C>T	uc002oki.3	+	2	566	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	PAPL_uc010egl.3_Missense_Mutation_p.L98F	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	98						extracellular region	acid phosphatase activity|metal ion binding										CCGAGTCACGCTTCGCAAGCT	0.647												
PSG9	5678	broad.mit.edu	37	19	43766068	43766068	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:43766068T>C	uc002owd.4	-	2	752	c.653A>G	c.(652-654)gAa>gGa	p.E218G	PSG9_uc002owe.4_Missense_Mutation_p.E218G|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.E218G	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	218	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E218K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTTCCGTATTTCACATTCATA	0.512												
NLRP5	126206	broad.mit.edu	37	19	56539799	56539799	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:56539799C>T	uc002qmj.3	+	6	2200	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W	NLRP5_uc002qmi.3_Missense_Mutation_p.R715W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	734						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCGTATTTGCGGAAAATTCG	0.502												
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393												
TCF23	150921	broad.mit.edu	37	2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:27373157G>A	uc010ylg.2	+	1	446	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	130	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652												
PLB1	151056	broad.mit.edu	37	2	28764631	28764631	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:28764631G>A	uc002rmb.2	+	12	876	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	PLB1_uc010ezj.2_Missense_Mutation_p.V289M	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	278	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.T277T(2)|p.V278M(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCCTTCACCGTGGTTTTCCA	0.592												
RAB11FIP5	26056	broad.mit.edu	37	2	73315522	73315544	+	Frame_Shift_Del	DEL	AGCACTCAGCTCCTCCTGTCCAA	AGCACTCAGCTCCTCCTGTCCAA	-	rs138135562		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	uc002siu.4	-	2	1443_1465	c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT	c.(1201-1224)cttggacaggaggagctgagtgctfs	p.L401fs	RAB11FIP5_uc002sit.4_Frame_Shift_Del_p.L323fs	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	401					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.L406L(2)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTAGCCTGAGCACTCAGCTCCTCCTGTCCAAGCACTGCCTC	0.637												
TTN	7273	broad.mit.edu	37	2	179455353	179455353	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:179455353G>A	uc021vsy.1	-	252	53620	c.53395C>T	c.(53395-53397)Cgg>Tgg	p.R17799W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11494W|TTN_uc021vta.1_Missense_Mutation_p.R11427W|TTN_uc021vtb.1_Missense_Mutation_p.R11302W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18726	Ig-like 104.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATGGGCCGGCAAGCTTTT	0.433												
STAT1	6772	broad.mit.edu	37	2	191862974	191862974	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:191862974T>A	uc010fse.2	-	6	1034	c.602A>T	c.(601-603)aAg>aTg	p.K201M	STAT1_uc021vue.1_Intron|STAT1_uc002usj.2_Missense_Mutation_p.K201M|STAT1_uc002usk.2_Missense_Mutation_p.K201M|STAT1_uc002usl.2_Missense_Mutation_p.K203M|STAT1_uc010fsf.1_Intron	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	201					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.K201M(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TAAATACATCTTCTTGAGTAA	0.338												
COL6A3	1293	broad.mit.edu	37	2	238283533	238283533	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:238283533C>T	uc002vwl.2	-	7	3486	c.3201G>A	c.(3199-3201)gtG>gtA	p.V1067V	COL6A3_uc002vwo.2_Silent_p.V861V|COL6A3_uc010znj.1_Silent_p.V460V|COL6A3_uc002vwq.3_Silent_p.V861V|COL6A3_uc002vwr.3_Silent_p.V660V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1067	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCACCACGGCCACGCGGACCC	0.602												
LBP	3929	broad.mit.edu	37	20	36989406	36989406	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:36989406C>T	uc002xic.1	+	5	672	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	213					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.L213I(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACAGCCTTATCTCCAAACTCT	0.418												
SEMG2	6406	broad.mit.edu	37	20	43836503	43836503	+	Nonsense_Mutation	SNP	G	G	T	rs113377758	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:43836503G>T	uc010ggz.3	+						SEMG2_uc002xni.2_Nonsense_Mutation_p.G189*|SEMG2_uc002xnj.2_Nonsense_Mutation_p.G189*	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAAACAAGGCGGATCCCAAAG	0.388												
ZNF831	128611	broad.mit.edu	37	20	57769723	57769723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:57769723C>T	uc002yan.3	+	0	3649	c.3649C>T	c.(3649-3651)Cga>Tga	p.R1217*		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1217						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TAGCAGCCTCCGAGATGAGGG	0.627												
PKNOX1	5316	broad.mit.edu	37	21	44437070	44437070	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:44437070C>T	uc002zcq.1	+	5	763	c.575C>T	c.(574-576)cCg>cTg	p.P192L	PKNOX1_uc002zcp.1_Missense_Mutation_p.P192L|PKNOX1_uc011aex.1_Missense_Mutation_p.P75L|PKNOX1_uc002zcr.3_Missense_Mutation_p.P192L	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	192							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ATTGTGGTGCCGGCGTCCGCG	0.502												
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	-	A	rs149217788	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:45472274_45472275insA	uc002zea.3	+	3	568_569	c.399_400insA	c.(397-402)aagaaafs	p.K133fs	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Frame_Shift_Ins_p.K133fs	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	133					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.K133N(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356												
C21orf56	84221	broad.mit.edu	37	21	47588353	47588353	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:47588353C>T	uc011afu.2	-	2	1475	c.413G>A	c.(412-414)aGc>aAc	p.S138N	C21orf56_uc002zii.3_5'UTR	NM_001142854	NP_115637	Q9H0A9	CU056_HUMAN	Homo sapiens chromosome 21 open reading frame 56 (C21orf56), transcript variant 1, mRNA.	138							protein binding			kidney(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.241)		TTGCAAGGGGCTCAGGAGCGG	0.652												
FBLN2	2199	broad.mit.edu	37	3	13679197	13679197	+	Silent	SNP	C	C	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:13679197C>A	uc011avc.2	+	17	3856	c.3474C>A	c.(3472-3474)gcC>gcA	p.A1158A	FBLN2_uc011auz.2_Silent_p.A1137A|FBLN2_uc011avb.2_Silent_p.A1111A|FBLN2_uc011ava.2_Silent_p.A1158A	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1111	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCGCCAGCCTTCACGGGGG	0.622												
C3orf67	200844	broad.mit.edu	37	3	58849423	58849423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:58849423C>T	uc003dkt.1	-	11	1488	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	C3orf67_uc003dks.1_Missense_Mutation_p.R175Q|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.R175Q|C3orf67_uc003dkw.3_Missense_Mutation_p.R255Q	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	360										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGGTGCTGATCGTGGTCTTGA	0.473												
IQCB1	9657	broad.mit.edu	37	3	121489274	121489274	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:121489274G>A	uc010hre.1	-	14	1930	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	IQCB1_uc010hrf.1_Non-coding_Transcript|IQCB1_uc003eek.2_Missense_Mutation_p.S439F	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.	572					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CTCATCTCCAGATTCTTCTCC	0.448												
AMOTL2	51421	broad.mit.edu	37	3	134080563	134080563	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:134080563C>T	uc003eqf.2	-	5	1657	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	456										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCAGCTCGGCACGCCGC	0.652												
EPHB1	2047	broad.mit.edu	37	3	134920443	134920443	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:134920443A>G	uc003eqt.3	+	11	2633	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	EPHB1_uc003equ.3_Missense_Mutation_p.N314S	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	753	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.N753S(2)|p.N753N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATTCTGGTCAACAGTAACCTG	0.552												
TRIM59	286827	broad.mit.edu	37	3	160156161	160156161	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:160156161C>T	uc003fdm.3	-	2	1006	c.811G>A	c.(811-813)Gag>Aag	p.E271K	IFT80_uc003fda.3_Non-coding_Transcript|TRIM59_uc021xgt.1_Missense_Mutation_p.E271K	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Homo sapiens tripartite motif containing 59 (TRIM59), mRNA.	271						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGTTGAACCTCAGGAAGTGGT	0.363												
SPATA5	166378	broad.mit.edu	37	4	123868606	123868606	+	Silent	SNP	C	C	T	rs139834687	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:123868606C>T	uc003iez.4	+	8	1750	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y	SPATA5_uc003iey.3_Silent_p.Y558Y	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	559					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.Y559Y(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CTCATGGATACGTTGGAGCAG	0.468												
PHF17	79960	broad.mit.edu	37	4	129770286	129770286	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:129770286T>A	uc011cgy.2	+	4	762	c.448T>A	c.(448-450)Tgg>Agg	p.W150R	PHF17_uc003igj.3_Missense_Mutation_p.W150R|PHF17_uc003igk.3_Missense_Mutation_p.W150R|PHF17_uc003igl.3_Missense_Mutation_p.W138R|PHF17_uc003igm.3_Missense_Mutation_p.W150R	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	150					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGATGCTGCATGGCTGGAACT	0.468												
FNIP2	57600	broad.mit.edu	37	4	159789510	159789510	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:159789510C>T	uc003iqe.4	+	12	1905	c.1722C>T	c.(1720-1722)aaC>aaT	p.N574N		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	574	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGGTGAGGAACGAGCCCGCTC	0.537												
HEATR7B2	133558	broad.mit.edu	37	5	41052628	41052628	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:41052628C>T	uc003jmj.4	-	11	1659	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	390							binding	p.R390L(2)		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						CCATCCTTCCCGAGCTTCAAT	0.393												
TRPC7	57113	broad.mit.edu	37	5	135692669	135692669	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:135692669C>T	uc003lbn.2	-	1	629	c.407G>A	c.(406-408)cGc>cAc	p.R136H	TRPC7_uc010jef.2_Missense_Mutation_p.R127H|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R136H|TRPC7_uc010jei.2_Missense_Mutation_p.R136H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	136					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCGTCAGGCGCTGGCCCTG	0.672												
UNC5A	90249	broad.mit.edu	37	5	176304269	176304269	+	Silent	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:176304269G>A	uc003mey.3	+	8	1647	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	485	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACAAGCCGGAAGACGTGA	0.652												
ATXN1	6310	broad.mit.edu	37	6	16306892	16306892	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:16306892C>T	uc003nbt.3	-	8	3087	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	ATXN1_uc010jpi.3_Missense_Mutation_p.V706I|ATXN1_uc010jpj.1_Non-coding_Transcript	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	706	Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCAGCAGGACGCTGGCGGGA	0.582												
MICB	4277	broad.mit.edu	37	6	31474865	31474865	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:31474865C>T	uc003ntn.4	+	3	796	c.680C>T	c.(679-681)gCt>gTt	p.A227V	MICB_uc011dnm.2_Missense_Mutation_p.A195V|MICB_uc021yuq.1_Missense_Mutation_p.A195V|MICB_uc003nto.4_Missense_Mutation_p.A184V	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	227	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACATGCAGGGCTTCCAGCTTC	0.587												
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:43323502delT	uc003oux.3	-	3	1648	c.1570delA	c.(1570-1572)aggfs	p.R524fs	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	524					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493												
KATNA1	11104	broad.mit.edu	37	6	149918283	149918283	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:149918283A>C	uc003qmr.2	-	8	1238	c.1193T>G	c.(1192-1194)tTg>tGg	p.L398W	KATNA1_uc003qms.3_Missense_Mutation_p.L398W|KATNA1_uc003qmt.3_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	Homo sapiens katanin p60 (ATPase containing) subunit A 1 (KATNA1), transcript variant 1, mRNA.	398					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCCAATTCCAACTCACGTAG	0.388												
SYTL3	94120	broad.mit.edu	37	6	159178400	159178400	+	Missense_Mutation	SNP	C	C	T	rs147104644		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:159178400C>T	uc003qrp.3	+	14	1694	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L	SYTL3_uc003qrr.3_Missense_Mutation_p.P432L|SYTL3_uc003qro.3_Missense_Mutation_p.P364L|SYTL3_uc003qrs.3_Missense_Mutation_p.P364L|SYTL3_uc011efq.2_Missense_Mutation_p.P158L	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	432					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGCTGGCATCCGCTCCGGGCC	0.527												
MLLT4	4301	broad.mit.edu	37	6	168363130	168363130	+	Silent	SNP	G	G	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:168363130G>C	uc021zik.1	+	29	5020	c.4701G>C	c.(4699-4701)cgG>cgC	p.R1567R	MLLT4_uc003qwc.2_Silent_p.R1608R|MLLT4_uc021zij.1_Silent_p.R1593R|MLLT4_uc021zim.1_Silent_p.R1167R|MLLT4_uc003qwg.1_Silent_p.R919R|MLLT4_uc021zin.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1610					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACGAGGAGCGGAGGCGGCAGC	0.547			T	MLL	AL							
MLLT4	4301	broad.mit.edu	37	6	168363191	168363191	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:168363191G>C	uc021zik.1	+	29	5081	c.4762G>C	c.(4762-4764)Gag>Cag	p.E1588Q	MLLT4_uc003qwc.2_Missense_Mutation_p.E1629Q|MLLT4_uc021zij.1_Missense_Mutation_p.E1614Q|MLLT4_uc021zim.1_Missense_Mutation_p.E1188Q|MLLT4_uc003qwg.1_Missense_Mutation_p.E940Q|MLLT4_uc021zin.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1631	Asp/Glu-rich (acidic).				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGCGAGGCAAGAGGAAGAGCG	0.542			T	MLL	AL							
ABCB5	340273	broad.mit.edu	37	7	20689724	20689724	+	Translation_Start_Site	SNP	C	C	T	rs144527025	by1000genomes	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:20689724C>T	uc010kuh.3	+	11	1523	c.1286C>T	c.(1285-1287)aCg>aTg	p.T429M	ABCB5_uc003suw.4_5'UTR|ABCB5_uc003suv.4_5'UTR|ABCB5_uc011jyi.1_5'UTR	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	613	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGGAAGAGTACGGTAGTCCAG	0.468												
EGFR	1956	broad.mit.edu	37	7	55240707	55240707	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:55240707G>A	uc003tqk.3	+	16	2197	c.1951G>A	c.(1951-1953)Gtg>Atg	p.V651M	EGFR_uc022adm.1_Missense_Mutation_p.V651M|EGFR_uc010kzg.2_Missense_Mutation_p.V606M|EGFR_uc022adn.1_Missense_Mutation_p.V606M|EGFR_uc011kco.2_Missense_Mutation_p.V598M	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	651					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V651M(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACTGGGATGGTGGGGGCCCT	0.622		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
SEPT14	346288	broad.mit.edu	37	7	55874788	55874788	+	Silent	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:55874788T>A	uc003tqz.2	-	7	1098	c.981A>T	c.(979-981)ccA>ccT	p.P327P		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	327					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCACCTAACTGGCTGGTTGT	0.348												
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:56085002C>T	uc003trj.3	-	3	748	c.433G>A	c.(433-435)Gta>Ata	p.V145I	PSPH_uc003trh.3_Missense_Mutation_p.V116I|PSPH_uc003tri.3_Missense_Mutation_p.V116I	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	116					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393												
DYNC1I1	1780	broad.mit.edu	37	7	95499217	95499217	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:95499217G>A	uc003uoc.4	+	5	725	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	DYNC1I1_uc003uod.4_Missense_Mutation_p.V133M|DYNC1I1_uc003uob.3_Missense_Mutation_p.V113M|DYNC1I1_uc003uoe.4_Missense_Mutation_p.V130M|DYNC1I1_uc010lfl.3_Missense_Mutation_p.V139M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	150					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TAAACTGGGCGTGTCAAAGGT	0.453												
RABL5	64792	broad.mit.edu	37	7	100959700	100959700	+	Silent	SNP	C	C	T	rs145991606	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:100959700C>T	uc003uyl.3	-	3	433	c.330G>A	c.(328-330)ccG>ccA	p.P110P	RABL5_uc011kkk.2_Silent_p.P33P|RABL5_uc011kkl.2_Silent_p.P33P|RABL5_uc003uym.3_Silent_p.P80P|RABL5_uc010lhw.3_Non-coding_Transcript|RABL5_uc011kkm.2_Silent_p.P110P	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN	Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.	110							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CCTGTAAGGACGGCTGTTGGA	0.473												
LAMB4	22798	broad.mit.edu	37	7	107671256	107671256	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:107671256C>T	uc010ljo.1	-	31	5071	c.4987G>A	c.(4987-4989)Gag>Aag	p.E1663K	LAMB4_uc003vey.2_Missense_Mutation_p.E1663K|LAMB4_uc010ljp.1_Missense_Mutation_p.E632K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1663	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGACCTTCTCAAGACTCCCA	0.473												
BRAF	673	broad.mit.edu	37	7	140453148	140453148	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:140453148C>T	uc003vwc.4	-	14	1848	c.1787G>A	c.(1786-1788)gGt>gAt	p.G596D		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	596	Protein kinase.		G -> R (in a colorectal adenocarcinoma sample; somatic mutation).|G -> V (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.F595L(8)|p.G596R(6)|p.G596D(4)|p.F595S(3)|p.G596fs*2(1)|p.D594_T599del(1)|p.G596S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTAGCTAGACCAAAATCACC	0.388		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome			
ADAM9	8754	broad.mit.edu	37	8	38873654	38873654	+	Silent	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:38873654G>A	uc003xmr.3	+	4	429	c.351G>A	c.(349-351)cgG>cgA	p.R117R	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	117				Missing (in Ref. 2; no nucleotide entry).|R -> Q (in Ref. 4; BAA03499).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.R117L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTCATTATCGGGGCTATGTGG	0.338												
RP1	6101	broad.mit.edu	37	8	55539225	55539225	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:55539225C>A	uc003xsd.1	+	3	2931	c.2783C>A	c.(2782-2784)aCt>aAt	p.T928N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	928					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATATCCAACTTTAAAGCCT	0.328												
RALYL	138046	broad.mit.edu	37	8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:85774590G>A	uc003yct.4	+	5	646	c.512G>A	c.(511-513)cGt>cAt	p.R171H	RALYL_uc003ycq.4_Missense_Mutation_p.R158H|RALYL_uc003ycr.4_Missense_Mutation_p.R158H|RALYL_uc003ycs.4_Missense_Mutation_p.R158H|RALYL_uc010lzy.3_Missense_Mutation_p.R147H|RALYL_uc003ycu.4_Missense_Mutation_p.R85H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	158							identical protein binding|nucleotide binding|RNA binding	p.G171*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507												
COL22A1	169044	broad.mit.edu	37	8	139856384	139856384	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:139856384C>T	uc003yvd.3	-	3	1123	c.676G>A	c.(676-678)Gtt>Att	p.V226I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	226					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTACACGAACGCTAGGACAG	0.463										HNSCC(7;0.00092)		
C9orf131	138724	broad.mit.edu	37	9	35043416	35043416	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35043416G>A	uc003zvw.3	+	1	819	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	C9orf131_uc003zvu.3_Missense_Mutation_p.E216K|C9orf131_uc003zvv.3_Missense_Mutation_p.E191K|C9orf131_uc003zvx.3_Missense_Mutation_p.E229K	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	264										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGAAGATCTAGAAGGGATGGC	0.547												
C9orf131	138724	broad.mit.edu	37	9	35043985	35043985	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35043985G>C	uc003zvw.3	+	1	1388	c.1359G>C	c.(1357-1359)tgG>tgC	p.W453C	C9orf131_uc003zvu.3_Missense_Mutation_p.W405C|C9orf131_uc003zvv.3_Missense_Mutation_p.W380C|C9orf131_uc003zvx.3_Missense_Mutation_p.W418C	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	453										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGACACCATGGAAGGGCATGC	0.542												
RUSC2	9853	broad.mit.edu	37	9	35548294	35548294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35548294C>A	uc003zww.3	+	1	2031	c.1776C>A	c.(1774-1776)tgC>tgA	p.C592*	RUSC2_uc010mkq.3_Intron|RUSC2_uc003zwx.4_Nonsense_Mutation_p.C592*	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	592						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGCACTTGCTGTAGCCATA	0.637												
EXOSC3	51010	broad.mit.edu	37	9	37785036	37785036	+	Silent	SNP	G	G	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:37785036G>T	uc004aal.2	-	0	32	c.6C>A	c.(4-6)gcC>gcA	p.A2A	EXOSC3_uc010mly.1_Silent_p.A2A|EXOSC3_uc004aam.2_Silent_p.A2A	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN	Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA.	2					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		ACGCAGGTTCGGCCATCGCGG	0.662												
OR13F1	138805	broad.mit.edu	37	9	107266629	107266629	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:107266629C>T	uc011lvm.2	+	0	86	c.86C>T	c.(85-87)gCg>gTg	p.A29V		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A29A(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCATATTTGCGGTGTGCTTG	0.418												
