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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR4Q3	441669	broad.mit.edu	37	14	20216441	20216442	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20216441_20216442CC>TT	uc010tkt.2	+	0	855_856	c.855_856CC>TT	c.(853-858)cccctc>ccTTtc	p.L286F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTGAACCCCCTCATCTACAC	0.416000														39			17		0	0	0.004672	0	0
DHRS12	79758	broad.mit.edu	37	13	52373720	52373720	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:52373720C>A	uc001vfq.3	-	1	188	c.140G>T	c.(139-141)gGa>gTa	p.G47V	DHRS12_uc001vfr.1_Nonsense_Mutation_p.E26*|DHRS12_uc001vfs.1_Nonsense_Mutation_p.E26*			A0PJE2	DHR12_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 12 (DHRS12), transcript variant 2, mRNA.	47							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCTGTTTCCTCCAGTGACCAA	0.527000														85			36		1.03484e-13	1.05861e-13	0.005524	1	0
CELSR1	9620	broad.mit.edu	37	22	46860109	46860109	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:46860109G>A	uc003bhw.1	-	1	3678	c.3678C>T	c.(3676-3678)ctC>ctT	p.L1226L		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1226					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCACGAAGAGGGCCAGCA	0.602000														29			20		0	0	0.010504	0	0
ZNF718	255403	broad.mit.edu	37	4	59433	59433	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:59433G>A	uc003fzv.1	+	1	270	c.114G>A	c.(112-114)agG>agA	p.R38R	ZNF718_uc003fzt.4_Silent_p.R38R|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AGAACTACAGGAACCTGGTCT	0.438000														360			14		0	0	0.006122	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30298623	30298623	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:30298623C>T	uc010jrz.3	+	3	831	c.519C>T	c.(517-519)tcC>tcT	p.S173S	TRIM39-RPP21_uc003npz.3_Silent_p.S173S|TRIM39-RPP21_uc003nqb.3_Silent_p.S173S|TRIM39-RPP21_uc003nqc.3_Silent_p.S173S|TRIM39-RPP21_uc010jsa.2_Silent_p.S173S	NM_021253	NP_067076	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.	85						intracellular	zinc ion binding										GCTGCAAGTCCTCTGAGGAGA	0.517000														36			7		0	0	0.003080	0	0
COPG1	22820	broad.mit.edu	37	3	128976410	128976410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:128976410C>T	uc003els.3	+	8	777	c.677C>T	c.(676-678)cCc>cTc	p.P226L	COPG1_uc010htb.3_Missense_Mutation_p.P132L	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	226					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CTTAAGTCTCCCTTTGCCTAC	0.542000														102			47		0	0	0.003610	0	0
AL117485	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:18844888A>G	uc002zoe.3	+	3		c.2142A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCTCACGGAAATACAGCTTCA	0.587000														63			5		0	0	0.000602	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122172	12122172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:12122172C>T	uc003nac.3	+	3	2323	c.2144C>T	c.(2143-2145)aCc>aTc	p.T715I	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	715					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCTCTTGTCACCACGTCAACA	0.532000														38			5		0	0	0.001168	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:84117513G>A	uc003pjy.3	-	1	451	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_uc011dzb.2_Intron|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	62					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000														50			23		0	0	0.002780	0	0
CARD6	84674	broad.mit.edu	37	5	40853623	40853624	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:40853623_40853624AC>TT	uc003jmg.3	+	2	2264_2265	c.2189_2190AC>TT	c.(2188-2190)aac>aTT	p.N730I		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	730					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTTCTAGAGAACTCCTGGCTCT	0.500000														157			46		0	0	0.004672	0	0
TAB1	10454	broad.mit.edu	37	22	39777762	39777762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:39777762C>T	uc003axq.4	+	3	607	c.545C>T	c.(544-546)tCc>tTc	p.S182F	TAB1_uc003axr.3_Intron	NM_004711	NP_004702	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA.	229	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GCCCTCTTCTCCCAGGACTAC	0.687000														43			18		0	0	0.001882	0	0
PCSK5	5125	broad.mit.edu	37	9	78796501	78796501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:78796501G>A	uc004akc.2	+	15	2729	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	PCSK5_uc004ajz.3_Missense_Mutation_p.D731N|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Silent_p.R5R	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	731	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTCATATCAGGATACCAGTAA	0.433000														30			14		0	0	0.002450	0	0
USP1	7398	broad.mit.edu	37	1	62911009	62911009	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:62911009A>G	uc001daj.2	+	5	1486	c.1158A>G	c.(1156-1158)gaA>gaG	p.E386E	USP1_uc001dak.2_Silent_p.E386E|USP1_uc001dal.2_Silent_p.E386E	NM_001017415	NP_003359	O94782	UBP1_HUMAN	Homo sapiens ubiquitin specific peptidase 1 (USP1), transcript variant 2, mRNA.	386					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GGAAGTGTGAAAGTGATAACA	0.348000														20			6		0	0	0.001168	0	0
DNAH17	8632	broad.mit.edu	37	17	76540046	76540046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:76540046C>T	uc010dhp.2	-	16	2550	c.2425G>A	c.(2425-2427)Gac>Aac	p.D809N	DNAH17_uc002jvv.2_Missense_Mutation_p.D511N	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTTATTGTCCTTTCTTTCA	0.502000														54			55		0	0	0.003610	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311588	6311589	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:6311588_6311589CC>TT	uc002kmz.4	-	2	196_197	c.36_37GG>AA	c.(34-39)atggat>atAAat	p.12_13MD>IN	L3MBTL4_uc002kmy.4_Missense_Mutation_p.12_13MD>IN|L3MBTL4_uc010dkt.3_Missense_Mutation_p.12_13MD>IN	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	12					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCTTTGGAATCCATATTAAGCT	0.485000														138			40		0	0	0.004672	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503114	140503114	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140503114C>T	uc003lip.1	+	0	1534	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	512	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGGCCACCTGTTCGCCCT	0.692000														87			22		0	0	0.003271	0	0
NDST1	3340	broad.mit.edu	37	5	149901282	149901282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:149901282G>A	uc003lsk.4	+	1	968	c.466G>A	c.(466-468)Gac>Aac	p.D156N	NDST1_uc011dcj.2_Missense_Mutation_p.D156N|NDST1_uc003lsl.3_Missense_Mutation_p.D156N	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	156	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGCTGCTGGACAAGTACTG	0.587000														98			39		0	0	0.002852	0	0
IL12RB1	3594	broad.mit.edu	37	19	18191674	18191674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:18191674G>A	uc002nhx.1	-	4	548	c.497C>T	c.(496-498)tCt>tTt	p.S166F	IL12RB1_uc002nhw.1_Missense_Mutation_p.S126F|IL12RB1_uc010xqb.1_Missense_Mutation_p.S126F|IL12RB1_uc002nhy.3_Missense_Mutation_p.S126F	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	126	Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACCTCAGGAGACTTCTCTGT	0.582000														44			11		0	0	0.000978	0	0
abParts	0	broad.mit.edu	37	14	106790973	106790973	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106790973C>T	uc021ser.1	-	619		c.17419G>A								Parts of antibodies, mostly variable regions.																		AGGTTTGTGTCTGGGCGCACA	0.582000														67			37		0	0	0.004289	0	0
CHST1	8534	broad.mit.edu	37	11	45671428	45671428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:45671428G>A	uc021qgn.1	-	0	1046	c.1046C>T	c.(1045-1047)aCc>aTc	p.T349I	CHST1_uc001mys.2_Missense_Mutation_p.T349I	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	349					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GTTTCGCACGGTGCCGTATTT	0.667000														47			21		0	0	0.002780	0	0
SAMD3	154075	broad.mit.edu	37	6	130536361	130536361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:130536361C>T	uc003qbw.3	-	2	386	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SAMD3_uc003qbx.3_Missense_Mutation_p.E20K|SAMD3_uc010kfg.1_Missense_Mutation_p.E20K|SAMD3_uc003qby.3_Missense_Mutation_p.E20K|SAMD3_uc003qbz.1_5'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	20	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGAACTAGCTCTCCTAAATTT	0.393000														25			7		0	0	0.004482	0	0
LTN1	26046	broad.mit.edu	37	21	30304892	30304892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:30304892G>A	uc002ymr.2	-	27	5121	c.5108C>T	c.(5107-5109)cCa>cTa	p.P1703L		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1657							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGAACCCAGTGGATAATTTGA	0.418000														73			40		0	0	0.005524	0	0
RELN	5649	broad.mit.edu	37	7	103143606	103143606	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:103143606G>A	uc022ajr.1	-	51	8506	c.8346C>T	c.(8344-8346)ttC>ttT	p.F2782F	RELN_uc022ajq.1_Silent_p.F2782F|RELN_uc010liz.3_Silent_p.F2782F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2782					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F2782L(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTCACACCGAAGTCAGTAG	0.408000														32			9		0	0	0.006214	0	0
SUSD2	56241	broad.mit.edu	37	22	24583630	24583630	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:24583630C>T	uc002zzn.1	+	11	2027	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	661	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCCCACCTTCGAGCCCCTCT	0.572000														38			16		0	0	0.007413	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701850	8701850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:8701850G>A	uc002glp.2	-	0	818	c.589C>T	c.(589-591)Cat>Tat	p.H197Y		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	197						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCCCAGGGATGATCTTTCAGC	0.562000														59			24		0	0	0.002780	0	0
LRWD1	222229	broad.mit.edu	37	7	102110281	102110281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:102110281G>A	uc003uzn.3	+	10	1532	c.1394G>A	c.(1393-1395)gGc>gAc	p.G465D	MIR4467_uc022ajg.1_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	465					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GGCTGCGAGGGCGGCTGCTGC	0.711000														25			9		0	0	0.006214	0	0
MS4A2	2206	broad.mit.edu	37	11	59861027	59861027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:59861027C>T	uc001nop.3	+	4	635	c.533C>T	c.(532-534)tCc>tTc	p.S178F	MS4A2_uc009ymu.3_Missense_Mutation_p.S178F|MS4A2_uc021qka.1_Missense_Mutation_p.S133F	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	178					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GCTTCCTTTTCCACTGTATGT	0.408000														34			12		0	0	0.001368	0	0
ATP8A1	10396	broad.mit.edu	37	4	42592857	42592857	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:42592857G>A	uc003gwr.2	-	6	727	c.495C>T	c.(493-495)ctC>ctT	p.L165L	ATP8A1_uc003gws.2_Intron|ATP8A1_uc011byz.1_Silent_p.L165L	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	165					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GATCTGCTGGGAGATGTTCCC	0.458000														50			28		0	0	0.003271	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819328	12819328	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:12819328G>A	uc002gnr.4	+	5	714	c.387_splice	c.e5+1	p.E129_splice	ARHGAP44_uc010vvk.2_Splice_Site_p.E129_splice|ARHGAP44_uc010vvl.2_Splice_Site_p.E129_splice|ARHGAP44_uc002gns.4_Splice_Site|ARHGAP44_uc010vvm.2_Splice_Site_p.E129_splice|ARHGAP44_uc010vvn.2_Splice_Site	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	129	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGCTGGCGGAGGTAAGCAGCA	0.512000														14			12		0	0	0.001855	0	0
LLGL1	3996	broad.mit.edu	37	17	18143908	18143908	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:18143908C>T	uc002gsp.3	+	16	2284	c.2223C>T	c.(2221-2223)ccC>ccT	p.P741P		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	741					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ACCACGGGCCCACCATGTGGG	0.662000														116			39		0	0	0.002522	0	0
ROS1	6098	broad.mit.edu	37	6	117674322	117674322	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:117674322G>A	uc003pxp.1	-	25	4351	c.4152C>T	c.(4150-4152)acC>acT	p.T1384T	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1384					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGCTAACAAGGGTTTTTCCTG	0.308000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									30			9		0	0	0.004482	0	0
MRPS18C	51023	broad.mit.edu	37	4	84377272	84377272	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:84377272G>A	uc003hor.4	+	0	155	c.42G>A	c.(40-42)aaG>aaA	p.K14K	HELQ_uc003hom.3_5'Flank|HELQ_uc010ikb.3_5'Flank|HELQ_uc003hol.4_5'Flank|HELQ_uc010ikc.3_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	Homo sapiens mitochondrial ribosomal protein S18C (MRPS18C), nuclear gene encoding mitochondrial protein, mRNA.	14					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TAGGGAGGAAGAAGTTGACAC	0.547000														114			38		0	0	0.004878	0	0
NMT1	4836	broad.mit.edu	37	17	43182242	43182242	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:43182242T>C	uc002ihz.3	+	10	1366	c.1348T>C	c.(1348-1350)Ttc>Ctc	p.F450L		NM_021079	NP_066565	P30419	NMT1_HUMAN	Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA.	450					N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GTTTGATGTGTTCAATGCACT	0.483000														31			21		0	0	0.001882	0	0
PRDM9	56979	broad.mit.edu	37	5	23526679	23526679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:23526679G>A	uc003jgo.3	+	10	1664	c.1482G>A	c.(1480-1482)atG>atA	p.M494I		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	494					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGAATAATGGAAGAAGAGT	0.443000										HNSCC(3;0.000094)				13			11		0	0	0.008291	0	0
NWD1	284434	broad.mit.edu	37	19	16860477	16860478	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16860477_16860478CC>TT	uc002neu.4	+	5	1446_1447	c.1024_1025CC>TT	c.(1024-1026)ccc>TTc	p.P342F	NWD1_uc002net.4_Missense_Mutation_p.P207F|NWD1_uc002nev.4_Missense_Mutation_p.P136F|NWD1_uc021uqg.1_Missense_Mutation_p.P207F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	342	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACTCTTTGGGCCCCCAGGCATT	0.634000														24			10		0	0	0.004672	0	0
CCDC108	255101	broad.mit.edu	37	2	219870227	219870227	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:219870227G>A	uc002vjl.1	-	31	5064	c.4980C>T	c.(4978-4980)tcC>tcT	p.S1660S		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1660						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTGTTAGGGGATTTTTCCT	0.552000														49			14		0	0	0.001855	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:28284008C>T	uc009xky.3	-	1	162	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ARMC4_uc001itz.3_Missense_Mutation_p.E22K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	22							binding	p.E22K(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000														28			10		0	0	0.001368	0	0
KYNU	8942	broad.mit.edu	37	2	143713841	143713841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:143713841C>T	uc010fnm.3	+	6	721	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	KYNU_uc002tvk.3_Missense_Mutation_p.H169Y|KYNU_uc002tvl.3_Missense_Mutation_p.H169Y	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	169					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCCTTCTGATCATGTAAGGAC	0.343000														16			5		0	0	0.001168	0	0
CHKA	1119	broad.mit.edu	37	11	67832028	67832028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:67832028G>A	uc001onj.3	-	9	1410	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	CHKA_uc001onk.3_Missense_Mutation_p.S381F	NM_001277	NP_001268	P35790	CHKA_HUMAN	Homo sapiens choline kinase alpha (CHKA), transcript variant 1, mRNA.	399					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	TTTTATAATGGATTTTTCTTC	0.294000														10			4		0	0	0.009096	0	0
PRKACG	5568	broad.mit.edu	37	9	71628115	71628115	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:71628115G>A	uc004agy.3	-	0	925	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	298	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.F298L(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGGTTGTGGCGAACCACTTGT	0.567000														68			30		0	0	0.003755	0	0
FAM169A	26049	broad.mit.edu	37	5	74130407	74130407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:74130407C>T	uc003kdm.3	-	4	377	c.334G>A	c.(334-336)Gag>Aag	p.E112K	FAM169A_uc010izm.3_Missense_Mutation_p.E112K|FAM169A_uc003kdl.3_Intron	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	112										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ACCACTCTCTCCCCAAGAGTG	0.408000														13			3		0	0	0.009096	0	0
TTYH2	94015	broad.mit.edu	37	17	72248397	72248397	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:72248397A>T	uc002jkc.3	+	10	1172	c.1141A>T	c.(1141-1143)Atc>Ttc	p.I381F	TTYH2_uc010wqw.2_Missense_Mutation_p.I360F|TTYH2_uc002jkd.3_Missense_Mutation_p.I60F	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	381						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCTTGCTGGCATCTGCTACGA	0.622000														48			43		0	0	0.003214	0	0
ARAP3	64411	broad.mit.edu	37	5	141052692	141052692	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:141052692G>A	uc003llm.3	-	6	1059	c.981C>T	c.(979-981)ttC>ttT	p.F327F	ARAP3_uc011dbe.2_5'UTR|ARAP3_uc003lln.3_Silent_p.F249F|ARAP3_uc003llo.1_Silent_p.F327F	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	327	PH 1.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CACCCTTAGGGAAGGGGTCCT	0.552000														30			5		0	0	0.003080	0	0
CELSR1	9620	broad.mit.edu	37	22	46765589	46765589	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:46765589G>A	uc003bhw.1	-	26	7872	c.7872_splice	c.e26+1	p.I2624_splice	CELSR1_uc011arc.1_Splice_Site_p.H1090_splice	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2624					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACACTCACGATTATAACAG	0.622000														26			11		0	0	0.000978	0	0
TRPC7	57113	broad.mit.edu	37	5	135561043	135561043	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:135561043C>T	uc003lbn.2	-	10	2485	c.2263_splice	c.e10-1	p.K755_splice	TRPC7_uc010jef.2_Splice_Site_p.K691_splice|TRPC7_uc010jeg.2_Splice_Site|TRPC7_uc010jej.2_Splice_Site_p.K306_splice|TRPC7_uc010jeh.2_Splice_Site_p.K694_splice|TRPC7_uc010jei.2_Splice_Site_p.K639_splice	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	755					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)			AGCGAGTCTTCTGGATAAAAC	0.448000														9			6		0	0	0.003080	0	0
OR8B3	390271	broad.mit.edu	37	11	124266627	124266627	+	Silent	SNP	G	A	A	rs144139982		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:124266627G>A	uc010saj.2	-	0	621	c.621C>T	c.(619-621)atC>atT	p.I207I	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I207I(2)|p.N206T(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|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;0.0277)		TGGGTACCATGATATTAATAC	0.418000														101			38		0	0	0.004289	0	0
SLC39A8	64116	broad.mit.edu	37	4	103189132	103189132	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:103189132A>G	uc003hwb.1	-	5	1474	c.945T>C	c.(943-945)aaT>aaC	p.N315N	SLC39A8_uc011ceo.1_Silent_p.N315N|SLC39A8_uc003hwa.1_Silent_p.N248N|SLC39A8_uc003hwc.2_Silent_p.N315N	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	315						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CATCGATGAAATTGTGGAGGG	0.502000														55			19		0	0	0.007413	0	0
NHLRC3	387921	broad.mit.edu	37	13	39613751	39613751	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:39613751C>T	uc001uxc.3	+	2	610	c.288C>T	c.(286-288)ttC>ttT	p.F96F	PROSER1_uc001uwy.3_5'Flank|PROSER1_uc001uwz.3_5'Flank|NHLRC3_uc001uxd.3_Silent_p.F96F|NHLRC3_uc001uxe.3_5'UTR	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA.	96						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATGGATATTTCCTACGAGCCT	0.398000														29			15		0	0	0.003163	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407503	1407503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:1407503G>A	uc010nct.2	+	5	633	c.311G>A	c.(310-312)gGa>gAa	p.G104E	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.G104E|CSF2RA_uc004cpq.2_Missense_Mutation_p.G104E|CSF2RA_uc004cpn.2_Missense_Mutation_p.G104E|CSF2RA_uc004cpo.2_Missense_Mutation_p.G104E|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.G104E|CSF2RA_uc010ncv.2_Missense_Mutation_p.G104E|CSF2RA_uc004cpr.2_Missense_Mutation_p.G104E	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	104						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGTCAAAGAGGATTTCAACAG	0.443000														153			64		0	0	0.003610	0	0
KCNC2	3747	broad.mit.edu	37	12	75442073	75442073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:75442073C>T	uc001sxg.1	-	3	2184	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	KCNC2_uc009zry.3_Missense_Mutation_p.G547E|KCNC2_uc001sxe.3_Missense_Mutation_p.G547E|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	547					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGGCTCACTTCCTGTACTGTC	0.478000														27			15		0	0	0.004007	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848717	92848717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:92848717C>T	uc011khy.2	-	2	219	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	HEPACAM2_uc003uml.3_Missense_Mutation_p.G31S|HEPACAM2_uc010lff.3_Missense_Mutation_p.G31S|HEPACAM2_uc003umm.3_Missense_Mutation_p.G43S	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	43						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CCTCTGACGCCATGGACAGTG	0.512000														65			16		0	0	0.004007	0	0
HBS1L	10767	broad.mit.edu	37	6	135290425	135290425	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:135290425T>A	uc003qez.2	-	15	2056	c.1849A>T	c.(1849-1851)Att>Ttt	p.I617F	HBS1L_uc003qey.2_Missense_Mutation_p.I453F|HBS1L_uc011ecy.1_Missense_Mutation_p.I341F|HBS1L_uc011ecz.1_Missense_Mutation_p.I453F|HBS1L_uc011eda.1_Missense_Mutation_p.I575F	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	617					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AAGACACTAATCAATCGTTTA	0.338000														30			7		0	0	0.008291	0	0
FBXO38	81545	broad.mit.edu	37	5	147821539	147821539	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:147821539C>G	uc003lpf.1	+	21	3516	c.3396C>G	c.(3394-3396)atC>atG	p.I1132M	FBXO38_uc003lpg.1_Missense_Mutation_p.I1057M|FBXO38_uc003lph.2_Missense_Mutation_p.I887M	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	1132						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCACTATCTATGCTCCTA	0.383000														15			4		0	0	0.000602	0	0
ARL14	80117	broad.mit.edu	37	3	160395299	160395299	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:160395299A>G	uc003fdq.3	+	0	352	c.165A>G	c.(163-165)gaA>gaG	p.E55E		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	55					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TCGAGTTGGAAAGGAATCTTT	0.428000														35			12		0	0	0.001855	0	0
MLLT6	4302	broad.mit.edu	37	17	36878937	36878937	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:36878937A>G	uc002hqi.4	+	17	2812	c.2799A>G	c.(2797-2799)acA>acG	p.T933T	MLLT6_uc002hqk.4_Silent_p.T264T|MLLT6_uc021twh.1_Silent_p.T56T	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	933					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TCAGCCTTACAGAGCAGCAGA	0.637000			T	MLL	AL									20			4		0	0	0.009096	0	0
OVCH1	341350	broad.mit.edu	37	12	29617510	29617510	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:29617510G>A	uc001rix.1	-	17	2055	c.2055C>T	c.(2053-2055)ctC>ctT	p.L685L		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	685	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CGCTGTGTGGGAGACATACTG	0.458000														32			10		0	0	0.006214	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603627	28603627	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:28603627G>A	uc002dqg.2	-	6	1083	c.732C>T	c.(730-732)cgC>cgT	p.R244R	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Silent_p.R244R	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGAACTCCCGGCGGACGGTGG	0.607000														92			32		0	0	0.004878	0	0
KRT1	3848	broad.mit.edu	37	12	53070892	53070892	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:53070892T>A	uc001sau.1	-	5	1264	c.1205A>T	c.(1204-1206)aAt>aTt	p.N402I	KRT1_uc001sav.1_Missense_Mutation_p.N402I	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	402	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GATCACACGATTCAGCTCAGA	0.433000														28			11		0	0	0.008291	0	0
ABCA9	10350	broad.mit.edu	37	17	67016591	67016591	+	Silent	SNP	G	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:67016591G>C	uc002jhu.3	-	18	2681	c.2538C>G	c.(2536-2538)gtC>gtG	p.V846V	ABCA9_uc010dez.3_Silent_p.V846V	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	846					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTATTGCACAGACCTGCTGCC	0.423000														34			38		0	0	0.002522	0	0
THSD7B	80731	broad.mit.edu	37	2	138169301	138169301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:138169301C>T	uc002tva.1	+	12	2725	c.2725C>T	c.(2725-2727)Cca>Tca	p.P909S	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P799S	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGCATTCTTCCAGAAGGCAG	0.483000														45			30		0	0	0.009535	0	0
ANGPT1	284	broad.mit.edu	37	8	108264107	108264107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:108264107C>T	uc003ymn.3	-	8	1941	c.1473G>A	c.(1471-1473)atG>atA	p.M491I	ANGPT1_uc011lhv.2_Missense_Mutation_p.M291I|ANGPT1_uc003ymo.3_Missense_Mutation_p.M490I	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	491	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTCGAATCATCATAGTTGTGG	0.413000														37			17		0	0	0.004990	0	0
HERC2	8924	broad.mit.edu	37	15	28414666	28414666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:28414666G>A	uc001zbj.3	-	65	10299	c.10193C>T	c.(10192-10194)tCa>tTa	p.S3398L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3398					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGAATATGTGATAAGGCCTG	0.373000														10			13		0	0	0.001855	0	0
PDP2	57546	broad.mit.edu	37	16	66919126	66919126	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:66919126C>G	uc021tjw.1	+	0	939	c.939C>G	c.(937-939)aaC>aaG	p.N313K	PDP2_uc002eqk.2_Missense_Mutation_p.N313K	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	313					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		ATGCCTGGAACCAGGCCGAGC	0.592000														30			49		0	0	0.003610	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781298	128781298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:128781298G>A	uc001qet.3	+	1	444	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	KCNJ5_uc009zck.3_Missense_Mutation_p.A44T|KCNJ5_uc001qew.3_Missense_Mutation_p.A44T	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	44					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GCGCCTGCTGGCCGAGGGCAA	0.597000														50			28		0	0	0.008361	0	0
PFKL	5211	broad.mit.edu	37	21	45732069	45732069	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:45732069C>T	uc002zek.3	+	6	861	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	PFKL_uc002zel.3_Nonsense_Mutation_p.Q107*|PFKL_uc011afd.1_Nonsense_Mutation_p.Q154*			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	107					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAACCTGGTCCAGCACGGCAT	0.657000														4			3		0	0	0.009096	0	0
OTOF	9381	broad.mit.edu	37	2	26739411	26739411	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:26739411C>T	uc002rhk.3	-	4	511	c.384G>A	c.(382-384)tgG>tgA	p.W128*	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	128					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCATCGTCCCAGGAGCCCA	0.642000														54			29		0	0	0.009535	0	0
OR5D13	390142	broad.mit.edu	37	11	55541018	55541018	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:55541018C>T	uc010ril.2	+	0	105	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTTTCTTGTTCGTCTACACAG	0.398000														41			22		0	0	0.001882	0	0
GTSE1	51512	broad.mit.edu	37	22	46722511	46722511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:46722511C>T	uc011aqy.2	+	8	1896	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	GTSE1_uc011aqz.2_Missense_Mutation_p.R409W|GTSE1_uc003bhl.1_Missense_Mutation_p.R187W|GTSE1_uc003bhm.1_Missense_Mutation_p.R187W|GTSE1_uc003bhn.3_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	543					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.E562K(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGTGCCAGCTCGGAGACGTTC	0.597000														40			7		0	0	0.001984	0	0
LCT	3938	broad.mit.edu	37	2	136570092	136570092	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:136570092G>A	uc002tuu.1	-	6	2153	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	714	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCACACATGGTTCACGTGTT	0.537000														38			20		0	0	0.010504	0	0
RAB4A	5867	broad.mit.edu	37	1	229431640	229431640	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:229431640C>T	uc001hth.3	+	3	481	c.273C>T	c.(271-273)ctC>ctT	p.L91L		NM_004578	NP_004569	P20338	RAB4A_HUMAN	Homo sapiens RAB4A, member RAS oncogene family (RAB4A), mRNA.	86							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				GGGCTCTCCTCGTCTATGATA	0.552000														26			14		0	0	0.003163	0	0
ANO2	57101	broad.mit.edu	37	12	5915235	5915235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:5915235C>T	uc001qnm.2	-	8	1033	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	326						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCATTCATATCGTCCTCTGGA	0.478000														16			4		0	0	0.000602	0	0
MYH6	4624	broad.mit.edu	37	14	23869930	23869930	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:23869930G>A	uc001wjv.3	-	12	1469	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	MYH6_uc010akp.2_Silent_p.F466F	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	466	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGAAGATCTCGAAGCCAGCGA	0.552000														32			12		0	0	0.001855	0	0
OR5H6	79295	broad.mit.edu	37	3	97983363	97983363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:97983363C>T	uc003dsi.1	+	0	235	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTACTTATTCCTTGGGAGTTT	0.413000														66			41		0	0	0.008740	0	0
OTOR	56914	broad.mit.edu	37	20	16730641	16730641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:16730641G>A	uc002wpj.3	+	2	393	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.	117					sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AGCTACCAAGGAAGTTCCCAC	0.488000														18			8		0	0	0.003080	0	0
DPH1	1801	broad.mit.edu	37	17	1943834	1943834	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:1943834C>T	uc010vqs.2	+	7	993	c.987C>T	c.(985-987)tcC>tcT	p.S329S	DPH1_uc002fts.3_Silent_p.S319S|DPH1_uc002ftt.3_Silent_p.S303S|DPH1_uc010cjx.3_Silent_p.S179S|DPH1_uc002ftv.3_Silent_p.S75S|DPH1_uc002ftw.3_Silent_p.S47S|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	319					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGGGCCTTTCCTTTGTGAGGC	0.567000														42			19		0	0	0.010504	0	0
DNAH7	56171	broad.mit.edu	37	2	196749415	196749415	+	Missense_Mutation	SNP	C	T	T	rs13034775		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:196749415C>T	uc002utj.4	-	34	5758	c.5657G>A	c.(5656-5658)cGa>cAa	p.R1886Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1886			R -> Q (in dbSNP:rs13034775).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1886R(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAACGTATTTCGAGTTCGATC	0.358000														28			10		0	0	0.008291	0	0
PTPRF	5792	broad.mit.edu	37	1	44085233	44085233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:44085233C>T	uc001cjr.3	+	27	5261	c.4921C>T	c.(4921-4923)Ctc>Ttc	p.L1641F	PTPRF_uc001cjs.3_Missense_Mutation_p.L1632F|PTPRF_uc001cju.3_Missense_Mutation_p.L1030F|PTPRF_uc009vwt.3_Missense_Mutation_p.L1201F|PTPRF_uc001cjv.3_Missense_Mutation_p.L1112F|PTPRF_uc001cjw.3_Missense_Mutation_p.L867F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1641	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCCATGGAGCTCGAGTTCAA	0.652000														35			18		0	0	0.002780	0	0
SAMD9	54809	broad.mit.edu	37	7	92735076	92735076	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:92735076T>C	uc003umf.3	-	2	605	c.335A>G	c.(334-336)cAa>cGa	p.Q112R	SAMD9_uc003umg.3_Missense_Mutation_p.Q112R|SAMD9_uc022ahg.1_Missense_Mutation_p.Q112R	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	112						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTTGTTTTTGCTTTGAAGT	0.383000														75			5		0	0	0.000602	0	0
AX746964	0	broad.mit.edu	37	5	140242883	140242883	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140242883C>T	uc003lhy.1	-	0	342	c.93G>A	c.(91-93)gcG>gcA	p.A31A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399;																		ACCTGATCATCGCCATCTGCG	0.647000														26			8		0	0	0.006214	0	0
PNKP	11284	broad.mit.edu	37	19	50370417	50370417	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:50370417G>A	uc002pqj.3	-	1	155	c.45C>T	c.(43-45)ccC>ccT	p.P15P	PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Silent_p.P15P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	15					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CTCCCCCAGGGGGGCTCTCGA	0.711000								Other BER factors						20			5		0	0	0.000602	0	0
OPRK1	4986	broad.mit.edu	37	8	54141901	54141901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:54141901G>A	uc003xrh.1	-	2	1474	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	OPRK1_uc022aup.1_Missense_Mutation_p.P247S|OPRK1_uc003xri.1_Missense_Mutation_p.P367S|OPRK1_uc010lyc.1_Missense_Mutation_p.P278S	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	367					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGGTAAGCAGGATCCTGAACT	0.478000														44			11		0	0	0.000978	0	0
KRT83	3889	broad.mit.edu	37	12	52715014	52715014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:52715014G>A	uc001saf.2	-	0	169	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	36	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGCGGTAGGGGGCGGCGGTG	0.701000														47			17		0	0	0.010504	0	0
FUT8	2530	broad.mit.edu	37	14	66028473	66028473	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:66028473C>T	uc001xin.3	+	2	1919	c.192C>T	c.(190-192)gcC>gcT	p.A64A	FUT8_uc001xio.3_Silent_p.A64A|FUT8_uc010tsp.2_Intron|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Silent_p.A64A|FUT8_uc001xiq.3_Intron	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	64					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GGCGAATGGCCGAATCTCTCC	0.403000														15			7		0	0	0.003080	0	0
MMP13	4322	broad.mit.edu	37	11	102824925	102824925	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:102824925G>A	uc001phl.3	-	3	626	c.597C>T	c.(595-597)gcC>gcT	p.A199A		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	199					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CATCAAAATGGGCATCTCCTC	0.423000														29			6		0	0	0.001984	0	0
ZNF831	128611	broad.mit.edu	37	20	57768850	57768850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:57768850C>T	uc002yan.3	+	0	2776	c.2776C>T	c.(2776-2778)Cct>Tct	p.P926S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	926						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)					ACCTCAGGCTCCTAGAGTGCT	0.642000														26			10		0	0	0.008291	0	0
NBPF14	25832	broad.mit.edu	37	1	148252068	148252068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:148252068G>A	uc001erd.4	-	18	2482	c.2411C>T	c.(2410-2412)tCa>tTa	p.S804L	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Intron|NBPF14_uc021owj.1_Missense_Mutation_p.S450L|NBPF14_uc021owk.1_Missense_Mutation_p.S206L|NBPF14_uc021owl.1_Missense_Mutation_p.S694L|NBPF14_uc001erb.3_Missense_Mutation_p.S418L|NBPF14_uc001erc.4_Non-coding_Transcript|NBPF14_uc010paj.2_Missense_Mutation_p.S303L			Q5TI25	NBPFE_HUMAN	SubName: Full=Uncharacterized protein;	445	NBPF 9.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TCCATCCAGTGAGTCCTGTAA	0.448000														151			48		0	0	0.003610	0	0
PRB4	5545	broad.mit.edu	37	12	11462321	11462321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:11462321G>A	uc001qzf.1	-	1	117	c.83C>T	c.(82-84)tCt>tTt	p.S28F	PRB4_uc001qzt.3_Missense_Mutation_p.S28F	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	28				S -> P (in Ref. 5; AA sequence).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TAGGAAGAGAGATTCTTCCTG	0.378000										HNSCC(22;0.051)				38			14		0	0	0.002450	0	0
OR51D1	390038	broad.mit.edu	37	11	4661821	4661821	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:4661821C>T	uc010qyk.2	+	0	877	c.801C>T	c.(799-801)ccC>ccT	p.P267P		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTATGTACCCCTCATTGGGC	0.557000														61			36		0	0	0.003755	0	0
TRAIP	10293	broad.mit.edu	37	3	49878425	49878425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:49878425C>T	uc003cxs.1	-	7	804	c.698G>A	c.(697-699)aGa>aAa	p.R233K	TRAIP_uc010hla.1_Intron	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	233	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTGCTTCTGGAGGAAAA	0.507000											OREG0015575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			28		0	0	0.008361	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587994	68587994	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:68587994G>A	uc003dnd.3	+	3	563	c.347G>A	c.(346-348)tGg>tAg	p.W116*	FAM19A1_uc003dne.3_Nonsense_Mutation_p.W116*|FAM19A1_uc003dng.3_Nonsense_Mutation_p.W116*	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	116						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		AATTCTGGATGGATGTGCGCA	0.428000														28			9		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179642167	179642167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179642167G>A	uc021vsy.1	-	25	4850	c.4625C>T	c.(4624-4626)tCa>tTa	p.S1542L	TTN_uc021vsz.1_Missense_Mutation_p.S1496L|TTN_uc021vta.1_Missense_Mutation_p.S1496L|TTN_uc021vtb.1_Missense_Mutation_p.S1496L|TTN_uc002unb.2_Missense_Mutation_p.S1542L|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1542	Ig-like 6.						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)			TAAAATCACTGAAATTGAAGA	0.383000														10			8		0	0	0.003080	0	0
FAM83B	222584	broad.mit.edu	37	6	54805265	54805265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:54805265C>T	uc003pck.3	+	4	1612	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	499										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGAATTGAATCCTACTTAAAT	0.403000														44			13		0	0	0.001855	0	0
KCNH2	3757	broad.mit.edu	37	7	150648080	150648080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:150648080G>A	uc003wic.3	-	7	2475	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	KCNH2_uc003wib.3_Missense_Mutation_p.P352S|KCNH2_uc011kux.2_Missense_Mutation_p.P596S|KCNH2_uc003wid.3_Missense_Mutation_p.P352S|KCNH2_uc003wie.3_Missense_Mutation_p.P692S	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	692					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGGCGCAGGGGATTGGGGATC	0.647000														29			18		0	0	0.007413	0	0
PCDH18	54510	broad.mit.edu	37	4	138452734	138452734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:138452734G>A	uc003ihe.4	-	0	896	c.509C>T	c.(508-510)tCc>tTc	p.S170F	PCDH18_uc003ihf.4_Missense_Mutation_p.S163F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	170	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTGTGGAGGGAATTTTCCCC	0.458000														22			9		0	0	0.006214	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241098	60241098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:60241098G>A	uc003jsp.4	+	0	143	c.16G>A	c.(16-18)Gat>Aat	p.D6N	NDUFAF2_uc003jso.4_Non-coding_Transcript|ERCC8_uc003jsm.3_5'Flank|ERCC8_uc003jsl.3_5'Flank|ERCC8_uc011cqp.1_5'Flank|ERCC8_uc003jsn.3_5'Flank	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.	6						membrane|mitochondrion	NADH dehydrogenase (ubiquinone) activity|electron carrier activity	p.D6Y(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TTGGTCTCAGGATTTGTTCCG	0.607000														11			6		0	0	0.001168	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839962	40839962	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:40839962C>T	uc002iay.3	+	7	1485	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	423	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACGTGTCCATCGCGCAGAGCG	0.617000														83			23		0	0	0.003954	0	0
TMCO7	79613	broad.mit.edu	37	16	68941384	68941384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:68941384C>T	uc002ewi.4	+	9	1718	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	569						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CAGAAGGTATCCTCTGAGCAG	0.473000														139			86		0	0	0.003610	0	0
MKL2	57496	broad.mit.edu	37	16	14306259	14306259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:14306259G>A	uc010uza.2	+	4	424	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	MKL2_uc002dcg.3_Missense_Mutation_p.R90Q|MKL2_uc002dch.3_Missense_Mutation_p.R79Q|MKL2_uc010uzb.2_Missense_Mutation_p.R39Q	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	79					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTTGGAACGAGCCAGAGTA	0.388000														24			14		0	0	0.001855	0	0
OR8B8	26493	broad.mit.edu	37	11	124310337	124310337	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:124310337G>A	uc010sal.2	-	0	645	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|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;0.0277)		CATAGGAAATGAAGATGGTGA	0.483000														58			20		0	0	0.001882	0	0
TDRD5	163589	broad.mit.edu	37	1	179599910	179599910	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:179599910T>C	uc010pnp.2	+	6	1499	c.981T>C	c.(979-981)ttT>ttC	p.F327F	TDRD5_uc021pfm.1_Silent_p.F327F|TDRD5_uc001gnf.2_Silent_p.F327F|TDRD5_uc021pfn.1_Silent_p.F327F|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	327	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGTAATTTTTAAAGAGCAAC	0.328000														22			13		0	0	0.001855	0	0
KCNIP4	80333	broad.mit.edu	37	4	21950252	21950252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:21950252C>T	uc021xmt.1	-	0	123	c.3G>A	c.(1-3)atG>atA	p.M1I	KCNIP4_uc003gqi.1_5'UTR|KCNIP4_uc021xmu.1_Missense_Mutation_p.M1I	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	1						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCCTCACATTCATGTCTAGGG	0.667000														16			8		0	0	0.006214	0	0
IARS2	55699	broad.mit.edu	37	1	220284190	220284190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:220284190C>T	uc001hmc.3	+	10	1494	c.1390C>T	c.(1390-1392)Ccg>Tcg	p.P464S	RNU5F-1_uc021pjd.1_Intron	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	464					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GCATAGCTATCCGTATGACTG	0.358000														13			10		0	0	0.006214	0	0
APOB	338	broad.mit.edu	37	2	21229685	21229685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:21229685G>A	uc002red.3	-	25	10183	c.10055C>T	c.(10054-10056)aCc>aTc	p.T3352I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3352					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAGCATTGGTATTCAGTGT	0.373000														266			109		0	0	0.003610	0	0
THRB	7068	broad.mit.edu	37	3	24164584	24164584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:24164584C>T	uc003ccz.4	-	11	1697	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	THRB_uc010hfe.3_Missense_Mutation_p.E393K|THRB_uc003ccy.4_Missense_Mutation_p.E393K|THRB_uc003ccx.4_Missense_Mutation_p.E393K	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	393	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGTACTTTTCTATTCTCTCA	0.473000														50			20		0	0	0.010504	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989825	64989825	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:64989825C>T	uc021rul.1	+	0	1603	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*	ZBTB1_uc001xhh.4_Nonsense_Mutation_p.R535*|ZBTB1_uc010aqg.3_Nonsense_Mutation_p.R535*|ZBTB1_uc001xhi.2_Nonsense_Mutation_p.R535*|ZBTB1_uc021rum.1_5'Flank	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R535*(2)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CTGCCCTTTTCGATGTCCTAA	0.363000														68			30		0	0	0.004289	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665272	6665272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:6665272C>T	uc002mfk.2	-	4	770	c.388G>A	c.(388-390)Gat>Aat	p.D130N	TNFSF14_uc002mfj.2_Missense_Mutation_p.D94N	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	130					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGGGCCCCATCGTGGTAGCTG	0.652000														23			11		0	0	0.008291	0	0
RASAL3	64926	broad.mit.edu	37	19	15574876	15574876	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:15574876C>T	uc002nbe.2	-	1	380	c.294G>A	c.(292-294)ccG>ccA	p.P98P		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	98	Pro-rich.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.P98P(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGTCTGGCTCCGGCGGTGGGT	0.657000														19			10		0	0	0.000978	0	0
GHR	2690	broad.mit.edu	37	5	42565968	42565968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:42565968C>T	uc021xxv.1	+	1	150	c.13C>T	c.(13-15)Cct>Tct	p.P5S	GHR_uc003jmt.3_5'UTR|GHR_uc003jmu.3_5'UTR|GHR_uc003jmv.2_5'UTR|GHR_uc021xxw.1_5'UTR|GHR_uc021xxx.1_5'UTR|GHR_uc021xxy.1_5'UTR|GHR_uc021xxz.1_5'UTR|GHR_uc021xya.1_5'UTR|GHR_uc021xyb.1_5'UTR|GHR_uc021xyc.1_5'UTR|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_5'UTR	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	0					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GATTGCAGGTCCTACAGGTAT	0.438000														56			22		0	0	0.001882	0	0
DSC2	1824	broad.mit.edu	37	18	28671022	28671022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:28671022G>A	uc002kwl.4	-	3	897	c.443C>T	c.(442-444)tCc>tTc	p.S148F	DSC2_uc002kwk.4_Missense_Mutation_p.S148F	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	148	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGGACCCAAGGAGTTTTCTAG	0.403000														15			4		0	0	0.000602	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060780	58060780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:58060780C>T	uc021rtp.1	-	1	215	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTACTGATGCCACTGTGTGAA	0.493000														17			7		0	0	0.004482	0	0
PNN	5411	broad.mit.edu	37	14	39644500	39644500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:39644500G>A	uc001wuw.4	+	0	114	c.17G>A	c.(16-18)aGa>aAa	p.R6K		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	6	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GTCGCCGTGAGAACTTTGCAG	0.592000														9			4		0	0	0.000602	0	0
SCN3A	6328	broad.mit.edu	37	2	166003341	166003341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:166003341C>T	uc002ucx.3	-	11	2071	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	SCN3A_uc002ucy.3_Missense_Mutation_p.E527K|SCN3A_uc002ucz.3_Missense_Mutation_p.E527K|SCN3A_uc002uda.1_Missense_Mutation_p.E396K|SCN3A_uc002udb.1_Missense_Mutation_p.E396K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	527						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S526P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCTTCAGATTCGGATTTGGGA	0.438000														75			24		0	0	0.003954	0	0
INPPL1	3636	broad.mit.edu	37	11	71944756	71944756	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:71944756T>C	uc001osf.3	+	18	2327	c.2180T>C	c.(2179-2181)gTt>gCt	p.V727A	INPPL1_uc001osg.3_Missense_Mutation_p.V485A	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	727					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACATTTGAGGTTGGAGTTACC	0.542000														60			18		0	0	0.002780	0	0
SPANXE	171489	broad.mit.edu	37	X	140785801	140785801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:140785801G>A	uc004fbq.3	-	1	208	c.115C>T	c.(115-117)Ccg>Tcg	p.P39S		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	39						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					AGTTTTTTCGGAGCAGGTTGC	0.483000														23			35		0	0	0.003755	0	0
DMD	1756	broad.mit.edu	37	X	32632560	32632560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:32632560C>T	uc004dda.1	-	11	1586	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	DMD_uc004dcz.2_Missense_Mutation_p.V325I|DMD_uc004dcy.1_Missense_Mutation_p.V444I|DMD_uc004ddb.1_Missense_Mutation_p.V440I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.V440I|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	448					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCATTAAAACTCTATGTAAA	0.323000														3			5		0	0	0.000602	0	0
OR8D4	338662	broad.mit.edu	37	11	123778024	123778024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:123778024G>A	uc010saa.2	+	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GAGGAACAATGAAGTAAGAAA	0.323000														21			11		0	0	0.001368	0	0
SEMG2	6407	broad.mit.edu	37	20	43850392	43850392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:43850392C>T	uc010ggz.3	+	1	176	c.119C>T	c.(118-120)cCa>cTa	p.P40L	SEMG2_uc002xnk.3_Missense_Mutation_p.P40L|SEMG2_uc002xnl.3_Missense_Mutation_p.P40L	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	40					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)				TCCCAATTTCCACATGGACAA	0.388000														45			11		0	0	0.001368	0	0
NUDC	10726	broad.mit.edu	37	1	27269436	27269436	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:27269436C>T	uc001bng.1	+	5	737	c.621C>T	c.(619-621)ctC>ctT	p.L207L	BC016143_uc021ojq.1_Intron	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.	207	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGCGGCACCTCCGGGTGGGGC	0.602000														40			26		0	0	0.004656	0	0
LOC81691	81691	broad.mit.edu	37	16	20857542	20857542	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:20857542G>A	uc002dhy.4	+	19	2500	c.2125_splice	c.e19-1	p.T709_splice	ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Splice_Site_p.T709_splice|LOC81691_uc002dhx.3_Splice_Site_p.T678_splice	NM_001199053	NP_001185982	Q96IC2	REXON_HUMAN	Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA.	709						nucleolus	RNA binding|exonuclease activity|nucleotide binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1)	18						TTTGATCCCAGACTCTGAAAC	0.547000														111			48		0	0	0.003610	0	0
GPR55	9290	broad.mit.edu	37	2	231775585	231775585	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:231775585G>A	uc021vxz.1	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Silent_p.F31F|GPR55_uc010fxs.1_Silent_p.F31F	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	31					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GGCCCAGGACGAAGGTGGGGA	0.532000														35			20		0	0	0.010504	0	0
CADM2	253559	broad.mit.edu	37	3	85851313	85851313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:85851313G>A	uc003dql.3	+	1	184	c.184G>A	c.(184-186)Gct>Act	p.A62T	CADM2_uc003dqj.3_Missense_Mutation_p.A60T|CADM2_uc003dqk.3_Missense_Mutation_p.A69T|CADM2_uc003dqm.2_5'UTR|CADM2_uc021xay.1_5'UTR|CADM2_uc021xaz.1_5'UTR|CADM2_uc021xba.1_Intron	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	60	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTCAAATCCAGCTCAACAGAC	0.353000														17			11		0	0	0.000978	0	0
GSTA1	2938	broad.mit.edu	37	6	52657738	52657738	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:52657738G>C	uc003paz.3	-	5	574	c.462C>G	c.(460-462)agC>agG	p.S154R	GSTA1_uc021zan.1_Missense_Mutation_p.S154R	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	154	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TGTCAGCCCGGCTCAGCTTGT	0.517000														93			37		0	0	0.005524	0	0
OR2L2	26246	broad.mit.edu	37	1	248201644	248201644	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:248201644C>T	uc001idw.3	+	0	171	c.75C>T	c.(73-75)ttC>ttT	p.F25F	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTGGCCTTTTCGTATTCACCC	0.378000														80			29		0	0	0.008361	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003415	75003415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:75003415C>T	uc004ecj.2	-	0	1665	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	491	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTCTGTGGTCGCTTTCTGTA	0.478000														11			14		0	0	0.003163	0	0
abParts	0	broad.mit.edu	37	14	106899331	106899331	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106899331C>T	uc021ser.1	-	374		c.12297G>A								Parts of antibodies, mostly variable regions.																		ACCAGCTGCACCTCACACTGG	0.522000														54			15		0	0	0.004990	0	0
ACE	1636	broad.mit.edu	37	17	61558997	61558997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:61558997C>T	uc002jau.2	+	6	1050	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	ACE_uc010wpi.2_Missense_Mutation_p.P339L|ACE_uc010ddu.2_Missense_Mutation_p.P156L	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	339	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCCCCCATGCCTCCCGAGTTC	0.642000														44			13		0	0	0.001855	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909132	32909132	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:32909132T>A	uc003tdb.2	-	3	2356	c.1697A>T	c.(1696-1698)cAt>cTt	p.H566L	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	566										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TTCAGATATATGCTGCCGCAG	0.478000														56			26		0	0	0.003954	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748110	41748111	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:41748110_41748111GG>AA	uc003gwf.4	-	2	1018_1019	c.658_659CC>TT	c.(658-660)ccg>TTg	p.P220L		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	220					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G216fs*88(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						agctccagccgggctgggcccg	0.817000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					24			10		0	0	0.004672	0	0
L1TD1	54596	broad.mit.edu	37	1	62672651	62672651	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:62672651G>A	uc021ooc.1	+	3	786	c.351G>A	c.(349-351)ggG>ggA	p.G117G	L1TD1_uc001dae.4_Silent_p.G117G	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	117								p.G117W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ggatggtagggaaaatagaag	0.328000														66			16		0	0	0.008871	0	0
C15orf2	23742	broad.mit.edu	37	15	24921643	24921643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:24921643G>A	uc001ywo.3	+	0	1103	c.629G>A	c.(628-630)gGa>gAa	p.G210E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	210					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCTGGAGGGAAATGTCTAC	0.612000														32			7		0	0	0.003080	0	0
IL36B	27177	broad.mit.edu	37	2	113786542	113786542	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:113786542G>A	uc002tiq.1	-	3	339	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	IL36B_uc002tir.1_Nonsense_Mutation_p.Q79*	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	79					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						GGCTTGCCCTGAATTTCTGCA	0.398000														41			21		0	0	0.005443	0	0
SSPO	23145	broad.mit.edu	37	7	149486764	149486764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:149486764G>A	uc010lpk.3	+	30	4538	c.4538G>A	c.(4537-4539)gGa>gAa	p.G1513E		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1513	LDL-receptor class A 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGTGACGGAGTCTGGGAC	0.657000														9			5		0	0	0.000602	0	0
OR5H1	26341	broad.mit.edu	37	3	97851821	97851821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:97851821C>T	uc011bgt.2	+	0	280	c.280C>T	c.(280-282)Ctc>Ttc	p.L94F		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GATGATATCTCTCTCTGAATG	0.398000														76			29		0	0	0.004878	0	0
CDC40	51362	broad.mit.edu	37	6	110551240	110551240	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:110551240A>T	uc003pua.3	+	14	1707	c.1646A>T	c.(1645-1647)cAt>cTt	p.H549L		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	549					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTTAAAGCTCATGATAAAGTG	0.373000														36			12		0	0	0.001368	0	0
SCN10A	6336	broad.mit.edu	37	3	38835276	38835276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38835276C>T	uc003ciq.3	-	0	226	c.226G>A	c.(226-228)Ggg>Agg	p.G76R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	76					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGGGCTCCCCGATCAGTTCT	0.562000														88			35		0	0	0.004289	0	0
abParts	0	broad.mit.edu	37	14	107099352	107099352	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:107099352C>T	uc021ser.1	-	105		c.4736G>A								Parts of antibodies, mostly variable regions.																		GAAGGTGAATCCAGAGGCTGC	0.552000														34			11		0	0	0.000978	0	0
LCE1A	353131	broad.mit.edu	37	1	152800122	152800123	+	Missense_Mutation	DNP	CG	TT	TT	rs141081392	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152800122_152800123CG>TT	uc010pdw.2	+	0	174_175	c.174_175CG>TT	c.(172-177)ggcggc>ggTTgc	p.G59C		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	59	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTCTGGGGGCGGCTGCAGCTC	0.668000														51			6		0	0	0.004672	0	0
KRT17	3872	broad.mit.edu	37	17	39776926	39776926	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:39776926T>A	uc002hxh.2	-	5	1287	c.1166A>T	c.(1165-1167)gAg>gTg	p.E389V	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	389	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				ATCCTCTCCCTCCAGCAGGCG	0.607000														39			10		0	0	0.000978	0	0
BPIFA3	128861	broad.mit.edu	37	20	31805433	31805433	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:31805433C>T	uc002wyr.3	+	0	299	c.91C>T	c.(91-93)Caa>Taa	p.Q31*	BPIFA3_uc002wys.3_Nonsense_Mutation_p.Q31*	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	31						extracellular region	lipid binding										TGGCCTGGCCCAAGCCCACAG	0.622000														27			9		0	0	0.006214	0	0
SLIT2	9353	broad.mit.edu	37	4	20525485	20525485	+	Silent	SNP	C	T	T	rs145340436		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:20525485C>T	uc003gpr.1	+	12	1437	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	SLIT2_uc003gps.1_Silent_p.I411I	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	411					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCAGACCATCGCCAAGGGGA	0.418000														50			25		0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179582050	179582050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179582050C>T	uc021vsy.1	-	84	21904	c.21679G>A	c.(21679-21681)Gaa>Aaa	p.E7227K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3888K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8154	Ig-like 54.						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)			GTACCACTTTCTCCAAGAGCA	0.408000														33			15		0	0	0.002450	0	0
DDX43	55510	broad.mit.edu	37	6	74110016	74110016	+	Silent	SNP	G	A	A	rs140241372		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:74110016G>A	uc003pgw.3	+	2	710	c.366G>A	c.(364-366)acG>acA	p.T122T	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	122	KH.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CAATGCAAACGAAAGCAAAAG	0.353000														44			18		0	0	0.004990	0	0
PSG5	5673	broad.mit.edu	37	19	43689174	43689174	+	Missense_Mutation	SNP	C	T	T	rs146386413		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:43689174C>T	uc002ovu.3	-	1	321	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G64S	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	64	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CAGATGTAGCCAGCAAGATTC	0.448000														132			43		0	0	0.008740	0	0
OR4A5	81318	broad.mit.edu	37	11	51411976	51411976	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:51411976G>A	uc001nhi.2	-	0	473	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCAACAGAAGGAAGCAAACCT	0.473000														21			13		0	0	0.001855	0	0
LPA	4018	broad.mit.edu	37	6	161006198	161006198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:161006198C>T	uc003qtl.3	-	26	4289	c.4169G>A	c.(4168-4170)cGa>cAa	p.R1390Q		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3898	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCCATCACCTCGGTAGCAGTC	0.453000														96			39		0	0	0.008740	0	0
PPFIA2	8499	broad.mit.edu	37	12	81777804	81777804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:81777804C>T	uc001szo.2	-	8	1143	c.982G>A	c.(982-984)Gag>Aag	p.E328K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E254K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E229K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E328K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E328K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E310K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E328K|PPFIA2_uc010sue.2_Missense_Mutation_p.E228K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	254										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCACTTACCTCCCTAATGTCC	0.408000														19			3		0	0	0.004672	0	0
HKR1	284459	broad.mit.edu	37	19	37853799	37853799	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:37853799C>T	uc002ogb.3	+	5	1371	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	HKR1_uc002ofx.3_Silent_p.L84L|HKR1_uc002ofy.3_Silent_p.L84L|HKR1_uc002oga.3_Silent_p.L350L|HKR1_uc010xto.2_Silent_p.L350L|HKR1_uc002ogc.3_Silent_p.L349L|HKR1_uc010xtp.2_Silent_p.L307L|HKR1_uc002ogd.3_Silent_p.L307L	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	368					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGCTTTAGCCTGAAGTCAAA	0.532000														41			15		0	0	0.002450	0	0
OSMR	9180	broad.mit.edu	37	5	38924670	38924671	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:38924670_38924671CC>AT	uc003jln.2	+	13	2419_2420	c.2017_2018CC>AT	c.(2017-2019)cca>ATa	p.P673I	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	673	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCAGTGCCACCCACGATTTGAA	0.361000														51			11		0	0	0.004672	0	0
DPP4	1803	broad.mit.edu	37	2	162875264	162875264	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:162875264C>T	uc002ubz.3	-	15	1956	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	DPP4_uc010fpb.3_Silent_p.A141A	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	465					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.A465A(4)|p.A465V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GATAATACTTCGCCTCTTTAC	0.473000														49			15		0	0	0.003163	0	0
COL4A3	1285	broad.mit.edu	37	2	228137770	228137771	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:228137770_228137771GG>AA	uc002vom.2	+	25	2026_2027	c.1864_1865GG>AA	c.(1864-1866)gga>AAa	p.G622K	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	622	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G622E(3)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CGGACCCCAAGGAGAACCTGGT	0.624000														35			11		0	0	0.004672	0	0
DMXL2	23312	broad.mit.edu	37	15	51857296	51857296	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:51857296C>T	uc010ufy.2	-	3	578	c.353G>A	c.(352-354)tGg>tAg	p.W118*	DMXL2_uc002abf.3_Nonsense_Mutation_p.W118*|DMXL2_uc010bfa.3_Nonsense_Mutation_p.W118*	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	118						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTGAGGATCCCATGCTAAGTT	0.284000														4			3		0	0	0.004672	0	0
PCSK5	5125	broad.mit.edu	37	9	78784740	78784740	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:78784740G>A	uc004akc.2	+	12	2278	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	PCSK5_uc004ajy.2_Silent_p.R580R|PCSK5_uc004ajz.3_Silent_p.R580R|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	580	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCAGCTAAGGAACTTTAAGA	0.423000														38			19		0	0	0.010504	0	0
ITGB8	3696	broad.mit.edu	37	7	20431099	20431099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:20431099G>A	uc003suu.3	+	6	1739	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	ITGB8_uc011jyh.2_Missense_Mutation_p.G210E|ITGB8_uc003sut.3_Missense_Mutation_p.G345E	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	345	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCAGTTCAAGGAAAACAATTT	0.284000														20			8		0	0	0.004482	0	0
PASD1	139135	broad.mit.edu	37	X	150832599	150832599	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:150832599T>C	uc004fev.4	+	10	1182	c.850T>C	c.(850-852)Ttg>Ctg	p.L284L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	284						nucleus	signal transducer activity	p.S283F(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCTTATCCTTGCAAGACTT	0.478000														20			15		0	0	0.004007	0	0
BLVRA	644	broad.mit.edu	37	7	43832342	43832342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:43832342C>T	uc010kxv.3	+	5	460	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F	BLVRA_uc003tir.3_Missense_Mutation_p.L95F	NM_001253823	NP_001240752	P53004	BIEA_HUMAN	Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA.	95					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	CAAGCACGTCCTTGTGGAATA	0.468000														24			8		0	0	0.006214	0	0
MYLK2	85366	broad.mit.edu	37	20	30407947	30407947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:30407947C>T	uc002wwq.2	+	2	173	c.71C>T	c.(70-72)cCc>cTc	p.P24L		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	24					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCTAAAGGTCCCACAGGTGAA	0.602000														31			15		0	0	0.004007	0	0
DEFB118	117285	broad.mit.edu	37	20	29960723	29960723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:29960723G>A	uc002wvr.3	+	1	155	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	41					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCAAAGATGGAGAAGCAGTG	0.433000														22			15		0	0	0.004990	0	0
UNC5C	8633	broad.mit.edu	37	4	96256715	96256715	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:96256715G>A	uc003hto.3	-	1	545	c.192C>T	c.(190-192)ttC>ttT	p.F64F	UNC5C_uc010ilc.2_Silent_p.F64F|UNC5C_uc003htq.3_Silent_p.F64F	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	64	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTCAATAAGGAAATGTGGCA	0.413000														19			8		0	0	0.003080	0	0
CSDC2	27254	broad.mit.edu	37	22	41968137	41968137	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:41968137C>T	uc003bak.1	+	1	465	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN	Homo sapiens cold shock domain containing C2, RNA binding (CSDC2), mRNA.	56					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding			prostate(2)|upper_aerodigestive_tract(1)	3						GGACCAGGACCTATTCAGCGT	0.652000														8			4		0	0	0.001168	0	0
SLC4A9	83697	broad.mit.edu	37	5	139740441	139740441	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:139740441G>A	uc003lfm.2	+	1	382	c.347G>A	c.(346-348)tGg>tAg	p.W116*	SLC4A9_uc003lfj.2_Nonsense_Mutation_p.W92*|SLC4A9_uc011czg.1_Nonsense_Mutation_p.W92*|SLC4A9_uc003lfl.2_Nonsense_Mutation_p.W92*|SLC4A9_uc003lfk.2_Nonsense_Mutation_p.W92*	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	116						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.R115R(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCCGGTGGAGTGCCCCC	0.622000														18			13		0	0	0.004007	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855633	12855633	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12855633C>T	uc001auj.2	+	3	1016	c.913C>T	c.(913-915)Cta>Tta	p.L305L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	305										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGGCTACCTATTGGAAGA	0.473000														61			26		0	0	0.003755	0	0
PTPRT	11122	broad.mit.edu	37	20	40733211	40733211	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:40733211G>A	uc002xkg.3	-	24	3722	c.3538C>T	c.(3538-3540)Cag>Tag	p.Q1180*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.Q1199*|PTPRT_uc010ggi.3_Nonsense_Mutation_p.Q383*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1180	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S1180F(1)|p.Q1202K(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCATACCTGAAATTCATCT	0.443000														42			19		0	0	0.008871	0	0
VPS13B	157680	broad.mit.edu	37	8	100523548	100523548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:100523548C>T	uc003yiv.3	+	28	4627	c.4516C>T	c.(4516-4518)Cct>Tct	p.P1506S	VPS13B_uc003yiw.3_Missense_Mutation_p.P1481S|VPS13B_uc003yix.1_Missense_Mutation_p.P976S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1506					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTTTATTTTCCTTTACTTAA	0.353000														22			7		0	0	0.001984	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858604	9858605	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:9858604_9858605CC>TT	uc010uym.2	-	13	3106_3107	c.2796_2797GG>AA	c.(2794-2799)atggac>atAAac	p.932_933MD>IN	GRIN2A_uc002czo.4_Missense_Mutation_p.932_933MD>IN|GRIN2A_uc010uyn.2_Missense_Mutation_p.775_776MD>IN|GRIN2A_uc002czr.4_Missense_Mutation_p.932_933MD>IN	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	932					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAACCATGTCCATGATGAGGG	0.441000														69			36		0	0	0.004672	0	0
EXOSC5	56915	broad.mit.edu	37	19	41903149	41903149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:41903149G>A	uc002oqo.3	-	0	108	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	BCKDHA_uc002oqm.4_Intron|BCKDHA_uc002oqp.2_5'Flank|BCKDHA_uc002oqr.3_5'Flank|BCKDHA_uc002oqq.3_5'Flank|BCKDHA_uc010xvz.2_5'Flank	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	Homo sapiens exosome component 5 (EXOSC5), mRNA.	29					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GCAAAGTGCCGGAGGCTGCAG	0.592000														64			33		0	0	0.002445	0	0
APOA1	335	broad.mit.edu	37	11	116707761	116707761	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:116707761G>A	uc001ppv.1	-	2	194	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_000039	NP_000030	P02647	APOA1_HUMAN	Homo sapiens apolipoprotein A-I (APOA1), mRNA.	52					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGGACACATAGTCTCTGCCGC	0.592000														237			107		0	0	0.003610	0	0
LAMB1	3912	broad.mit.edu	37	7	107564460	107564460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:107564460C>T	uc003vev.2	-	31	5530	c.5369G>A	c.(5368-5370)gGa>gAa	p.G1790E	LAMB1_uc003vew.2_Missense_Mutation_p.G1766E	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1766					axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGACTTCTCCTTCCAGTCT	0.358000														30			6		0	0	0.001168	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481765	140481765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140481765G>A	uc003lio.3	+	0	1532	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	511	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGACAACGGCCACCTGTTT	0.667000														56			25		0	0	0.005443	0	0
PSG5	5673	broad.mit.edu	37	19	43689225	43689225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:43689225C>T	uc002ovu.3	-	1	270	c.139G>A	c.(139-141)Gag>Aag	p.E47K	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E47K	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	47	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCTTCCCCTCGGAAACTTTG	0.468000														86			46		0	0	0.003610	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965601	35965601	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:35965601C>A	uc003jjv.2	-	3	923	c.730G>T	c.(730-732)Gca>Tca	p.A244S	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.A244S|UGT3A1_uc011cor.2_Missense_Mutation_p.A210S|UGT3A1_uc003jjy.2_Missense_Mutation_p.A190S	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	244						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACAACTCTGCTTTCAGTAGA	0.448000														30			11		3.07112e-06	3.12688e-06	0.000978	1	0
ABCB5	340273	broad.mit.edu	37	7	20778753	20778753	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:20778753G>A	uc010kuh.3	+	23	3252	c.3015G>A	c.(3013-3015)ggG>ggA	p.G1005G	ABCB5_uc003suw.4_Silent_p.G560G	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	560					regulation of membrane potential	Golgi membrane|apical plasma 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						GTCAAGAAGGGAAAAAGCCAG	0.478000														6			5		0	0	0.000602	0	0
KCNH2	3757	broad.mit.edu	37	7	150645555	150645555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:150645555G>A	uc003wic.3	-	10	3070	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F	KCNH2_uc003wib.3_Missense_Mutation_p.S550F|KCNH2_uc011kux.2_Missense_Mutation_p.S794F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	890					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCTGCGGAAGGACAACTTGCG	0.652000														36			5		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179398780	179398780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179398780C>T	uc021vsy.1	-	306	95083	c.94858G>A	c.(94858-94860)Gaa>Aaa	p.E31620K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25315K|TTN_uc021vta.1_Missense_Mutation_p.E25248K|TTN_uc021vtb.1_Missense_Mutation_p.E25123K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32547							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)			ACTCCATCTTCGTAGGTGATT	0.398000														27			18		0	0	0.004990	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283589	40283589	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:40283589T>A	uc003ayg.3	-	1	415	c.164A>T	c.(163-165)aAt>aTt	p.N55I		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	55	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCACAGCATATTCATAATCTC	0.423000														52			21		0	0	0.002780	0	0
ZNF560	147741	broad.mit.edu	37	19	9578870	9578870	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9578870G>A	uc002mlp.1	-	9	963	c.753C>T	c.(751-753)ctC>ctT	p.L251L	ZNF560_uc010dwr.1_Silent_p.L145L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATAGAGAAAGGAGGTCTTTTG	0.373000														36			9		0	0	0.000978	0	0
COL4A5	1287	broad.mit.edu	37	X	107834830	107834830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:107834830G>A	uc022ccg.1	+	20	1581	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	COL4A5_uc004enz.1_Missense_Mutation_p.G460E|COL4A5_uc004eob.1_Missense_Mutation_p.G68E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	460	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCCCCAGGATCTCCAGGT	0.398000									Alport syndrome with Diffuse Leiomyomatosis					15			31		0	0	0.004289	0	0
NLRP7	199713	broad.mit.edu	37	19	55449500	55449500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:55449500C>T	uc002qih.4	-	4	2117	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	NLRP7_uc010esk.3_Missense_Mutation_p.E681K|NLRP7_uc002qig.4_Missense_Mutation_p.E653K|NLRP7_uc002qii.4_Missense_Mutation_p.E681K|NLRP7_uc010esl.3_Missense_Mutation_p.E709K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	681							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTTTCACTTCCAGAAACTTG	0.498000														90			39		0	0	0.006999	0	0
KPNA3	3839	broad.mit.edu	37	13	50306751	50306751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:50306751G>A	uc001vdj.2	-	4	692	c.277C>T	c.(277-279)Cag>Tag	p.Q93*		NM_002267	NP_002258	O00505	IMA3_HUMAN	Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA.	93					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTTGCTGCCTGGACAGCACTC	0.328000														56			28		0	0	0.002836	0	0
FGA	2243	broad.mit.edu	37	4	155508061	155508061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:155508061C>T	uc003iod.1	-	4	578	c.520G>A	c.(520-522)Gat>Aat	p.D174N	FGA_uc003ioe.1_Missense_Mutation_p.D174N|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	174					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATCTTAATATCAATGTCCACC	0.398000														33			11		0	0	0.001368	0	0
NWD1	284434	broad.mit.edu	37	19	16902315	16902315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16902315G>A	uc002neu.4	+	13	3517	c.3095G>A	c.(3094-3096)gGa>gAa	p.G1032E	NWD1_uc002net.4_Missense_Mutation_p.G897E|NWD1_uc002nev.4_Missense_Mutation_p.G826E|NWD1_uc021uqg.1_Missense_Mutation_p.G897E	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1032							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAGCTACGGGAAAACTTCAG	0.547000														25			12		0	0	0.000978	0	0
CCDC54	84692	broad.mit.edu	37	3	107096458	107096458	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:107096458G>A	uc003dwi.1	+	0	271	c.24G>A	c.(22-24)agG>agA	p.R8R		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	8										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ACACCAAAAGGGTAAAAGCTG	0.398000														43			20		0	0	0.008871	0	0
CAV3	859	broad.mit.edu	37	3	8787421	8787421	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:8787421G>A	uc003bra.3	+	1	401	c.324G>A	c.(322-324)aaG>aaA	p.K108K	C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Silent_p.K108K	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	108	Required for interaction with DAG1.				T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization	Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CATGCATTAAGAGCTACCTGA	0.607000														22			10		0	0	0.006214	0	0
CROCC	9696	broad.mit.edu	37	1	17272816	17272816	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:17272816C>T	uc001azt.2	+	15	2268	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	CROCC_uc009voz.1_Silent_p.S496S|CROCC_uc001azu.2_Silent_p.S36S	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	733					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGAGGCCTCCCTGCAGGACT	0.627000														44			14		0	0	0.002450	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711032	58711032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:58711032G>A	uc001nnh.2	+	1	91	c.41G>A	c.(40-42)gGa>gAa	p.G14E	GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	tcacaagaaggatctgaagtg	0.438000														11			7		0	0	0.001984	0	0
STAU2	27067	broad.mit.edu	37	8	74495023	74495023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:74495023G>A	uc003xzm.3	-	11	1545	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	STAU2_uc011lfh.2_Missense_Mutation_p.P298S|STAU2_uc003xzn.3_Missense_Mutation_p.P370S|STAU2_uc011lfg.2_Missense_Mutation_p.P230S|STAU2_uc003xzo.3_Missense_Mutation_p.P402S|STAU2_uc003xzq.3_Missense_Mutation_p.P182S|STAU2_uc003xzp.3_Missense_Mutation_p.P370S|STAU2_uc011lfi.2_Missense_Mutation_p.P364S|STAU2_uc010lzk.3_Missense_Mutation_p.P370S|STAU2_uc010lzl.1_Missense_Mutation_p.P230S	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	402	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GTTGGTTCAGGAAACCCAGGC	0.398000														31			13		0	0	0.003163	0	0
SHANK1	50944	broad.mit.edu	37	19	51205794	51205794	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:51205794G>A	uc002psx.1	-	10	1696	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	559	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCACAGCCATGAAGGAGCGTC	0.701000														18			8		0	0	0.006214	0	0
ANXA9	8416	broad.mit.edu	37	1	150960762	150960762	+	Missense_Mutation	SNP	C	T	T	rs150067239	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:150960762C>T	uc001ewa.2	+	11	1267	c.797C>T	c.(796-798)tCg>tTg	p.S266L		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	266					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCCAGCTTCGGTGATCAAG	0.517000														53			16		0	0	0.010504	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115534	15115534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:15115534G>A	uc003bzm.1	-	13	2724	c.2110C>T	c.(2110-2112)Cct>Tct	p.P704S	ZFYVE20_uc010hek.1_Missense_Mutation_p.P704S	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	704	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGAACCAGAGGGCTTGAGAGC	0.562000														65			34		0	0	0.003755	0	0
PIPOX	51268	broad.mit.edu	37	17	27383203	27383203	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:27383203C>T	uc002hdr.1	+	7	1379	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	351					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GGCACGGGTTCAAGCTGGCCC	0.522000														42			15		0	0	0.004007	0	0
ODZ1	10178	broad.mit.edu	37	X	123663718	123663718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:123663718C>T	uc010nqy.3	-	15	2831	c.2767G>A	c.(2767-2769)Gga>Aga	p.G923R	ODZ1_uc011muj.2_Missense_Mutation_p.G922R|ODZ1_uc004euj.3_Missense_Mutation_p.G923R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	923					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ACATACCTTCCATCTTGCCGG	0.483000														20			26		0	0	0.009535	0	0
SACS	26278	broad.mit.edu	37	13	23904967	23904967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:23904967C>T	uc001uon.2	-	9	13637	c.13048G>A	c.(13048-13050)Gaa>Aaa	p.E4350K	SACS_uc001uoo.2_Missense_Mutation_p.E4203K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4350	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTAAAAACTTCATTGGCAATG	0.383000														36			23		0	0	0.002299	0	0
IQCF3	401067	broad.mit.edu	37	3	51864793	51864793	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:51864793C>T	uc021wyy.1	+	6	1229	c.441C>T	c.(439-441)ttC>ttT	p.F147F	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Silent_p.F147F	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	147										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCCAGAGTTCCACATTGAAA	0.488000														22			11		0	0	0.008291	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64569190	64569190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:64569190G>A	uc003jtp.3	-	11	2411	c.1597C>T	c.(1597-1599)Caa>Taa	p.Q533*	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.Q154*	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	533	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTCCCAGTTTGACACAGTGTC	0.433000														101			41		0	0	0.003610	0	0
TBC1D29	26083	broad.mit.edu	37	17	28890221	28890221	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:28890221C>T	uc002hfh.3	+	4	922	c.231C>T	c.(229-231)gcC>gcT	p.A77A	TBC1D29_uc002hfi.3_Non-coding_Transcript	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	Homo sapiens TBC1 domain family, member 29 (TBC1D29), mRNA.	77						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CTCACAGGGCCCTCAAGGGCA	0.632000														7			3		0	0	0.004672	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382377	41382377	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41382377G>A	uc003jmm.1	-	1	465	c.363C>T	c.(361-363)gtC>gtT	p.V121V		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	121	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGCCTTCATTGACTTTGGCAC	0.433000														42			19		0	0	0.008871	0	0
GGT7	2686	broad.mit.edu	37	20	33450629	33450629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:33450629G>A	uc002xay.3	-	2	588	c.545C>T	c.(544-546)tCt>tTt	p.S182F	GGT7_uc002xaz.1_Missense_Mutation_p.S199F|GGT7_uc002xba.1_Missense_Mutation_p.S182F	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	182					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCCAGGCCAGAACTGTGTGG	0.592000														39			22		0	0	0.002299	0	0
DNAH2	146754	broad.mit.edu	37	17	7664188	7664188	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:7664188C>T	uc002giu.1	+	16	2930	c.2916C>T	c.(2914-2916)tcC>tcT	p.S972S		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	972	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACAAGGACTCCTTCATTCATC	0.532000														38			23		0	0	0.003954	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283477	33283477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:33283477G>A	uc003oeb.3	-	1	1369	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.S406F|ZBTB22_uc021ywm.1_Missense_Mutation_p.S406F	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGGGGCATAGGAAGAGGGAGT	0.592000														141			35		0	0	0.003755	0	0
SLC27A1	376497	broad.mit.edu	37	19	17598335	17598335	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:17598335G>T	uc002ngu.1	+	3	841	c.791G>T	c.(790-792)aGc>aTc	p.S264I	SLC27A1_uc002ngt.1_5'UTR|SLC27A1_uc010xpp.1_Missense_Mutation_p.S85I	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	264	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTCGTGCACAGCAGGTGAGGG	0.612000														12			5		3.59834e-05	3.6563e-05	0.001168	1	0
AKAP8L	26993	broad.mit.edu	37	19	15511150	15511150	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:15511150C>G	uc002naw.1	-	7	1103	c.1004G>C	c.(1003-1005)gGa>gCa	p.G335A	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Missense_Mutation_p.G274A|AKAP8L_uc002nay.1_Missense_Mutation_p.G335A	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	335						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						ATCCTCTTTTCCCTCCTCATC	0.458000														41			12		0	0	0.003163	0	0
DNAH8	1769	broad.mit.edu	37	6	38862567	38862567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:38862567G>A	uc021yzh.1	+	58	8783	c.8674G>A	c.(8674-8676)Gct>Act	p.A2892T	DNAH8_uc003ooe.2_Missense_Mutation_p.A2675T	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACCATAAAAGCTGAGGAGTG	0.438000														16			9		0	0	0.006214	0	0
ANGPT4	51378	broad.mit.edu	37	20	854937	854937	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:854937C>T	uc002wei.3	-	7	1444	c.1341G>A	c.(1339-1341)gtG>gtA	p.V447V	ANGPT4_uc010zpn.2_Intron	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	447	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTCCAGACATCACTTGGGCAC	0.617000														40			22		0	0	0.002780	0	0
PBRM1	55193	broad.mit.edu	37	3	52643747	52643747	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:52643747T>A	uc003des.2	-	15	2161	c.2149A>T	c.(2149-2151)Aag>Tag	p.K717*	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.K717*|PBRM1_uc003der.2_Nonsense_Mutation_p.K685*|PBRM1_uc003det.2_Nonsense_Mutation_p.K732*|PBRM1_uc003deu.2_Nonsense_Mutation_p.K732*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.K717*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.K717*|PBRM1_uc003dey.2_Nonsense_Mutation_p.K717*|PBRM1_uc003dez.1_Nonsense_Mutation_p.K717*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.K630*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.K63*|PBRM1_uc003dfc.3_Nonsense_Mutation_p.K84*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	717	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTGGTACTTGTTGGCCATC	0.398000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									46			22		0	0	0.001882	0	0
NRXN2	9379	broad.mit.edu	37	11	64453402	64453402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:64453402C>T	uc021qkw.1	-	5	1330	c.868G>A	c.(868-870)Gcg>Acg	p.A290T	NRXN2_uc021qkx.1_Missense_Mutation_p.A266T|NRXN2_uc001oas.3_Missense_Mutation_p.A266T|NRXN2_uc001oaq.3_5'UTR	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	290	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTGAAGGTCGCCACAAACTCC	0.582000														24			10		0	0	0.008291	0	0
OR1L8	138881	broad.mit.edu	37	9	125330619	125330619	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:125330619G>A	uc004bmp.1	-	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGCCAGGATGATGAGCAGGT	0.483000														44			24		0	0	0.003954	0	0
FNBP4	23360	broad.mit.edu	37	11	47744803	47744803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:47744803G>A	uc009ylv.3	-	14	2683	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F	FNBP4_uc001ngj.3_Missense_Mutation_p.L751F	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	844										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCTGCTGGAAGGCTAACTGGT	0.458000														56			29		0	0	0.004289	0	0
SKAP1	8631	broad.mit.edu	37	17	46423357	46423357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:46423357C>T	uc002ini.1	-	3	302	c.190G>A	c.(190-192)Gga>Aga	p.G64R	SKAP1_uc002inj.1_Missense_Mutation_p.G64R|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.G64R	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	64					T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTGTCCTGTCCAATGTCTCCC	0.428000														17			9		0	0	0.008291	0	0
DNAH8	1769	broad.mit.edu	37	6	38998124	38998124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:38998124C>T	uc021yzh.1	+	92	14189	c.14080C>T	c.(14080-14082)Cac>Tac	p.H4694Y	DNAH8_uc003ooe.2_Missense_Mutation_p.H4477Y	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCCCCGGATCACTGGATCCT	0.478000														59			23		0	0	0.002299	0	0
CALN1	83698	broad.mit.edu	37	7	71571220	71571220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:71571220C>T	uc003twb.4	-	3	695	c.304G>A	c.(304-306)Gag>Aag	p.E102K	CALN1_uc003twa.4_Missense_Mutation_p.E60K|CALN1_uc003twc.4_Missense_Mutation_p.E60K	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	60	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATGCCCAGCTCCTGCTTGGAG	0.562000														27			8		0	0	0.004482	0	0
TTPA	7274	broad.mit.edu	37	8	63978529	63978529	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:63978529A>G	uc003xux.2	-	2	518	c.486T>C	c.(484-486)ggT>ggC	p.G162G		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	162	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AAAACTGCCAACCTTCCAGAT	0.398000														16			6		0	0	0.001984	0	0
COL5A3	50509	broad.mit.edu	37	19	10089653	10089653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:10089653C>T	uc002mmq.1	-	39	2964	c.2878G>A	c.(2878-2880)Gaa>Aaa	p.E960K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	960	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGTCCCAGTTCCCCCTACAGG	0.622000														11			3		0	0	0.004672	0	0
MEFV	4210	broad.mit.edu	37	16	3293258	3293258	+	Silent	SNP	G	A	A	rs104895152		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:3293258G>A	uc002cun.1	-	9	2269	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Silent_p.F323F|MEFV_uc021tby.1_Silent_p.F246F|MEFV_uc021tbz.1_Silent_p.F162F|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	743	B30.2/SPRY.		F -> L (in arFMF).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	AGCAGCTGGCGAATGTATAGA	0.517000														61			20		0	0	0.010504	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175466	207175466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:207175466G>A	uc002vbp.2	+	4	6464	c.6214G>A	c.(6214-6216)Gag>Aag	p.E2072K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2072							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATAGTACCAGAGTTTGAGAG	0.378000														15			11		0	0	0.000978	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677598	37677598	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:37677598G>A	uc002ofq.3	-	4	1093	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	ZNF585B_uc002ofr.1_Nonsense_Mutation_p.Q95*	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGTTTTCTGGATGAAGGCC	0.413000														100			32		0	0	0.003755	0	0
THSD7B	80731	broad.mit.edu	37	2	138414698	138414698	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:138414698G>A	uc002tva.1	+	22	4253	c.4253G>A	c.(4252-4254)tGg>tAg	p.W1418*	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGAACTGTATGGTGCCAGCGT	0.413000														41			14		0	0	0.004007	0	0
APOB	338	broad.mit.edu	37	2	21231675	21231675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:21231675G>A	uc002red.3	-	25	8193	c.8065C>T	c.(8065-8067)Cca>Tca	p.P2689S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2689					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATATATCTGGAACGGGCCAC	0.438000														312			147		0	0	0.003610	0	0
FRK	2444	broad.mit.edu	37	6	116263665	116263665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:116263665C>T	uc003pwi.1	-	7	1877	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	477	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AAATGTAGGTCGTTCCTTAGG	0.408000														60			14		0	0	0.003163	0	0
TNFSF8	944	broad.mit.edu	37	9	117680408	117680408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:117680408G>A	uc004bji.2	-	1	498	c.206C>T	c.(205-207)cCc>cTc	p.P69L	TNFSF8_uc022bmi.1_Missense_Mutation_p.P69L	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	69					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						AGGTGAGTTGGGAATGGAGTC	0.373000														12			3		0	0	0.000602	0	0
PVRL2	5819	broad.mit.edu	37	19	45368885	45368885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:45368885C>T	uc002ozw.1	+	1	836	c.446C>T	c.(445-447)tCc>tTc	p.S149F	PVRL2_uc002ozv.3_Missense_Mutation_p.S149F	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	149	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCCAAGGGGTCCGTCCGAGGG	0.662000														38			29		0	0	0.009535	0	0
SALL1	6299	broad.mit.edu	37	16	51175809	51175809	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:51175809C>T	uc021tif.1	-	1	355	c.33G>A	c.(31-33)gtG>gtA	p.V11V	SALL1_uc021tid.1_Silent_p.V11V|SALL1_uc021tie.1_Silent_p.V108V|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	108					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGCTGCAGTCCACTTGATCTG	0.532000														65			29		0	0	0.002445	0	0
FSTL4	23105	broad.mit.edu	37	5	132535325	132535325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:132535325C>T	uc003kyn.1	-	15	2209	c.1991G>A	c.(1990-1992)aGc>aAc	p.S664N	FSTL4_uc003kym.1_Missense_Mutation_p.S313N	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	664						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAGGCGGGGCTGTCCTGTCG	0.637000														29			12		0	0	0.000978	0	0
PDLIM5	10611	broad.mit.edu	37	4	95506861	95506861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:95506861C>T	uc003hti.3	+	5	1007	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F	PDLIM5_uc003htf.3_Missense_Mutation_p.L163F|PDLIM5_uc003htg.3_Missense_Mutation_p.L183F|PDLIM5_uc011cdx.1_Missense_Mutation_p.L183F|PDLIM5_uc003htj.3_5'UTR|PDLIM5_uc003htk.3_Missense_Mutation_p.L183F|PDLIM5_uc011cdy.2_Missense_Mutation_p.L164F|PDLIM5_uc003hth.3_Missense_Mutation_p.L177F|PDLIM5_uc003htl.3_5'UTR	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	286					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TTTCCGAATCCTTGCCCAGAT	0.468000														33			8		0	0	0.006214	0	0
MCAM	4162	broad.mit.edu	37	11	119182038	119182038	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:119182038C>A	uc001pwf.3	-	11	1530	c.1501G>T	c.(1501-1503)Gcc>Tcc	p.A501S	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	501	Ig-like C2-type 3.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCGTTGGAGGCCGTGCATTCA	0.617000														23			8		1.12685e-05	1.14577e-05	0.004482	1	0
MME	4311	broad.mit.edu	37	3	154886527	154886527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:154886527G>A	uc010hvr.1	+	19	2132	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	MME_uc003fab.1_Missense_Mutation_p.G641R|MME_uc003fac.1_Missense_Mutation_p.G641R|MME_uc003fad.1_Missense_Mutation_p.G641R|MME_uc003fae.1_Missense_Mutation_p.G641R	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	641					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACAGCTTAATGGAATTAATAC	0.299000														25			11		0	0	0.002450	0	0
MYH4	4622	broad.mit.edu	37	17	10362577	10362577	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:10362577G>A	uc002gmn.3	-	14	1689	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	526	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTCTCGATGAGCTCGATGC	0.478000														55			22		0	0	0.003954	0	0
KCNK10	54207	broad.mit.edu	37	14	88693803	88693803	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:88693803G>A	uc001xwm.3	-	3	719	c.597C>T	c.(595-597)ctC>ctT	p.L199L	KCNK10_uc001xwn.3_Silent_p.L199L|KCNK10_uc001xwo.3_Silent_p.L194L	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	194					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.L199L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGAAACCAAAGAGTGGAATTC	0.413000														55			24		0	0	0.002780	0	0
INPP5D	3635	broad.mit.edu	37	2	234106748	234106748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:234106748C>T	uc010zmo.2	+	23	2767	c.2614C>T	c.(2614-2616)Ccg>Tcg	p.P872S	INPP5D_uc010zmp.2_Missense_Mutation_p.P871S	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	901					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAGGGCCCCTCCGTGCAGTGG	0.597000														13			4		0	0	0.009096	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:22369378C>T	uc010tzu.2	+	0	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000														98			14		0	0	0.004007	0	0
ASTN2	23245	broad.mit.edu	37	9	119976662	119976662	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:119976662T>C	uc004bjt.2	-	2	1091	c.990A>G	c.(988-990)gaA>gaG	p.E330E	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	330						integral to membrane		p.G329V(1)|p.E330*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCACCTTCTCTTCCCCTGGAT	0.567000														57			25		0	0	0.003954	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288818	7288818	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:7288818C>T	uc001qss.3	+	4	1333	c.795C>T	c.(793-795)atC>atT	p.I265I	CLSTN3_uc001qsr.3_Silent_p.I253I	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	253					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACAAAAGGATCGAATATGCAC	0.552000														33			20		0	0	0.010504	0	0
MARS2	92935	broad.mit.edu	37	2	198570826	198570826	+	Missense_Mutation	SNP	A	G	G	rs150082953		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:198570826A>G	uc002uuq.3	+	0	799	c.697A>G	c.(697-699)Atc>Gtc	p.I233V	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	233					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCCTCAGGCGATCACCCCCGA	0.587000														32			12		0	0	0.001368	0	0
DGKG	1608	broad.mit.edu	37	3	186038225	186038225	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:186038225G>A	uc003fqa.3	-	1	561	c.24C>T	c.(22-24)tcC>tcT	p.S8S	DGKG_uc003fqb.3_Silent_p.S8S|DGKG_uc003fqc.3_Silent_p.S8S|DGKG_uc011brx.2_Silent_p.S8S	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	8					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTGGAGTGAGGGAGACCCACC	0.468000														35			14		0	0	0.003163	0	0
GPR158	57512	broad.mit.edu	37	10	25755615	25755615	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:25755615G>A	uc001isj.3	+	4	1431	c.1371G>A	c.(1369-1371)acG>acA	p.T457T		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	457						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTGGAAACGATCCTTTTTG	0.338000														24			12		0	0	0.001855	0	0
ILDR2	387597	broad.mit.edu	37	1	166904701	166904701	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:166904701C>T	uc001gdx.2	-	5	773	c.717G>A	c.(715-717)ggG>ggA	p.G239G		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	239						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TTGCTGCTTTCCCTGCTTCAT	0.582000														19			7		0	0	0.003080	0	0
THSD7B	80731	broad.mit.edu	37	2	137988647	137988647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:137988647C>T	uc002tva.1	+	6	1664	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P445L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCCCAGTTCCCCCTCCTCCT	0.473000														29			13		0	0	0.002450	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837285	40837285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:40837285C>T	uc002iay.3	+	4	778	c.562C>T	c.(562-564)Ccg>Tcg	p.P188S	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	188					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTACCGCTTCCCGCGAGGGGT	0.647000														61			10		0	0	0.008291	0	0
HDAC9	9734	broad.mit.edu	37	7	18975558	18975558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:18975558G>A	uc003sui.3	+	21	2971	c.2930G>A	c.(2929-2931)gGa>gAa	p.G977E	HDAC9_uc003sue.3_Missense_Mutation_p.G974E|HDAC9_uc003suh.3_Missense_Mutation_p.G974E|HDAC9_uc003suj.3_Missense_Mutation_p.G933E|HDAC9_uc003suk.3_Missense_Mutation_p.G222E	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	974	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCCCTTCTAGGAAATGAGGTA	0.408000														63			21		0	0	0.010504	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092827	147092827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:147092827G>A	uc003weu.2	+	9	2141	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	542	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P541P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGAAGCCGGGAAGTTTCGCG	0.438000										HNSCC(39;0.1)				47			17		0	0	0.007413	0	0
KCNH7	90134	broad.mit.edu	37	2	163302691	163302691	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:163302691A>T	uc002uch.2	-	6	1620	c.1391T>A	c.(1390-1392)aTa>aAa	p.I464K	KCNH7_uc002uci.3_Missense_Mutation_p.I457K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	464					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAATATCTATGATAAACAT	0.358000														17			6		0	0	0.001168	0	0
COL4A1	1282	broad.mit.edu	37	13	110827028	110827028	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:110827028G>A	uc001vqw.4	-	37	3389	c.3267C>T	c.(3265-3267)atC>atT	p.I1089I		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1089	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCATTCCTGGGATCCCAATGC	0.527000														99			47		0	0	0.003610	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058892	152058892	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152058892C>T	uc001ezo.1	-	2	1331	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	422							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTTCCCATCCTGTGTTTGGG	0.458000														45			27		0	0	0.004656	0	0
OR6B1	135946	broad.mit.edu	37	7	143701745	143701745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:143701745G>A	uc003wdt.1	+	0	656	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G219R(1)|p.G219*(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTGTCCTACGGATGCATTCTG	0.473000														74			33		0	0	0.002445	0	0
TULP1	7287	broad.mit.edu	37	6	35478719	35478719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:35478719G>A	uc003okv.4	-	4	430	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	TULP1_uc003okw.4_Missense_Mutation_p.L87F|TULP1_uc021yyx.1_Missense_Mutation_p.L140F|TULP1_uc021yyy.1_Missense_Mutation_p.L140F	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	140					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGAGGCAGAAGGATTTTctct	0.577000														47			40		0	0	0.005524	0	0
OR52E4	390081	broad.mit.edu	37	11	5906188	5906188	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:5906188C>T	uc010qzs.2	+	0	666	c.666C>T	c.(664-666)atC>atT	p.I222I	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGCTTATCCTTAGAGCTG	0.423000														56			23		0	0	0.001882	0	0
KCNK1	3775	broad.mit.edu	37	1	233807093	233807093	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:233807093C>T	uc010pxo.1	+	2	996	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	276						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGAAAAAATTCAGAAAAATGT	0.463000														23			14		0	0	0.002450	0	0
MTX1	4580	broad.mit.edu	37	1	155182223	155182223	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:155182223G>A	uc001fjb.3	+	4	925	c.819G>A	c.(817-819)cgG>cgA	p.R273R	MTX1_uc001fjc.3_Silent_p.R242R	NM_002455	NP_002446	Q13505	MTX1_HUMAN	Homo sapiens metaxin 1 (MTX1), transcript variant 1, mRNA.	273					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGTGACCCGGAAGTGGTATG	0.552000														53			9		0	0	0.000978	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899902	151899902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:151899902G>A	uc022chj.1	-	0	899	c.899C>T	c.(898-900)tCc>tTc	p.S300F	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.S300F|MAGEA12_uc022chi.1_Missense_Mutation_p.S300F|MAGEA12_uc004fgc.3_Missense_Mutation_p.S300F	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	300	MAGE.			S -> P (in Ref. 1; AAA19023).						breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGGGTAGGAAATGTGAGG	0.567000														35			39		0	0	0.007835	0	0
ATP8A1	10396	broad.mit.edu	37	4	42577650	42577650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:42577650C>T	uc003gwr.2	-	12	1427	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	ATP8A1_uc003gws.2_Missense_Mutation_p.E399K|ATP8A1_uc011byz.1_Missense_Mutation_p.E399K	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	399					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGCCAAGTTCCTCATTCAGA	0.358000														79			33		0	0	0.004289	0	0
DZIP1	22873	broad.mit.edu	37	13	96274644	96274644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:96274644G>A	uc001vmk.3	-	8	1915	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	DZIP1_uc001vml.3_Missense_Mutation_p.P355S	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	355					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGGGGATATGGAGAACGGTCT	0.423000														34			15		0	0	0.003163	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2603	2603	+	RNA	SNP	C	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrGL000237.1:2603C>G	uc011mgu.1	-	0		c.84G>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		gttacaggctccagcctccag	0.612000														0			2		0	0	0.004672	0	0
ATL1	51062	broad.mit.edu	37	14	51099023	51099023	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:51099023A>G	uc021rsw.1	+	13	1884	c.1643A>G	c.(1642-1644)gAa>gGa	p.E548G	ATL1_uc001wyd.4_Missense_Mutation_p.E543G|ATL1_uc001wyf.4_Missense_Mutation_p.E546G|ATL1_uc001wye.4_Missense_Mutation_p.E543G|ATL1_uc021rsx.1_Missense_Mutation_p.E548G	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	548	Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCAAAGTCGGAATCTACTGAA	0.338000														18			5		0	0	0.001984	0	0
SCN2A	6326	broad.mit.edu	37	2	166210824	166210824	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:166210824C>T	uc002udc.3	+	16	3332	c.3042C>T	c.(3040-3042)atC>atT	p.I1014I	SCN2A_uc002udd.3_Silent_p.I1014I|SCN2A_uc002ude.3_Silent_p.I1014I	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1014					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGAAAGGAATCGATTTTGTTA	0.348000														46			24		0	0	0.002780	0	0
PCDH18	54510	broad.mit.edu	37	4	138451129	138451129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:138451129G>A	uc003ihe.4	-	0	2501	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	PCDH18_uc003ihf.4_Missense_Mutation_p.S698F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.S485F|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	705					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S705F(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCTCCTAAGGAAATAATTAT	0.423000														56			19		0	0	0.006122	0	0
TIGD5	84948	broad.mit.edu	37	8	144680469	144680469	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:144680469C>T	uc003yyx.2	+	0	396	c.396C>T	c.(394-396)ttC>ttT	p.F132F	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	132					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACGCCTGGTTCCTGGCGCTGC	0.697000														12			4		0	0	0.000602	0	0
TTLL7	79739	broad.mit.edu	37	1	84385483	84385483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:84385483C>T	uc001djc.3	-	12	1795	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	467					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCATACTTTTCAAGTAATGCT	0.343000														47			13		0	0	0.004007	0	0
FAM83B	222584	broad.mit.edu	37	6	54805518	54805518	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:54805518C>T	uc003pck.3	+	4	1865	c.1749C>T	c.(1747-1749)acC>acT	p.T583T		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	583										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCCCAGACACCCCTACGAATG	0.468000														33			11		0	0	0.000978	0	0
SLC45A3	85414	broad.mit.edu	37	1	205589662	205589662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:205589662G>A	uc001hcy.2	-	2	1762	c.512C>T	c.(511-513)cCa>cTa	p.P171L	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.P171L	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TTTCTCGGCTGGATTCTCAGT	0.418000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									26			13		0	0	0.002450	0	0
USP16	10600	broad.mit.edu	37	21	30400247	30400247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:30400247C>T	uc002ymy.3	+	1	215	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	USP16_uc002ymx.3_Missense_Mutation_p.R5W|USP16_uc002ymw.3_Missense_Mutation_p.R5W|USP16_uc011acm.2_Intron|USP16_uc011acn.2_Intron	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	5					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GGGAAAGAAACGGACAAAGGG	0.299000														14			3		0	0	0.004672	0	0
FKBP15	23307	broad.mit.edu	37	9	115973809	115973809	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:115973809G>A	uc004bgs.2	-	1	270	c.117C>T	c.(115-117)ttC>ttT	p.F39F	FKBP15_uc010muu.1_Silent_p.F103F|FKBP15_uc011lxd.1_Intron|FKBP15_uc010mut.1_5'UTR|FKBP15_uc004bgt.2_Silent_p.F39F	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	39					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTGTGTACTGGAAAAATTCAT	0.453000														12			5		0	0	0.001168	0	0
DOCK6	57572	broad.mit.edu	37	19	11333778	11333778	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:11333778A>G	uc002mqs.4	-	24	3001	c.2960T>C	c.(2959-2961)gTg>gCg	p.V987A	DOCK6_uc010xlq.2_Missense_Mutation_p.V326A	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	987					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCCAGCTCCACATCCTGGGG	0.627000														25			9		0	0	0.006214	0	0
DNAJC28	54943	broad.mit.edu	37	21	34860722	34860722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:34860722G>A	uc021wim.1	-	0	979	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	DNAJC28_uc002yrv.3_Missense_Mutation_p.H327Y|DNAJC28_uc002yrw.3_Missense_Mutation_p.H327Y	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	327				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						GCATCAAAATGGACTTTTTGC	0.338000														39			11		0	0	0.000978	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457597	45457597	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:45457597C>T	uc001rol.3	-	0		c.1598G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CCTGTAACATCGTCACTGGTT	0.498000														13			3		0	0	0.009096	0	0
MLL2	8085	broad.mit.edu	37	12	49425089	49425089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:49425089G>A	uc001rta.4	-	38	13399	c.13399C>T	c.(13399-13401)Ctc>Ttc	p.L4467F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4467					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTTGCCCGGAGTAGCTTCTGC	0.627000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				35			18		0	0	0.008871	0	0
OR7G1	125962	broad.mit.edu	37	19	9225705	9225705	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9225705G>A	uc021uoi.1	-	0	735	c.735C>T	c.(733-735)ctC>ctT	p.L245L	OR7G1_uc002mks.1_Silent_p.L245L	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AAAAAACAGAGAGGTGACAGC	0.428000														13			7		0	0	0.001984	0	0
CASR	846	broad.mit.edu	37	3	121980978	121980978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:121980978G>A	uc003eew.4	+	3	1534	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	CASR_uc003eev.4_Missense_Mutation_p.G366R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	366					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGTGCAAAAGGACCTTTACC	0.498000														29			6		0	0	0.003080	0	0
EYA2	2139	broad.mit.edu	37	20	45771711	45771711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:45771711C>T	uc002xsm.3	+	9	1276	c.902C>T	c.(901-903)tCc>tTc	p.S301F	EYA2_uc010ghp.3_Missense_Mutation_p.S301F|EYA2_uc002xsq.3_Intron	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	301					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACCACGACGTCCGTGCGCATT	0.493000														24			16		0	0	0.004990	0	0
GML	2765	broad.mit.edu	37	8	143927901	143927901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:143927901G>A	uc003yxg.3	+	3	362	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	91	UPAR/Ly6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAAGCCCCAGGAAAAATCTTC	0.388000														19			12		0	0	0.000978	0	0
COL9A1	1297	broad.mit.edu	37	6	70963122	70963122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:70963122C>T	uc003pfg.4	-	25	1889	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E	COL9A1_uc003pfe.4_Missense_Mutation_p.G150E|COL9A1_uc003pff.4_Missense_Mutation_p.G334E	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	577	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCAGGAATTCCAGGTACACC	0.368000														35			12		0	0	0.002450	0	0
RHD	6007	broad.mit.edu	37	1	25599183	25599183	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:25599183C>A	uc009vro.3	+	0	203	c.145C>A	c.(145-147)Caa>Aaa	p.Q49K	C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Missense_Mutation_p.Q49K|RHD_uc001bjz.3_Missense_Mutation_p.Q49K|RHD_uc001bkc.3_Missense_Mutation_p.Q49K|RHD_uc009vrm.3_5'UTR|RHD_uc001bka.3_Missense_Mutation_p.Q49K|RHD_uc001bkb.3_Missense_Mutation_p.Q49K|RHD_uc009vrn.3_Missense_Mutation_p.Q49K|RHD_uc009vrp.3_Missense_Mutation_p.Q49K			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	49						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCATCCTATCAAGGTGAGAG	0.522000														33			41		2.69774e-35	2.76532e-35	0.003610	1	0
ASAP3	55616	broad.mit.edu	37	1	23769057	23769057	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:23769057G>A	uc001bha.2	-	5	646	c.522C>T	c.(520-522)atC>atT	p.I174I	ASAP3_uc010odz.1_Silent_p.I43I|ASAP3_uc010oea.1_Silent_p.I165I|ASAP3_uc001bhc.1_Silent_p.I174I	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	174					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCTCCCCAGGGATCCCTCCTG	0.627000														31			8		0	0	0.003080	0	0
DACT1	51339	broad.mit.edu	37	14	59112095	59112095	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:59112095C>A	uc001xdw.3	+	3	918	c.754C>A	c.(754-756)Ccc>Acc	p.P252T	DACT1_uc010trv.2_5'UTR|DACT1_uc001xdx.3_Missense_Mutation_p.P215T|DACT1_uc010trw.2_5'UTR	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	252					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGATGTGAATCCCAAGTACCA	0.478000														38			30		9.78485e-24	1.00232e-23	0.002836	1	0
AFAP1L2	84632	broad.mit.edu	37	10	116064521	116064521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:116064521G>A	uc001lbn.3	-	10	1542	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	AFAP1L2_uc001lbo.3_Missense_Mutation_p.S414F|AFAP1L2_uc010qse.2_Missense_Mutation_p.S467F|AFAP1L2_uc001lbp.3_Missense_Mutation_p.S442F|AFAP1L2_uc001lbr.1_Missense_Mutation_p.S414F|AFAP1L2_uc010qsd.2_5'UTR|AFAP1L2_uc001lbq.1_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	414	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity	p.Y413*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GATGCGGAAGGAGTAGAGGTG	0.682000														14			3		0	0	0.004672	0	0
ZHX1	11244	broad.mit.edu	37	8	124267362	124267362	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:124267362C>T	uc003yqe.3	-	2	1435	c.825G>A	c.(823-825)ttG>ttA	p.L275L	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Silent_p.L275L|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Silent_p.L275L|ZHX1_uc022bak.1_Silent_p.L275L	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	275	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTTGGGAATCAAATTAGAAT	0.438000														56			38		0	0	0.004878	0	0
GRID2	2895	broad.mit.edu	37	4	94690535	94690535	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:94690535C>T	uc011cdt.2	+	14	2793	c.2535C>T	c.(2533-2535)tcC>tcT	p.S845S	GRID2_uc011cdu.2_Silent_p.S750S	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	845					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.S845C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTGTCCTCTCCTGCTTCATAG	0.493000														36			14		0	0	0.003163	0	0
OR5H6	79295	broad.mit.edu	37	3	97983875	97983875	+	Silent	SNP	G	A	A	rs146320551		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:97983875G>A	uc003dsi.1	+	0	747	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G249G(2)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTATCAAAGGGATACGAAAAG	0.388000														25			5		0	0	0.001168	0	0
MYT1L	23040	broad.mit.edu	37	2	1926949	1926949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:1926949C>T	uc002qxe.3	-	9	1419	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MYT1L_uc002qxd.3_Missense_Mutation_p.D198N|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	198					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCAGTTCATCGTAATTGTCA	0.408000														10			11		0	0	0.000978	0	0
MRO	83876	broad.mit.edu	37	18	48326495	48326495	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:48326495G>A	uc010dpa.3	-	5	795	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	MRO_uc010xdn.2_Nonsense_Mutation_p.Q150*|MRO_uc002lew.4_Nonsense_Mutation_p.Q202*|MRO_uc010dpb.3_Nonsense_Mutation_p.Q164*|MRO_uc010dpc.3_Nonsense_Mutation_p.Q150*|MRO_uc002lex.4_Nonsense_Mutation_p.Q202*	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	202						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GAACAGGCTTGAAATGTTGTT	0.393000														33			17		0	0	0.004007	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377421	125377421	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:125377421C>T	uc011lyy.2	+	0	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ACACTATGATCCTGACTAGAA	0.473000														54			18		0	0	0.006122	0	0
ASCC3	10973	broad.mit.edu	37	6	101173462	101173462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:101173462C>T	uc003pqk.3	-	10	2184	c.1855G>A	c.(1855-1857)Gat>Aat	p.D619N	ASCC3_uc011eai.1_Missense_Mutation_p.D521N|ASCC3_uc003pql.3_Missense_Mutation_p.D619N	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	619	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGTCCTCTATCTTCATGCAGC	0.378000														46			8		0	0	0.004482	0	0
OR6C3	254786	broad.mit.edu	37	12	55725759	55725759	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:55725759A>G	uc010spj.2	+	0	275	c.275A>G	c.(274-276)aAc>aGc	p.N92S		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTCCTATAACAACTGTGCA	0.413000														40			11		0	0	0.008291	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184698	72184698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:72184698G>A	uc002fcc.4	-	4	617	c.445C>T	c.(445-447)Cac>Tac	p.H149Y	PMFBP1_uc002fcd.3_Missense_Mutation_p.H149Y|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.H4Y	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	149										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCTCGTTGTGATTTCCCATT	0.502000														230			19		0	0	0.003954	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428151	128428151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:128428151C>T	uc003ysf.3	+	0	295	c.40C>T	c.(40-42)Cct>Tct	p.P14S	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	14						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						CTTCTCGCCCCCTCCAGGCGG	0.632000														1			4		0	0	0.009096	0	0
TAAR6	319100	broad.mit.edu	37	6	132891845	132891845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:132891845G>A	uc011eck.2	+	0	385	c.385G>A	c.(385-387)Gac>Aac	p.D129N		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	129						plasma membrane	G-protein coupled receptor activity	p.I128I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CATCTCCATCGACAGGTACAT	0.483000														202			57		0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100847491	100847491	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:100847491T>C	uc003yiv.3	+	52	9867	c.9756T>C	c.(9754-9756)agT>agC	p.S3252S	VPS13B_uc003yiw.3_Silent_p.S3227S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3252					protein transport			p.P3251R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGACCCTAGTCCTCGAGTAA	0.343000														21			7		0	0	0.003080	0	0
LOC494141	494141	broad.mit.edu	37	11	18231632	18231632	+	RNA	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:18231632G>A	uc009yhh.3	+	1		c.656G>A			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		AGGGACAACGGAAGCAATTTT	0.458000														15			9		0	0	0.004482	0	0
GABRE	2564	broad.mit.edu	37	X	151138709	151138709	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:151138709G>A	uc004ffi.3	-	1	276	c.222C>T	c.(220-222)atC>atT	p.I74I	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	74					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGTTCAGGATGCGAGAGG	0.537000														22			33		0	0	0.003755	0	0
PRIC285	85441	broad.mit.edu	37	20	62192982	62192983	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:62192982_62192983GG>AA	uc002yfm.2	-	12	7699_7700	c.6807_6808CC>TT	c.(6805-6810)ccccgg>ccTTgg	p.R2270W	PRIC285_uc002yfl.1_Missense_Mutation_p.R1701W	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2270					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding	p.R2270Q(1)|p.R2270L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CTCCCCTCCCGGGGGCTCTTCC	0.658000														60			31		0	0	0.004672	0	0
PADI3	51702	broad.mit.edu	37	1	17601233	17601233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:17601233G>A	uc001bai.3	+	10	1299	c.1259G>A	c.(1258-1260)gGg>gAg	p.G420E		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	420					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTGGCCAATGGGAAAGAGTAC	0.607000											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			17		0	0	0.006122	0	0
NFS1	9054	broad.mit.edu	37	20	34257606	34257606	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:34257606G>A	uc002xdw.2	-	13	1388	c.1311_splice	c.e13-1	p.S437_splice	CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|NFS1_uc002xdt.2_Splice_Site_p.S377_splice|NFS1_uc010zvl.2_Splice_Site_p.S386_splice|NFS1_uc010zvk.2_Splice_Site_p.S235_splice	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	437					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TCCCAGAGAGGGCTGCCAAAG	0.532000														54			16		0	0	0.006122	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130370521	130370521	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:130370521T>A	uc003qbt.3	+	3	373	c.197T>A	c.(196-198)gTa>gAa	p.V66E	L3MBTL3_uc003qbu.3_Missense_Mutation_p.V66E	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	66					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ACTTGGATGGTACCAACTGCT	0.363000														17			5		0	0	0.001168	0	0
C9orf171	389799	broad.mit.edu	37	9	135413046	135413046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:135413046G>A	uc004cbn.3	+	4	739	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	C9orf171_uc004cbo.3_Missense_Mutation_p.E195K	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	231										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GTGGGTACAGGAACAAAAGGC	0.552000														65			22		0	0	0.002299	0	0
TRAM2	9697	broad.mit.edu	37	6	52372354	52372354	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:52372354A>G	uc003paq.3	-	6	772	c.623T>C	c.(622-624)tTa>tCa	p.L208S	EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_5'Flank	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA.	208	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					CACTCACTTTAAGAGGTATGC	0.453000														29			25		0	0	0.004656	0	0
GLI1	2735	broad.mit.edu	37	12	57865553	57865553	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:57865553C>T	uc001snx.3	+	11	3124	c.3030C>T	c.(3028-3030)agC>agT	p.S1010S	GLI1_uc021qzi.1_Silent_p.S969S|GLI1_uc009zpq.3_Silent_p.S882S	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1010					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAAACCCCAGCTGTGGTCATC	0.587000														69			30		0	0	0.002096	0	0
FAM123B	139285	broad.mit.edu	37	X	63410232	63410232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:63410232G>A	uc022byb.1	-	0	2935	c.2935C>T	c.(2935-2937)Cag>Tag	p.Q979*	FAM123B_uc004dvo.3_Nonsense_Mutation_p.Q979*	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	979	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CTGTCCAACTGGTTGGGGCTT	0.562000														6			7		0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13751222	13751222	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:13751222G>A	uc003jfd.2	-	64	11218	c.11176C>T	c.(11176-11178)Cag>Tag	p.Q3726*	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3726	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGTAACTGATCTTCTAGA	0.453000									Kartagener syndrome					42			15		0	0	0.003163	0	0
STAB2	55576	broad.mit.edu	37	12	104155081	104155081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:104155081G>A	uc001tjw.3	+	65	7438	c.7252G>A	c.(7252-7254)Gag>Aag	p.E2418K	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2418	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.T2417T(1)|p.T2417M(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCCCTAGACGGAGACCAGGTT	0.517000														50			20		0	0	0.002780	0	0
COL7A1	1294	broad.mit.edu	37	3	48618556	48618556	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:48618556G>A	uc003ctz.2	-	52	4936	c.4935_splice	c.e52+1	p.P1645_splice	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1645	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGTCTCACCGGAGGACCCTC	0.557000														10			5		0	0	0.000602	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631753	101631753	+	Missense_Mutation	SNP	C	T	T	rs138439271		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:101631753C>T	uc003knm.3	-	0	501	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	72					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.E72K(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGCTTCTCTTCGGAGACATTG	0.582000														35			15		0	0	0.004990	0	0
CNTN4	152330	broad.mit.edu	37	3	2928860	2928860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:2928860G>A	uc003bpc.3	+	9	1231	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.E298K|CNTN4_uc003bpd.1_Missense_Mutation_p.E298K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	298	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGTGTAGCTGAAAATTCCAG	0.378000														16			4		0	0	0.000602	0	0
THOC5	8563	broad.mit.edu	37	22	29940511	29940511	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:29940511G>A	uc003afr.3	-	3	513	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	THOC5_uc003afs.3_Nonsense_Mutation_p.Q60*|THOC5_uc003aft.3_Nonsense_Mutation_p.Q60*|THOC5_uc003afu.3_Nonsense_Mutation_p.Q60*|THOC5_uc003afv.1_Nonsense_Mutation_p.Q60*|THOC5_uc003afw.1_5'Flank	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	60	Interaction with CSF1R (By similarity).|Interaction with THOC7.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTAGCTCCTGGCAGGTGTAC	0.542000														65			40		0	0	0.006230	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853576	12853576	+	Missense_Mutation	SNP	G	A	A	rs1063759		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12853576G>A	uc001auj.2	+	1	303	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	67								p.L66Q(1)|p.L66M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCTCTGGGATCACTGATG	0.542000														89			38		0	0	0.002852	0	0
SALL2	6297	broad.mit.edu	37	14	21993173	21993173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:21993173C>T	uc001wbe.3	-	1	971	c.689G>A	c.(688-690)gGg>gAg	p.G230E	SALL2_uc010tly.2_Missense_Mutation_p.G228E|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	230							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		AGAGGCAGTCCCTGTCCCAGG	0.592000														29			12		0	0	0.001368	0	0
CD300LG	146894	broad.mit.edu	37	17	41939181	41939181	+	Missense_Mutation	SNP	G	A	A	rs147587037		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:41939181G>A	uc002iem.3	+	6	970	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	301						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGAGGAAAAGGAAGCCCCTTC	0.602000														15			19		0	0	0.001882	0	0
MYH2	4620	broad.mit.edu	37	17	10447105	10447105	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:10447105G>A	uc010coi.3	-	7	792	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.Q222*|MYH2_uc010coj.3_Nonsense_Mutation_p.Q222*	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	222	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGATGATTTGATCTTCCAGA	0.522000														30			12		0	0	0.001368	0	0
PCDH1	5097	broad.mit.edu	37	5	141243015	141243015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:141243015C>T	uc003llp.3	-	2	2998	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S	PCDH1_uc011dbf.2_Missense_Mutation_p.G939S|PCDH1_uc003llq.3_Missense_Mutation_p.G961S	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	961					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCAGGGCTGCCTGGTGGGTAG	0.637000														16			7		0	0	0.003080	0	0
ECE1	1889	broad.mit.edu	37	1	21551882	21551882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:21551882G>A	uc001bek.2	-	16	1976	c.1901C>T	c.(1900-1902)tCc>tTc	p.S634F	ECE1_uc001bem.2_Missense_Mutation_p.S618F|ECE1_uc001bej.2_Missense_Mutation_p.S622F|ECE1_uc001bei.2_Missense_Mutation_p.S631F|ECE1_uc010odl.1_Missense_Mutation_p.S634F	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	634					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGCCTCCACGGATGAGTTCTT	0.627000														18			8		0	0	0.008291	0	0
OR4D9	390199	broad.mit.edu	37	11	59282701	59282701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:59282701C>T	uc010rkv.2	+	0	316	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L106F(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTTCTTCCACCTTCTGGGGGG	0.478000														48			19		0	0	0.007413	0	0
RP1L1	94137	broad.mit.edu	37	8	10470524	10470524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:10470524C>T	uc003wtc.3	-	3	1313	c.1084G>A	c.(1084-1086)Gta>Ata	p.V362I		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	362					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGGGGTCTACCTCCCCCAGA	0.682000														34			27		0	0	0.005443	0	0
KIAA0317	9870	broad.mit.edu	37	14	75139651	75139651	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:75139651G>A	uc001xqb.3	-	10	1810	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	KIAA0317_uc010tut.1_Silent_p.G274G	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	435					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		AGGTCTCAGAGCCTCCTGGGG	0.512000														24			18		0	0	0.008871	0	0
SSH2	85464	broad.mit.edu	37	17	27998981	27998981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:27998981G>A	uc002heo.1	-	7	700	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	SSH2_uc010wbh.1_Missense_Mutation_p.P261S|SSH2_uc002hep.1_Missense_Mutation_p.P234S	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	234					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAGAGTCGGGCCGGTGGGAC	0.443000														85			33		0	0	0.003755	0	0
DNAH7	56171	broad.mit.edu	37	2	196891521	196891521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:196891521C>T	uc002utj.4	-	6	731	c.630G>A	c.(628-630)atG>atA	p.M210I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	210	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATCCTCTCTCATTTCATCAG	0.328000														15			3		0	0	0.009096	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870544	140870544	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140870544C>T	uc003lla.2	+	0	1737	c.1737C>T	c.(1735-1737)ctC>ctT	p.L579L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Silent_p.L579L	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	579	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGCGTCTCCCTCGCTCTG	0.587000														28			7		0	0	0.004482	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829107	96829107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:96829107G>A	uc001kkb.3	-	0	148	c.53C>T	c.(52-54)tCa>tTa	p.S18L	CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_5'UTR|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	18					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCTCCAGAGTGAAAAGAGAAG	0.458000														11			9		0	0	0.008291	0	0
EYA4	2070	broad.mit.edu	37	6	133789771	133789771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:133789771G>A	uc011ecs.2	+	10	1188	c.872G>A	c.(871-873)gGa>gAa	p.G291E	EYA4_uc011ecq.2_Missense_Mutation_p.G237E|EYA4_uc011ecr.2_Missense_Mutation_p.G237E|EYA4_uc003qec.4_Missense_Mutation_p.G291E|EYA4_uc003qed.4_Missense_Mutation_p.G291E|EYA4_uc003qee.4_Missense_Mutation_p.G268E|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	291					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCAACGTATGGAGCGTATATG	0.428000														68			21		0	0	0.010504	0	0
BC067347	0	broad.mit.edu	37	17	20744483	20744483	+	RNA	SNP	A	G	G	rs9906250	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:20744483A>G	uc010crb.2	+	0		c.143A>G								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		GCCTGAGCCCAAGCCGGGGCC	0.751000														13			8		0	0	0.006214	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111595649	111595649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:111595649C>T	uc003kpv.1	-	7	944	c.670G>A	c.(670-672)Gga>Aga	p.G224R		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	224	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGAGTTAATCCTAAGAAATAC	0.358000														25			9		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9063963	9063963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9063963G>A	uc002mkp.3	-	2	23687	c.23483C>T	c.(23482-23484)tCc>tTc	p.S7828F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7830	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7828Y(3)|p.S3461Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGGTCAGGGAGGAAGCTAG	0.542000														49			21		0	0	0.001882	0	0
DOCK1	1793	broad.mit.edu	37	10	128830008	128830008	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:128830008C>T	uc010qun.2	+	16	1783	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	DOCK1_uc001ljt.3_Silent_p.I552I	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	552	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACGATCTTATCGTCTATAAGG	0.438000														32			21		0	0	0.002780	0	0
MYH2	4620	broad.mit.edu	37	17	10436665	10436665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:10436665C>T	uc010coi.3	-	20	2506	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R793Q|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	793	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCTGGGTTCGGGTAATCAG	0.473000														40			16		0	0	0.007413	0	0
OR6T1	219874	broad.mit.edu	37	11	123814015	123814015	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:123814015G>A	uc010sab.2	-	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTCACGAAAGAAGTGGTCAA	0.562000														31			27		0	0	0.006320	0	0
GPR139	124274	broad.mit.edu	37	16	20043675	20043675	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:20043675G>A	uc002dgu.1	-	1	606	c.444C>T	c.(442-444)gtC>gtT	p.V148V	GPR139_uc010vaw.1_Silent_p.V55V	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	148						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CACTTACAATGACTTTCCGGG	0.512000														74			31		0	0	0.002096	0	0
GPD1	2819	broad.mit.edu	37	12	50501442	50501442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:50501442G>A	uc001rvz.3	+	5	738	c.705G>A	c.(703-705)atG>atA	p.M235I	GPD1_uc001rwa.3_Missense_Mutation_p.M212I	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	235					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	TCATGGAGATGATAGCCTTCG	0.587000														107			38		0	0	0.004878	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606491	84606491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:84606491C>T	uc004amn.3	+	3	1153	c.1106C>T	c.(1105-1107)tCt>tTt	p.S369F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	369						integral to membrane		p.S368S(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TCTTTTTCCTCTAATTTTGTG	0.483000														39			11		0	0	0.008291	0	0
OXSR1	9943	broad.mit.edu	37	3	38289197	38289197	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38289197C>T	uc003chy.3	+	13	1638	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	OXSR1_uc010hhb.3_Silent_p.I366I	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	432					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAACCAAGATCCCAATCAGTC	0.368000														18			7		0	0	0.003080	0	0
GLMN	11146	broad.mit.edu	37	1	92713505	92713505	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:92713505G>A	uc001dor.3	-	16	1630	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Silent_p.F491F	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	505					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GTGGCTTTAAGAAATTATTCT	0.289000									Multiple Glomus Tumors (of the Skin), Familial					37			7		0	0	0.008291	0	0
MMP27	64066	broad.mit.edu	37	11	102565806	102565806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:102565806C>T	uc001phd.1	-	6	948	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	309	Hemopexin-like 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TCCGTGATATCATAATAGATC	0.403000														34			11		0	0	0.000978	0	0
PADI3	51702	broad.mit.edu	37	1	17601191	17601191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:17601191C>T	uc001bai.3	+	10	1257	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	406					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGCCTGGACTCCTTTGGGAAC	0.607000											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			11		0	0	0.000978	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655883	138655883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:138655883G>A	uc003qhu.3	+	32	6071	c.5900G>A	c.(5899-5901)aGc>aAc	p.S1967N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1967					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GATGACAGAAGCCAGTCCCGG	0.642000														11			4		0	0	0.009096	0	0
KCNK10	54207	broad.mit.edu	37	14	88693840	88693840	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:88693840A>G	uc001xwm.3	-	3	682	c.560T>C	c.(559-561)aTc>aCc	p.I187T	KCNK10_uc001xwn.3_Missense_Mutation_p.I187T|KCNK10_uc001xwo.3_Missense_Mutation_p.I182T	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	182					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AATACAAAAGATTTTGCCTCC	0.408000														48			21		0	0	0.002780	0	0
CSMD2	114784	broad.mit.edu	37	1	34015943	34015943	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:34015943G>A	uc001bxm.1	-	55	8928	c.8751C>T	c.(8749-8751)tcC>tcT	p.S2917S	CSMD2_uc001bxn.1_Silent_p.S2773S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2892	Sushi 21.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GATGGCCACAGGACACCACTG	0.562000														33			10		0	0	0.006214	0	0
UCK1	83549	broad.mit.edu	37	9	134404656	134404656	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:134404656A>G	uc004cay.3	-	4	467	c.366_splice	c.e4-1	p.R122_splice	UCK1_uc010mzk.3_Splice_Site_p.R113_splice|UCK1_uc004cba.3_Splice_Site_p.R122_splice|UCK1_uc004caz.3_Splice_Site	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	122					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GTCTCTGGTAACCTGAGGGGC	0.602000														27			6		0	0	0.001168	0	0
PEG3	5178	broad.mit.edu	37	19	57293392	57293392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:57293392G>A	uc002qnr.2	-	8	957	c.575C>T	c.(574-576)tCc>tTc	p.S192F	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc010etp.2_Missense_Mutation_p.S192F|PEG3_uc010ygs.1_Missense_Mutation_p.S192F|PEG3_uc002qnq.2_Missense_Mutation_p.S192F	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	334					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P191H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGCACTAAGGGAACTAAGTTC	0.502000														53			26		0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13928256	13928256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:13928256C>T	uc003jfd.2	-	2	266	c.224G>A	c.(223-225)gGa>gAa	p.G75E	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	75	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGAGACCTCCAACAGCAAA	0.338000									Kartagener syndrome					42			11		0	0	0.001855	0	0
EPHB2	2048	broad.mit.edu	37	1	23111538	23111538	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:23111538C>T	uc009vqj.1	+	2	925	c.780C>T	c.(778-780)ttC>ttT	p.F260F	EPHB2_uc001bge.3_Silent_p.F260F|EPHB2_uc001bgf.3_Silent_p.F260F|EPHB2_uc010odu.2_Silent_p.F260F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	260	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AAGCAGGCTTCGAGGCCGTTG	0.617000														63			18		0	0	0.006122	0	0
NT5M	56953	broad.mit.edu	37	17	17207002	17207002	+	Silent	SNP	G	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:17207002G>C	uc002grf.3	+	0	323	c.138G>C	c.(136-138)ctG>ctC	p.L46L	NT5M_uc002grg.3_Silent_p.L46L	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	46					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						ACGGCGTGCTGGCTGACTTCG	0.756000														18			8		0	0	0.008291	0	0
USP7	7874	broad.mit.edu	37	16	8995974	8995974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:8995974G>A	uc002czl.2	-	17	2211	c.2012C>T	c.(2011-2013)gCt>gTt	p.A671V	USP7_uc010uyk.1_Missense_Mutation_p.A572V|USP7_uc010uyj.1_Missense_Mutation_p.A572V|USP7_uc002czk.2_Missense_Mutation_p.A655V|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	671	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGCTCCACTAGCAGCCAGCTC	0.458000														46			16		0	0	0.007413	0	0
LAMA2	3908	broad.mit.edu	37	6	129833584	129833584	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:129833584G>A	uc021zfb.1	+	62	9039	c.8934G>A	c.(8932-8934)ctG>ctA	p.L2978L	LAMA2_uc003qbn.3_Silent_p.L2976L|LAMA2_uc003qbo.3_Silent_p.L2972L|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2978	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2978L(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGTTCTTCTGGGGATCAGTA	0.358000														67			25		0	0	0.003954	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430968	37430968	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:37430968G>A	uc021ppc.1	+	6	1074	c.975G>A	c.(973-975)agG>agA	p.R325R	ANKRD30A_uc001iza.1_Silent_p.R325R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	381						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGACCTAGGAAGATCGCAT	0.428000														42			26		0	0	0.004656	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249718	140249718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140249718G>A	uc003lia.2	+	0	1888	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.D344N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	360	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACACCAACGATAACTCTCC	0.512000														40			11		0	0	0.002450	0	0
CPAMD8	27151	broad.mit.edu	37	19	17013605	17013605	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:17013605C>T	uc002nfb.3	-	34	4712	c.4680G>A	c.(4678-4680)caG>caA	p.Q1560Q	CPAMD8_uc002nfd.1_Silent_p.Q25Q	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1513						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTCAGGCTCCTGGAGGCTTA	0.657000														70			37		0	0	0.006230	0	0
LRP1B	53353	broad.mit.edu	37	2	141641501	141641501	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:141641501T>A	uc002tvj.1	-	24	5026	c.4054A>T	c.(4054-4056)Ata>Tta	p.I1352L	LRP1B_uc010fnl.1_Missense_Mutation_p.I534L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1352					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCTGTCTATCCAGTATATG	0.493000										TSP Lung(27;0.18)				65			27		0	0	0.007291	0	0
OR51I1	390063	broad.mit.edu	37	11	5462652	5462652	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:5462652C>T	uc010qze.2	-	0	132	c.93G>A	c.(91-93)ctG>ctA	p.L31L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGAAAATCAGGGCAACCC	0.537000														49			17		0	0	0.004990	0	0
APCS	325	broad.mit.edu	37	1	159558454	159558454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:159558454G>A	uc001ftv.3	+	1	724	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	210	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCTGAACTATGAAATCAGAGG	0.488000														45			11		0	0	0.002450	0	0
OR1L6	392390	broad.mit.edu	37	9	125512364	125512364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:125512364C>T	uc022bna.1	+	0	238	c.238C>T	c.(238-240)Cct>Tct	p.P80S		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						AGTCATAGTGCCTAAGATGCT	0.468000														37			23		0	0	0.003330	0	0
PHGDH	26227	broad.mit.edu	37	1	120277300	120277300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:120277300C>T	uc001ehz.3	+	5	781	c.554C>T	c.(553-555)tCc>tTc	p.S185F	PHGDH_uc009whl.3_Missense_Mutation_p.S87F|PHGDH_uc009whm.3_Missense_Mutation_p.S83F|PHGDH_uc001eib.3_Missense_Mutation_p.S151F	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	185					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GTCTCGGCCTCCTTTGGTGTT	0.507000														675			230		0	0	0.003610	0	0
SEC14L3	266629	broad.mit.edu	37	22	30857339	30857339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:30857339C>T	uc003ahy.3	-	10	1128	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M	SEC14L3_uc003ahz.3_Missense_Mutation_p.V270M|SEC14L3_uc003aia.3_Missense_Mutation_p.V288M|SEC14L3_uc003aib.3_Missense_Mutation_p.V288M	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	347	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCCTCGGGCACCATGTGGGCG	0.607000														59			19		0	0	0.007413	0	0
KDM8	79831	broad.mit.edu	37	16	27221559	27221559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:27221559G>A	uc010vcn.1	+	1	347	c.229G>A	c.(229-231)Gag>Aag	p.E77K	KDM8_uc010bxv.2_Missense_Mutation_p.E39K|KDM8_uc002doh.2_Missense_Mutation_p.E39K|KDM8_uc010bxw.2_Missense_Mutation_p.E39K	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	39					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										GGACCTCGGGGAGAAAGTGGA	0.612000														23			18		0	0	0.006122	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140810551	140810551	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140810551C>T	uc003lkt.2	+	0	394	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.F75F	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	75	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCTTTTCGCCCTGAATC	0.632000														57			28		0	0	0.007291	0	0
HAS1	3036	broad.mit.edu	37	19	52217175	52217175	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:52217175G>A	uc002pxn.1	-	3	1276	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	HAS1_uc010epc.1_Silent_p.F14F|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Silent_p.F414F|HAS1_uc002pxp.1_Silent_p.F413F	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	414					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.L420L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGCCGCCACGAAGAAGGGGA	0.672000														22			6		0	0	0.006214	0	0
HYDIN	54768	broad.mit.edu	37	16	71098709	71098709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:71098709C>T	uc002ezr.3	-	15	2261	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	HYDIN_uc010cfz.2_Missense_Mutation_p.E449K|HYDIN_uc021tkq.1_Missense_Mutation_p.E704K|HYDIN_uc010vmc.2_Missense_Mutation_p.E721K|HYDIN_uc010vmd.2_Missense_Mutation_p.E731K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	704										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAGTCCACCTCTGTATTGACC	0.502000														32			28		0	0	0.007291	0	0
MAPT	4137	broad.mit.edu	37	17	44060998	44060998	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:44060998C>T	uc002ijr.4	+	5	1150	c.828C>T	c.(826-828)tcC>tcT	p.S276S	MAPT_uc010dau.3_Silent_p.S276S|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Silent_p.S124S	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	276					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CCAAAGTTTCCACAGAGATCC	0.642000														55			7		0	0	0.006214	0	0
VPS13A	23230	broad.mit.edu	37	9	79890467	79890467	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:79890467C>T	uc004akr.3	+	24	2826	c.2566C>T	c.(2566-2568)Cag>Tag	p.Q856*	VPS13A_uc004akp.4_Nonsense_Mutation_p.Q856*|VPS13A_uc004akq.4_Nonsense_Mutation_p.Q856*|VPS13A_uc004aks.3_Nonsense_Mutation_p.Q856*	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	856					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAACCTCTTCAGTTTCCAAC	0.313000														53			31		0	0	0.003271	0	0
ADCY5	111	broad.mit.edu	37	3	123019094	123019094	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:123019094G>A	uc003egh.2	-	14	2773	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L	ADCY5_uc021xdd.1_Silent_p.L575L|ADCY5_uc003egg.2_Silent_p.L558L|ADCY5_uc003egi.1_Silent_p.L484L	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	925					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTGATCTGCAGGAACACGGAG	0.642000														27			7		0	0	0.004482	0	0
STAB2	55576	broad.mit.edu	37	12	104048356	104048356	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:104048356C>T	uc001tjw.3	+	12	1617	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	477	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTTAAACTCCATGGAGGCA	0.403000														24			6		0	0	0.001984	0	0
LEMD2	221496	broad.mit.edu	37	6	33752165	33752165	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:33752165G>A	uc011drm.2	-	2	830	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	LEMD2_uc011drl.2_5'UTR	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	273						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AGTTCATGCAGCAGCTCCAGC	0.572000														45			17		0	0	0.004990	0	0
ADAM7	8756	broad.mit.edu	37	8	24299996	24299996	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:24299996C>T	uc003xeb.3	+	1	176	c.63C>T	c.(61-63)atC>atT	p.I21I	ADAM7_uc003xea.1_Silent_p.I21I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	21					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAAAGTTCATCCTTGGAGTAG	0.408000														86			28		0	0	0.008361	0	0
LUZP2	338645	broad.mit.edu	37	11	24936055	24936055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:24936055C>T	uc001mqs.3	+	6	767	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	LUZP2_uc009yif.3_Missense_Mutation_p.R79C|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	165	Leucine-zipper.					extracellular region		p.R165H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAGGAGCTTCGTTATGGGAA	0.318000														17			7		0	0	0.004482	0	0
CASP9	842	broad.mit.edu	37	1	15819453	15819453	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:15819453G>A	uc001awn.3	-	8	1481	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	CASP9_uc001awm.2_3'UTR|CASP9_uc001awo.3_Silent_p.F262F|CASP9_uc001awp.3_Silent_p.F256F|CASP9_uc009voi.3_Silent_p.F256F|CASP9_uc010obm.2_Silent_p.F329F	NM_001229	NP_127463	P55211	CASP9_HUMAN	Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.	412					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ATGTTTTAAAGAAAAGTTTTT	0.483000														63			34		0	0	0.004878	0	0
CPXM2	119587	broad.mit.edu	37	10	125530537	125530537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:125530537C>T	uc001lhk.1	-	7	1322	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	333					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGACACATTTCATTCACAACT	0.433000														71			55		0	0	0.003610	0	0
NKAIN2	154215	broad.mit.edu	37	6	125112496	125112496	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:125112496C>T	uc003pzo.3	+	4	763	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NKAIN2_uc010keq.3_Silent_p.F95F|NKAIN2_uc003pzp.3_Silent_p.F161F|NKAIN2_uc010ker.3_Silent_p.F72F	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	162						integral to membrane|plasma membrane		p.G161V(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TGGCAGGTTTCATCTACGCCT	0.403000														25			10		0	0	0.008291	0	0
ABCA3	21	broad.mit.edu	37	16	2376160	2376160	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:2376160T>A	uc002cpy.1	-	4	882	c.170A>T	c.(169-171)tAc>tTc	p.Y57F	ABCA3_uc010bsk.1_Missense_Mutation_p.Y57F|ABCA3_uc010bsl.1_Missense_Mutation_p.Y57F|ABCA3_uc002cpz.1_Missense_Mutation_p.Y57F	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	57					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTGGCCCGGGTAGATGGTGGC	0.577000														31			20		0	0	0.002299	0	0
DUOX2	50506	broad.mit.edu	37	15	45399629	45399629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:45399629C>T	uc001zun.3	-	13	1810	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q	DUOX2_uc010bea.3_Missense_Mutation_p.R536Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	536	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTGGTATTTCGGATGTCTTC	0.557000														51			23		0	0	0.002299	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160273928	160273928	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:160273928G>A	uc003iqg.4	+	20	3784	c.3474G>A	c.(3472-3474)tcG>tcA	p.S1158S		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1158	Ser-rich.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTAGCAATTCGTCTTTTGACT	0.483000														28			15		0	0	0.004990	0	0
FMN2	56776	broad.mit.edu	37	1	240286540	240286540	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:240286540G>A	uc010pye.2	+	1	1902	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	FMN2_uc010pyd.2_Silent_p.E559E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	559					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E702E(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGAAGCAGAGAAGTTTTGCT	0.522000														38			17		0	0	0.004990	0	0
ABLIM3	22885	broad.mit.edu	37	5	148630942	148630942	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:148630942C>T	uc003lpy.2	+	20	2060	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	ABLIM3_uc003lpz.1_Silent_p.F603F|ABLIM3_uc003lqa.1_Silent_p.F500F|ABLIM3_uc003lqb.3_Silent_p.F492F|ABLIM3_uc003lqc.1_Silent_p.F570F|ABLIM3_uc003lqd.1_Silent_p.F508F|ABLIM3_uc003lqe.1_Silent_p.F492F|ABLIM3_uc003lqf.3_Silent_p.F492F	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	603					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCTCTTCCACTACGACA	0.582000														16			12		0	0	0.002450	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454988	84454988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:84454988C>T	uc001vlk.3	-	0	1541	c.655G>A	c.(655-657)Gat>Aat	p.D219N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	219	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGAGCAGATCACAGGTGCAG	0.547000														27			9		0	0	0.004482	0	0
HTR1A	3350	broad.mit.edu	37	5	63257040	63257040	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:63257040G>A	uc011cqt.2	-	0	507	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	169					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.S168F(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCATGGGCGGGATAGAGATGA	0.612000														93			44		0	0	0.003610	0	0
MYOM3	127294	broad.mit.edu	37	1	24417428	24417428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:24417428G>A	uc001bin.4	-	11	1454	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	MYOM3_uc001bim.4_Missense_Mutation_p.R88W|MYOM3_uc001bio.3_Missense_Mutation_p.R431W|MYOM3_uc001bip.1_Missense_Mutation_p.R88W	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	431	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATTGGGCACCGACAAGTCCCT	0.642000														55			14		0	0	0.008871	0	0
NOX3	50508	broad.mit.edu	37	6	155732367	155732367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:155732367G>A	uc003qqm.3	-	10	1539	c.1436C>T	c.(1435-1437)aCc>aTc	p.T479I		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	479							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ATCCCAGCCGGTAAGAAATAT	0.398000														25			8		0	0	0.003080	0	0
SCN10A	6336	broad.mit.edu	37	3	38751002	38751002	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38751002G>A	uc003ciq.3	-	23	4248	c.4248C>T	c.(4246-4248)gtC>gtT	p.V1416V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1416					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTCAATTATGACCCCAACAA	0.408000														31			8		0	0	0.004482	0	0
POM121L12	285877	broad.mit.edu	37	7	53103667	53103667	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:53103667C>T	uc003tpz.3	+	0	319	c.303C>T	c.(301-303)gcC>gcT	p.A101A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	101										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGCGCCCTGCCCTTCCCGGGG	0.726000														22			8		0	0	0.003080	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517495	158517495	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:158517495G>C	uc010pil.2	-	0	401	c.401C>G	c.(400-402)cCa>cGa	p.P134R		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTAGCGTAGTGGATTACAAAT	0.468000														22			10		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179579150	179579150	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179579150C>T	uc021vsy.1	-	87	22844	c.22619G>A	c.(22618-22620)tGg>tAg	p.W7540*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.W4201*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8467	Ig-like 57.						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)			ATAAGAAATCCATATGTTGTC	0.408000														26			12		0	0	0.001368	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11864800	11864800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:11864800G>A	uc002dbk.3	-	8	1145	c.947C>T	c.(946-948)tCt>tTt	p.S316F	ZC3H7A_uc002dbl.3_Missense_Mutation_p.S316F|ZC3H7A_uc002dbm.2_Intron	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	316						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CATGCTAGGAGAGACACTGGC	0.483000														53			23		0	0	0.003330	0	0
TRERF1	55809	broad.mit.edu	37	6	42236163	42236163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:42236163G>A	uc003ose.2	-	4	1729	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	TRERF1_uc011duq.1_Missense_Mutation_p.P389L|TRERF1_uc003osb.2_Missense_Mutation_p.P228L|TRERF1_uc003osc.2_Missense_Mutation_p.P228L|TRERF1_uc003osd.2_Missense_Mutation_p.P389L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	389	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGTAGAGGGGGTGGCTGTA	0.612000														118			35		0	0	0.003755	0	0
MDGA2	161357	broad.mit.edu	37	14	47566138	47566138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:47566138C>T	uc001wwj.4	-	5	1272	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	MDGA2_uc001wwi.4_Missense_Mutation_p.D74N|MDGA2_uc010ani.3_5'UTR	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	303	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCAGCATCATCTGAGGTGATG	0.458000														43			17		0	0	0.008871	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169087	32169087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32169087C>T	uc003obb.3	-	21	4085	c.3946G>A	c.(3946-3948)Gcc>Acc	p.A1316T	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1316					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCACCCGGGCCAGGGCAAAC	0.647000														241			70		0	0	0.003610	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12941848	12941848	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12941848C>T	uc001aun.2	-	2	773	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	234										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAAGATTCCTCATGTGGC	0.488000														202			96		0	0	0.003610	0	0
ASAH2	56624	broad.mit.edu	37	10	51974535	51974535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:51974535C>T	uc001jjd.3	-	7	1108	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	ASAH2_uc009xos.3_Missense_Mutation_p.D370N	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	370					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TTGGCGTTATCACAGGACTCT	0.418000														8			3		0	0	0.003080	0	0
EPPK1	83481	broad.mit.edu	37	8	144940269	144940269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:144940269C>T	uc003zaa.1	-	0	7166	c.7153G>A	c.(7153-7155)Ggc>Agc	p.G2385S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2385						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGAAGAAGCCCTTGGTGTCG	0.647000														351			11		0	0	0.000978	0	0
FUT9	10690	broad.mit.edu	37	6	96651677	96651677	+	Missense_Mutation	SNP	C	T	T	rs146949446		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:96651677C>T	uc003pop.4	+	2	987	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	FUT9_uc021zcw.1_Missense_Mutation_p.H216Y	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	216					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CATTGAAATCCATACCTACGG	0.373000														27			10		0	0	0.006214	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229160	8229160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:8229160G>A	uc003gkv.4	+	11	1840	c.1739G>A	c.(1738-1740)cGg>cAg	p.R580Q	SH3TC1_uc003gkw.4_Missense_Mutation_p.R504Q|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	580							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCCCAGGCCCGGGTGTACTTT	0.667000														67			24		0	0	0.004656	0	0
RSPO2	340419	broad.mit.edu	37	8	108970434	108970434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:108970434C>T	uc003yms.3	-	4	1148	c.490G>A	c.(490-492)Gga>Aga	p.G164R	RSPO2_uc003ymq.3_Missense_Mutation_p.G97R|RSPO2_uc003ymr.3_Missense_Mutation_p.G100R	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	164	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CATTTAAATCCACATGTGCGA	0.388000														34			10		0	0	0.008291	0	0
APOBR	55911	broad.mit.edu	37	16	28509501	28509501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:28509501C>T	uc002dqb.2	+	2	3088	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.R548W	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	1010					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CTCTTTTCGTCGGACTCCGGC	0.682000														4			7		0	0	0.001984	0	0
MEP1A	4224	broad.mit.edu	37	6	46794105	46794105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:46794105C>T	uc011dwh.1	+	7	885	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F	MEP1A_uc010jzh.1_Missense_Mutation_p.L265F|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.L165F	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	265	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.Q292Q(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AACTCACACTCTTTTGGACCA	0.418000														45			13		0	0	0.001855	0	0
OR4K1	79544	broad.mit.edu	37	14	20404300	20404300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20404300C>T	uc001vwj.2	+	0	534	c.475C>T	c.(475-477)Cac>Tac	p.H159Y		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTCTGTGAGCCACTTGGCTTT	0.478000														44			17		0	0	0.004990	0	0
ADI1	55256	broad.mit.edu	37	2	3504598	3504598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:3504598G>A	uc002qxp.4	-	2	499	c.407C>T	c.(406-408)aCg>aTg	p.T136M	ADI1_uc010yiq.2_Non-coding_Transcript	NM_018269	NP_060739	Q9BV57	MTND_HUMAN	Homo sapiens acireductone dioxygenase 1 (ADI1), mRNA.	136					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CTCGTCCACCGTGAAGCGGTG	0.637000														21			9		0	0	0.004482	0	0
TMEM59L	25789	broad.mit.edu	37	19	18726820	18726820	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:18726820C>T	uc010ebu.1	+	3	531	c.444C>T	c.(442-444)tcC>tcT	p.S148S	TMEM59L_uc002njy.4_Silent_p.S148S	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	148						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGGCCCTCTCCCTCTTGGACT	0.507000														66			24		0	0	0.003330	0	0
BTBD7	55727	broad.mit.edu	37	14	93720013	93720013	+	Missense_Mutation	SNP	G	A	A	rs143914698		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:93720013G>A	uc001ybo.3	-	6	2058	c.1732C>T	c.(1732-1734)Ccc>Tcc	p.P578S	BTBD7_uc010aur.3_Missense_Mutation_p.P103S|BTBD7_uc010two.2_Missense_Mutation_p.P398S|BTBD7_uc001ybp.3_Missense_Mutation_p.P227S	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	578										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCCACATAGGGAGAGAAGAGT	0.398000														44			9		0	0	0.006214	0	0
NUP214	8021	broad.mit.edu	37	9	134011373	134011373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:134011373C>T	uc004cag.3	+	8	1096	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F	NUP214_uc004cah.3_Missense_Mutation_p.L329F|NUP214_uc004caf.1_Missense_Mutation_p.L329F	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	329					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTTAGTATCCTTGCTCGACA	0.388000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									27			17		0	0	0.008871	0	0
LRRC16B	90668	broad.mit.edu	37	14	24525540	24525540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:24525540G>A	uc001wlj.2	+	10	960	c.803G>A	c.(802-804)gGg>gAg	p.G268E		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	268										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGGTGTTTGGGGAGAACGGG	0.622000														11			3		0	0	0.004672	0	0
FDXR	2232	broad.mit.edu	37	17	72860067	72860067	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:72860067G>A	uc010wrl.2	-	9	1341	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	FDXR_uc010wri.2_Silent_p.S323S|FDXR_uc010wrj.2_Silent_p.S373S|FDXR_uc002jlw.3_Silent_p.S132S|FDXR_uc002jlx.3_Silent_p.S381S|FDXR_uc002jly.3_Silent_p.S375S|FDXR_uc010wrk.2_Silent_p.S406S|FDXR_uc010wrm.2_Silent_p.S335S|FDXR_uc002jlz.3_Silent_p.S367S|FDXR_uc002jmb.3_Intron	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	375					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCCAAGCTTGGAGTCAAAGG	0.597000														93			25		0	0	0.004656	0	0
ATP10D	57205	broad.mit.edu	37	4	47514830	47514830	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:47514830A>G	uc003gxk.1	+	1	437	c.273A>G	c.(271-273)ttA>ttG	p.L91L	ATP10D_uc003gxj.3_Silent_p.L91L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	91					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAAGAAATTTATTTGAACAAT	0.318000														21			9		0	0	0.006214	0	0
USP47	55031	broad.mit.edu	37	11	11919184	11919184	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:11919184G>A	uc001mjs.3	+	4	1300	c.537G>A	c.(535-537)ttG>ttA	p.L179L	USP47_uc001mjq.1_Silent_p.L199L|USP47_uc001mjr.3_Silent_p.L111L	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	199					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CTTGCTATTTGAATAGCCTTT	0.259000														41			19		0	0	0.001882	0	0
TFAP2C	7022	broad.mit.edu	37	20	55209280	55209280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:55209280G>A	uc002xya.3	+	4	1121	c.878G>A	c.(877-879)aGg>aAg	p.R293K	TFAP2C_uc010zzi.2_Missense_Mutation_p.R124K	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	293	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.G292G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CCGGCCGGGAGGCGGAAAGCC	0.463000														25			13		0	0	0.001368	0	0
FAM47A	158724	broad.mit.edu	37	X	34149014	34149014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:34149014G>A	uc004ddg.3	-	0	1434	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	461										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCACAAGGGGATTTATGAGG	0.582000														11			19		0	0	0.010504	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987110	7987110	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:7987110A>G	uc003mxx.4	+	0	776	c.341A>G	c.(340-342)aAc>aGc	p.N114S	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		GAAGGGAGCAACCTGACCCCT	0.527000														26			8		0	0	0.003080	0	0
PRRG3	79057	broad.mit.edu	37	X	150868549	150868549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:150868549G>A	uc022cgt.1	+	2	138	c.89G>A	c.(88-90)gGc>gAc	p.G30D	PRRG3_uc004few.2_Missense_Mutation_p.G30D	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	30	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCGCCAGGGCACCATCGAG	0.562000														7			16		0	0	0.004007	0	0
F5	2153	broad.mit.edu	37	1	169524446	169524446	+	Silent	SNP	T	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:169524446T>G	uc001ggg.1	-	6	1237	c.1092A>C	c.(1090-1092)gcA>gcC	p.A364A	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	364	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.Y363Y(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTATTACAGGTGCATAGTCCC	0.458000														73			34		0	0	0.003755	0	0
NACA2	342538	broad.mit.edu	37	17	59668312	59668312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:59668312C>T	uc002izj.2	-	0	252	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	77	NAC-A/B.				protein transport	cytoplasm|nucleus		p.R77W(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CATAGCCTTCCGTGCCCTCTT	0.463000														94			78		0	0	0.003610	0	0
SH3BGR	6450	broad.mit.edu	37	21	40847107	40847107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:40847107C>T	uc002yya.3	+	2	521	c.467C>T	c.(466-468)tCc>tTc	p.S156F	SH3BGR_uc002yxz.3_Missense_Mutation_p.S45F	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	156					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		ATTATTTATTCCTTCCTTGGT	0.373000														21			5		0	0	0.001168	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175498	140175498	+	Missense_Mutation	SNP	G	A	A	rs17844246		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140175498G>A	uc003lhd.2	+	0	1055	c.949G>A	c.(949-951)Gag>Aag	p.E317K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E317K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E317K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	332	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTCCTACGAGATTCAGGT	0.388000														20			8		0	0	0.004482	0	0
LAMC1	3915	broad.mit.edu	37	1	183083788	183083788	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:183083788T>G	uc001gpy.4	+	4	1401	c.1144T>G	c.(1144-1146)Tgc>Ggc	p.C382G		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	382	Laminin EGF-like 2.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTGAGAGGTGCCGAGAGAA	0.522000														55			33		0	0	0.009535	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786396	128786396	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:128786396T>C	uc001qet.3	+	2	1344	c.1030T>C	c.(1030-1032)Tat>Cat	p.Y344H	KCNJ5_uc009zck.3_Missense_Mutation_p.Y344H|KCNJ5_uc001qew.3_Missense_Mutation_p.Y344H	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	344					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AAAGGGCTTCTATGAGGTGGA	0.562000														80			42		0	0	0.003610	0	0
EXD2	55218	broad.mit.edu	37	14	69704344	69704344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:69704344G>A	uc001xky.3	+	8	1591	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	EXD2_uc001xkt.3_Missense_Mutation_p.D324N|EXD2_uc001xkv.3_Missense_Mutation_p.D449N|EXD2_uc001xkw.3_Missense_Mutation_p.D324N|EXD2_uc001xku.3_Missense_Mutation_p.D194N|EXD2_uc001xkx.3_Missense_Mutation_p.D324N|EXD2_uc010aqt.3_Missense_Mutation_p.D449N|EXD2_uc010tte.2_Missense_Mutation_p.D449N	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	324					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CGAGATGAAGGACCACAACTC	0.532000														25			3		0	0	0.004672	0	0
GALNT8	26290	broad.mit.edu	37	12	4870183	4870183	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:4870183G>A	uc001qne.1	+	6	1325	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	411	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCCACCTAGAGAGACACCACA	0.547000														33			19		0	0	0.008871	0	0
DCT	1638	broad.mit.edu	37	13	95092305	95092305	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:95092305C>T	uc010afh.3	-	9	1933	c.1506G>A	c.(1504-1506)tgG>tgA	p.W502*	DCT_uc001vlv.4_Nonsense_Mutation_p.W469*	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	469					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.G501*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GAGTTGTGGGCCAACCTGGAG	0.408000														19			8		0	0	0.006214	0	0
GLRB	2743	broad.mit.edu	37	4	157999189	157999189	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:157999189T>C	uc003ipj.2	+	1	215	c.13T>C	c.(13-15)Ttg>Ctg	p.L5L	GLRB_uc021xtp.1_Silent_p.L5L|GLRB_uc021xtq.1_Silent_p.L5L	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	5					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GAAGTTTTTATTGACAACTGC	0.318000														10			7		0	0	0.001984	0	0
DNAH8	1769	broad.mit.edu	37	6	38897335	38897335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:38897335C>T	uc021yzh.1	+	74	11276	c.11167C>T	c.(11167-11169)Ctt>Ttt	p.L3723F	DNAH8_uc003ooe.2_Missense_Mutation_p.L3506F|DNAH8_uc003oog.1_5'UTR|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGGACAGCCTTTCCTTGGG	0.413000														74			23		0	0	0.006320	0	0
KIAA1244	57221	broad.mit.edu	37	6	138531086	138531086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:138531086G>A	uc003qhu.3	+	3	430	c.259G>A	c.(259-261)Gat>Aat	p.D87N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	87					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.T86T(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGGAAACAGATTCTGATGA	0.488000														77			17		0	0	0.007413	0	0
GPR158	57512	broad.mit.edu	37	10	25684905	25684905	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:25684905C>T	uc001isj.3	+	2	1134	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	358						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGCAGGATTCTATCATCCTG	0.363000														15			13		0	0	0.006122	0	0
OR4C11	219429	broad.mit.edu	37	11	55371798	55371798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:55371798C>T	uc010rii.2	-	0	77	c.52G>A	c.(52-54)Gat>Aat	p.D18N		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTCAAGGGATCCTGTGTTAAT	0.383000														12			17		0	0	0.004007	0	0
OR1D5	8386	broad.mit.edu	37	17	2966263	2966263	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:2966263G>A	uc021tns.1	-	0	639	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						ATGTGGTCATGAACCCTAAGG	0.493000														12			6		0	0	0.006214	0	0
CASP10	843	broad.mit.edu	37	2	202073798	202073798	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:202073798C>T	uc002uxj.1	+	8	1346	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Silent_p.L243L|CASP10_uc002uxk.1_Silent_p.L267L|CASP10_uc002uxl.2_Silent_p.L310L|CASP10_uc002uxm.2_Silent_p.L267L	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	310					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AACAGAGATCCTGAGTCATGT	0.378000														21			14		0	0	0.001855	0	0
A1CF	29974	broad.mit.edu	37	10	52601719	52601719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:52601719C>T	uc001jjj.3	-	4	456	c.268G>A	c.(268-270)Gat>Aat	p.D90N	A1CF_uc010qho.2_Missense_Mutation_p.D98N|A1CF_uc010qhn.2_Missense_Mutation_p.D98N|A1CF_uc009xov.3_Missense_Mutation_p.D90N|A1CF_uc001jji.3_Missense_Mutation_p.D90N|A1CF_uc001jjh.3_Missense_Mutation_p.D98N|A1CF_uc001jjk.1_Missense_Mutation_p.D90N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	90	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCATTAAAATCCATCATCATT	0.289000														20			7		0	0	0.001984	0	0
CDH7	1005	broad.mit.edu	37	18	63477088	63477088	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:63477088T>C	uc002lkb.3	+	2	785	c.359T>C	c.(358-360)cTc>cCc	p.L120P	CDH7_uc002ljz.3_Missense_Mutation_p.L120P|CDH7_uc002lka.3_Missense_Mutation_p.L120P	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	120	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACTACACGCTCCGAGCTCAA	0.493000														37			12		0	0	0.001368	0	0
abParts	0	broad.mit.edu	37	14	106610536	106610536	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106610536C>T	uc021ser.1	-	1671		c.32035G>A								Parts of antibodies, mostly variable regions.																		GAAAGTGAATCCAGAGGCTGC	0.577000														60			21		0	0	0.008871	0	0
ZNF597	146434	broad.mit.edu	37	16	3486612	3486612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:3486612G>A	uc002cvd.3	-	3	1271	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCCTCTGTATGAATGTTCtga	0.448000														3			4		0	0	0.009096	0	0
XDH	7498	broad.mit.edu	37	2	31621561	31621561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:31621561C>T	uc002rnv.1	-	4	390	c.311G>A	c.(310-312)aGa>aAa	p.R104K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	104					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTTGGCAATTCTCTCCTAAAA	0.557000														68			30		0	0	0.002445	0	0
CHCHD10	400916	broad.mit.edu	37	22	24108364	24108364	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:24108364G>A	uc002zxw.3	-	2	440	c.360C>T	c.(358-360)tcC>tcT	p.S120S		NM_213720	NP_998885	Q8WYQ3	CHC10_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10), mRNA.	120	CHCH.					mitochondrion				large_intestine(2)|lung(1)	3						CCTCACACAGGGACAGGTCAC	0.662000														15			4		0	0	0.000602	0	0
SGSM1	129049	broad.mit.edu	37	22	25251354	25251354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:25251354C>T	uc003abg.2	+	6	783	c.626C>T	c.(625-627)tCc>tTc	p.S209F	SGSM1_uc010guu.1_Missense_Mutation_p.S209F|SGSM1_uc003abh.2_Missense_Mutation_p.S209F|SGSM1_uc003abj.2_Missense_Mutation_p.S209F|SGSM1_uc003abi.1_Missense_Mutation_p.S184F|SGSM1_uc003abf.2_Missense_Mutation_p.S209F	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	209						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ATCCACAGCTCCCACGTGCGG	0.622000														15			7		0	0	0.001984	0	0
UGT2B11	10720	broad.mit.edu	37	4	70071286	70071286	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:70071286C>T	uc003heh.3	-	4	1012	c.1003_splice	c.e4-1	p.V335_splice	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	335					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCCACAGAACCTGTTACAGTA	0.398000														42			14		0	0	0.001855	0	0
SELP	6403	broad.mit.edu	37	1	169564075	169564075	+	Silent	SNP	C	T	T	rs138760541	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:169564075C>T	uc001ggi.4	-	12	2207	c.2142G>A	c.(2140-2142)gcG>gcA	p.A714A	SELP_uc001ggh.3_Silent_p.A549A|SELP_uc009wvr.3_Silent_p.A714A	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	714	Sushi 9.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGCAGTTCATCGCTATTGGCT	0.408000														23			10		0	0	0.000978	0	0
OR52N4	390072	broad.mit.edu	37	11	5776591	5776591	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:5776591G>A	uc001mbu.3	+	0	669	c.621G>A	c.(619-621)ctG>ctA	p.L207L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTGCCCTCCTGATTTGGGGCT	0.488000														49			27		0	0	0.005443	0	0
FAT2	2196	broad.mit.edu	37	5	150922197	150922197	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:150922197G>A	uc003lue.4	-	8	8504	c.8491C>T	c.(8491-8493)Cag>Tag	p.Q2831*		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2831	Cadherin 25.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGCTCACCTGGCCATCTCTC	0.517000														28			19		0	0	0.001882	0	0
SCN10A	6336	broad.mit.edu	37	3	38798279	38798279	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38798279G>A	uc003ciq.3	-	8	1176	c.1176C>T	c.(1174-1176)atC>atT	p.I392I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	392					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTACAGCCAAGATCAAGTTGA	0.478000														69			19		0	0	0.007413	0	0
TRIM3	10612	broad.mit.edu	37	11	6472639	6472639	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:6472639G>A	uc001mdh.3	-	8	1959	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	TRIM3_uc001mdi.3_Silent_p.F521F|TRIM3_uc010raj.2_Silent_p.F402F|TRIM3_uc009yfd.3_Silent_p.F521F|TRIM3_uc010rak.1_Silent_p.F521F	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	521					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAAAACGGAACTTGAACT	0.582000														41			19		0	0	0.001882	0	0
RANGAP1	5905	broad.mit.edu	37	22	41660766	41660766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:41660766C>T	uc003azs.3	-	3	1852	c.382G>A	c.(382-384)Ggt>Agt	p.G128S	RANGAP1_uc003azt.3_Missense_Mutation_p.G128S|RANGAP1_uc003azu.3_Missense_Mutation_p.G128S|RANGAP1_uc011aoz.2_Missense_Mutation_p.G118S	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	128					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTTGCACACCGTCGGGCCCG	0.602000														35			9		0	0	0.004482	0	0
ESPL1	9700	broad.mit.edu	37	12	53663155	53663155	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:53663155G>A	uc001sck.2	+	2	520	c.429G>A	c.(427-429)gtG>gtA	p.V143V	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	143					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATGAGGCCGTGGCTCGGGGCA	0.622000														40			20		0	0	0.010504	0	0
MCHR2	84539	broad.mit.edu	37	6	100369011	100369011	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:100369011C>T	uc003pqh.1	-	5	1143	c.828G>A	c.(826-828)caG>caA	p.Q276Q	MCHR2_uc003pqi.1_Silent_p.Q276Q	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	276						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTGTTCCATCTGTAAGTTCA	0.473000														46			17		0	0	0.004990	0	0
CFHR5	81494	broad.mit.edu	37	1	196967416	196967416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:196967416C>T	uc001gts.4	+	6	1257	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	377	Sushi 6.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GAAATGGAATCCTGAAGTAGA	0.308000														11			6		0	0	0.004482	0	0
NOD1	10392	broad.mit.edu	37	7	30494798	30494798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:30494798G>A	uc003tav.3	-	4	854	c.331C>T	c.(331-333)Cct>Tct	p.P111S	NOD1_uc010kvs.2_Missense_Mutation_p.P111S	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	111					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGCAGGGAAGGGGAGAAGCCG	0.617000														39			13		0	0	0.002450	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918948	12918948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12918948G>A	uc001aum.1	+	1	171	c.84G>A	c.(82-84)atG>atA	p.M28I		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	28								p.M28K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTGCCATGGAGGAGCTGC	0.607000														63			33		0	0	0.002445	0	0
OR51E2	81285	broad.mit.edu	37	11	4703151	4703151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:4703151C>T	uc001lzk.2	-	1	1035	c.791G>A	c.(790-792)gGa>gAa	p.G264E	OR51E2_uc021qcr.1_Missense_Mutation_p.G264E	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGGCTGTTTCCAAAGCGGTG	0.517000														30			18		0	0	0.004990	0	0
ADCK2	90956	broad.mit.edu	37	7	140389516	140389516	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:140389516C>T	uc003vvy.1	+	5	1855	c.1677C>T	c.(1675-1677)acC>acT	p.T559T	ADCK2_uc003vvz.3_Silent_p.T559T	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	559	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ACACCATCACCCTGGAGAAGG	0.607000														17			7		0	0	0.001984	0	0
HTR2C	3358	broad.mit.edu	37	X	114141390	114141390	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:114141390C>T	uc004epu.1	+	5	1517	c.789C>T	c.(787-789)ttC>ttT	p.F263F	HTR2C_uc010nqc.1_Silent_p.F263F|HTR2C_uc004epv.1_Missense_Mutation_p.P232S	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	263					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GTCTGGATTTCCTGAAGTGCT	0.522000														22			40		0	0	0.006230	0	0
CSMD1	64478	broad.mit.edu	37	8	3200886	3200886	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:3200886G>A	uc022aqr.1	-	22	3951	c.3561C>T	c.(3559-3561)tcC>tcT	p.S1187S	CSMD1_uc011kwj.2_Silent_p.S580S|CSMD1_uc003wqe.3_Silent_p.S344S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1188	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGGTGATTGGATGTGCTGT	0.428000														29			15		0	0	0.003163	0	0
IGHG1	3500	broad.mit.edu	37	14	106208017	106208017	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106208017C>T	uc001yse.3	-	4	830	c.384G>A	c.(382-384)gtG>gtA	p.V128V	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		TCTCCCACTCCACGGCGATGT	0.612000														121			49		0	0	0.003610	0	0
C6orf170	221322	broad.mit.edu	37	6	121615761	121615761	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:121615761T>C	uc003pyo.1	-	10	1254	c.1186A>G	c.(1186-1188)Aag>Gag	p.K396E	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc003pyp.1_5'Flank	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	396					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TTCCTAGTCTTACACATTTCA	0.318000														92			31		0	0	0.003755	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														10			4		0	0	0.009096	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676174	54676174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:54676174G>A	uc003dhf.3	+	10	1121	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G264E|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.G92E|ESRG_uc003dhj.3_5'Flank	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	358	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACGGGACAAGGAAGTATCTGC	0.408000														15			8		0	0	0.004482	0	0
STARD13	90627	broad.mit.edu	37	13	33704280	33704280	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:33704280C>T	uc001uuw.3	-	4	660	c.534G>A	c.(532-534)agG>agA	p.R178R	STARD13_uc001uuu.3_Silent_p.R170R|STARD13_uc001uuv.3_Silent_p.R60R|STARD13_uc001uux.3_Silent_p.R143R|STARD13_uc010abh.1_Silent_p.R163R|STARD13_uc021rhz.1_Silent_p.R170R|STARD13_uc021ria.1_Silent_p.R60R	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	178					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGGTCGTGTTCCTCATCCCCG	0.607000														19			9		0	0	0.006214	0	0
COL11A2	1302	broad.mit.edu	37	6	33143458	33143458	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:33143458C>T	uc003ocx.1	-	30	2497	c.2269_splice	c.e30-1	p.G757_splice	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Splice_Site_p.G671_splice|COL11A2_uc003ocz.1_Splice_Site_p.G650_splice	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	757	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAACTTCGCCCTGTGTGAGA	0.652000														46			11		0	0	0.001368	0	0
OR2K2	26248	broad.mit.edu	37	9	114090048	114090048	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:114090048G>A	uc011lwp.2	-	0	666	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TCAGAATAGTGGAAAGGATGA	0.453000														17			7		0	0	0.003080	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993481	140993481	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:140993481G>A	uc004fbt.3	+	3	615	c.291G>A	c.(289-291)caG>caA	p.Q97Q	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	97							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGAATTCTCAGA	0.572000										HNSCC(15;0.026)				15			42		0	0	0.008740	0	0
DSCAM	1826	broad.mit.edu	37	21	41414529	41414529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:41414529C>T	uc002yyq.1	-	31	5907	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1819					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGCGTGTTCGTAGGCCCTG	0.527000														38			19		0	0	0.007413	0	0
ASTN2	23245	broad.mit.edu	37	9	119738420	119738420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:119738420C>T	uc004bjt.2	-	7	1672	c.1571G>A	c.(1570-1572)gGg>gAg	p.G524E	ASTN2_uc022bml.1_Missense_Mutation_p.G224E|ASTN2_uc022bmm.1_Missense_Mutation_p.G224E	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	575	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGCTTGCTCCCCTGTCACCAG	0.498000														44			15		0	0	0.010504	0	0
RP1L1	94137	broad.mit.edu	37	8	10467708	10467708	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:10467708C>T	uc003wtc.3	-	3	4129	c.3900G>A	c.(3898-3900)gaG>gaA	p.E1300E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1300					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTAATTGCACCTCTTCTTGCA	0.498000														50			17		0	0	0.007413	0	0
NWD1	284434	broad.mit.edu	37	19	16860798	16860798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16860798C>T	uc002neu.4	+	5	1767	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	NWD1_uc002net.4_Missense_Mutation_p.R314W|NWD1_uc002nev.4_Missense_Mutation_p.R243W|NWD1_uc021uqg.1_Missense_Mutation_p.R314W	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	449	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGCCATGCTCGGAGGGTTCC	0.597000														63			20		0	0	0.002299	0	0
DSG4	147409	broad.mit.edu	37	18	28970666	28970666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:28970666C>T	uc002kwr.2	+	5	700	c.565C>T	c.(565-567)Cat>Tat	p.H189Y	DSG4_uc002kwq.2_Missense_Mutation_p.H189Y	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	189	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGAAGAAAATCATCTGAATTC	0.408000														22			14		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9005617	9005617	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9005617G>A	uc002mkp.3	-	45	39993	c.39789C>T	c.(39787-39789)acC>acT	p.T13263T	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.T80T|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13265	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGCTGTGGGTCAGCTGGC	0.562000														84			34		0	0	0.003755	0	0
FLG2	388698	broad.mit.edu	37	1	152329303	152329303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152329303C>T	uc001ezw.4	-	2	1032	c.959G>A	c.(958-960)gGa>gAa	p.G320E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	320	Ser-rich.						calcium ion binding|structural molecule activity	p.S319*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTTAATTCCTGACTGACA	0.483000														64			28		0	0	0.005443	0	0
XIST	7503	broad.mit.edu	37	X	73053208	73053208	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:73053208T>A	uc004ebm.1	-	3		c.11437_splice	c.e3-1							Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCTCAGAATGTCCTTAAGAAG	0.418000														12			16		0	0	0.002299	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:71275418C>T	uc003hfi.3	+	2	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000														57			17		0	0	0.007413	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480243	140480243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140480243G>A	uc003lio.3	+	0	10	c.10G>A	c.(10-12)Gga>Aga	p.G4R	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGAGGCGGGAGGAGAGCG	0.522000														39			11		0	0	0.002450	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713205	138713205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:138713205G>A	uc004cgr.4	-	10	3302	c.3302C>T	c.(3301-3303)tCc>tTc	p.S1101F	CAMSAP1_uc004cgq.4_Missense_Mutation_p.S991F|CAMSAP1_uc010nbg.3_Missense_Mutation_p.S823F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1101						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGGCCTTCCGGAACGGGAATT	0.637000														43			14		0	0	0.001855	0	0
ADAM2	2515	broad.mit.edu	37	8	39691492	39691492	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:39691492C>T	uc003xnj.3	-	2	234	c.159G>A	c.(157-159)ggG>ggA	p.G53G	ADAM2_uc003xnk.3_Silent_p.G53G|ADAM2_uc011lck.2_Silent_p.G53G|ADAM2_uc003xnl.3_Silent_p.G53G	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	53					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G53V(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TATATGGTTTCCCTTCAATTA	0.289000														18			5		0	0	0.000602	0	0
BIN2	51411	broad.mit.edu	37	12	51695836	51695836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:51695836C>T	uc001ryg.3	-	4	428	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	BIN2_uc009zlz.3_Intron|BIN2_uc001ryh.3_Missense_Mutation_p.E2K|BIN2_uc010sng.2_Missense_Mutation_p.E100K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	126	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						ACATAGATTTCCATGGTCCTT	0.458000														19			8		0	0	0.008291	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217804	134217804	+	Missense_Mutation	SNP	G	A	A	rs148486050		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:134217804G>A	uc003vrr.3	+	3	720	c.400G>A	c.(400-402)Gga>Aga	p.G134R		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	134					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.G134R(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGCCATCGGTGGAAAAGCAAC	0.453000														76			34		0	0	0.006999	0	0
MEP1A	4224	broad.mit.edu	37	6	46787402	46787402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:46787402G>A	uc011dwh.1	+	5	609	c.601G>A	c.(601-603)Gat>Aat	p.D201N	MEP1A_uc010jzh.1_Missense_Mutation_p.D173N|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.D73N	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	173	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GACGGACCGGGATGATTATGT	0.473000														154			43		0	0	0.003610	0	0
INPP5D	3635	broad.mit.edu	37	2	233944049	233944049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:233944049C>T	uc010zmo.2	+	1	292	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	INPP5D_uc010zmp.2_Missense_Mutation_p.R47W	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	47	SH2.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTTCAGGTATCGGAATTGCGT	0.398000														14			7		0	0	0.003080	0	0
FGD3	89846	broad.mit.edu	37	9	95780429	95780429	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:95780429C>T	uc004asz.2	+	10	1815	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	FGD3_uc004asw.2_Silent_p.I429I|FGD3_uc004asx.2_Silent_p.I429I|FGD3_uc004ata.3_Silent_p.I232I|FGD3_uc011luc.1_Silent_p.I32I	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	429	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGCAGGATATCGTCAAGCCAA	0.463000														51			16		0	0	0.001882	0	0
CENPE	1062	broad.mit.edu	37	4	104079922	104079922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:104079922C>T	uc003hxb.1	-	22	2813	c.2723G>A	c.(2722-2724)aGg>aAg	p.R908K	CENPE_uc003hxc.1_Missense_Mutation_p.R883K	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	908					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTTCTCCCTTTCTACAGT	0.358000														18			9		0	0	0.006214	0	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:3241350C>T	uc004crg.4	-	4	2533	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	792						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGATTTTTCCCACGGACTT	0.453000														16			30		0	0	0.009535	0	0
ABCC6	368	broad.mit.edu	37	16	16267236	16267237	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:16267236_16267237CC>TT	uc002den.4	-	20	2728_2729	c.2691_2692GG>AA	c.(2689-2694)aaggac>aaAAac	p.D898N	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	898					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GTGGTACGGTCCTTCTCAGGGA	0.535000														45			9		0	0	0.004672	0	0
APBB2	323	broad.mit.edu	37	4	40936483	40936484	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:40936483_40936484GG>AA	uc003gvn.3	-	9	1873_1874	c.1243_1244CC>TT	c.(1243-1245)cca>TTa	p.P415L	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Missense_Mutation_p.P414L|APBB2_uc003gvm.3_Missense_Mutation_p.P393L|APBB2_uc011byt.1_Missense_Mutation_p.P376L	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	414	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.P415P(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTTGGCTTCTGGGTCACTGTTG	0.381000														79			25		0	0	0.004672	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528560	65528560	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:65528560G>A	uc003xvj.2	-	2	742	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	180					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATGGATACAGTTCTGCCGTG	0.353000														24			14		0	0	0.003163	0	0
NPAS1	4861	broad.mit.edu	37	19	47548651	47548651	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:47548651G>A	uc002pfw.3	+	11	1711	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q	NPAS1_uc002pfy.3_Silent_p.Q505Q|NPAS1_uc010xyj.2_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	505					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TCCTGAAGCAGGATCCGGTGC	0.731000														21			7		0	0	0.003080	0	0
OR4K13	390433	broad.mit.edu	37	14	20502263	20502263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20502263C>T	uc010tkz.2	-	0	655	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATTATGACTCCATAGGAGACA	0.493000														34			18		0	0	0.001882	0	0
BZW1	9689	broad.mit.edu	37	2	201681923	201681923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:201681923C>T	uc010zhg.2	+	5	668	c.593C>T	c.(592-594)tCc>tTc	p.S198F	BZW1_uc002uwc.3_Missense_Mutation_p.S166F|BZW1_uc021vus.1_Missense_Mutation_p.S170F	NM_001207068	NP_001193997	Q7L1Q6	BZW1_HUMAN	Homo sapiens basic leucine zipper and W2 domains 1 (BZW1), transcript variant 2, mRNA.	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTTAATGCATCCATTCTTAAT	0.413000														43			14		0	0	0.002450	0	0
ABCA12	26154	broad.mit.edu	37	2	215884434	215884434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:215884434C>T	uc002vew.3	-	11	1594	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	ABCA12_uc002vev.3_Missense_Mutation_p.M140I|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	458					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCCAAAGCTCATATCAGAGA	0.463000														17			9		0	0	0.004482	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504398	151504398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:151504398G>A	uc003ilw.3	+	0	1322	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	73					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TTCGCCCACCGAATTTGAGGT	0.607000														22			11		0	0	0.000978	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665287	6665287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:6665287C>T	uc002mfk.2	-	4	755	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	TNFSF14_uc002mfj.2_Missense_Mutation_p.G89S	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	125					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TAGCTGAGGCCCCTCAGGAAG	0.642000														18			8		0	0	0.003080	0	0
AK057473	0	broad.mit.edu	37	17	20805643	20805643	+	RNA	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:20805643G>A	uc002gyg.1	+	3		c.827G>A			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		AGACGACGACGAAGTCTCCCA	0.557000														31			12		0	0	0.001855	0	0
CACNA1S	779	broad.mit.edu	37	1	201047112	201047112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:201047112C>T	uc001gvv.3	-	10	1741	c.1514G>A	c.(1513-1515)tGt>tAt	p.C505Y		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	505					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GATACCGCTACACACCACGAA	0.577000														36			25		0	0	0.005443	0	0
THSD7B	80731	broad.mit.edu	37	2	138400061	138400061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:138400061G>A	uc002tva.1	+	19	3713	c.3713G>A	c.(3712-3714)cGa>cAa	p.R1238Q	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTAGGTCGAATGAGCCGG	0.478000														70			25		0	0	0.003954	0	0
FLT1	2321	broad.mit.edu	37	13	28877373	28877373	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:28877373C>T	uc001usb.3	-	29	4233	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	FLT1_uc010aap.2_Silent_p.R321R|FLT1_uc010aaq.2_Silent_p.R441R|FLT1_uc001usa.3_Silent_p.R534R	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1316					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACGCGATTTTCCTTTCCAGCT	0.572000														35			21		0	0	0.002299	0	0
CRB2	286204	broad.mit.edu	37	9	126128238	126128238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:126128238C>T	uc004bnx.1	+	2	553	c.461C>T	c.(460-462)cCc>cTc	p.P154L	CRB2_uc004bnw.1_Missense_Mutation_p.P154L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	154	EGF-like 3; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCCTCAGCGCCCTGCCTGCAC	0.701000														26			8		0	0	0.006214	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034960	107034960	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:107034960G>A	uc001ysz.3	-	1	149	c.120C>T	c.(118-120)tcC>tcT	p.S40S	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		AACCCTTACAGGAGATCTTCA	0.562000														10			6		0	0	0.001168	0	0
PIEZO2	63895	broad.mit.edu	37	18	10675266	10675266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:10675266G>A	uc002kos.2	-	49	7936	c.7762C>T	c.(7762-7764)Cca>Tca	p.P2588S	PIEZO2_uc002koq.3_Missense_Mutation_p.P380S	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2588						integral to membrane	ion channel activity										ACATAATATGGATAAATCTTT	0.274000														40			22		0	0	0.003330	0	0
AMN	81693	broad.mit.edu	37	14	103395162	103395162	+	Silent	SNP	G	A	A	rs141455061	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:103395162G>A	uc001ymg.4	+	4	396	c.363G>A	c.(361-363)ggG>ggA	p.G121G	AMN_uc001ymh.4_Silent_p.G67G	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	Homo sapiens amnionless homolog (mouse) (AMN), mRNA.	121					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCGCTCTGGGGACGAGGCAC	0.677000														22			8		0	0	0.004482	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734794	16734794	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:16734794G>A	uc010vwr.1	-	2	781	c.339C>T	c.(337-339)gcC>gcT	p.A113A						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		GGTCAGTCCTGGCCAGGGTCA	0.622000														23			3		0	0	0.004672	0	0
PCSK5	5125	broad.mit.edu	37	9	78947362	78947362	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:78947362G>A	uc004akc.2	+	32	5041	c.4503G>A	c.(4501-4503)gtG>gtA	p.V1501V		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	671					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CAACCTGTGTGAAGGACTGCC	0.527000														32			9		0	0	0.006214	0	0
FRMPD2	143162	broad.mit.edu	37	10	49400783	49400783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:49400783C>T	uc001jgi.3	-	15	2440	c.2109G>A	c.(2107-2109)atG>atA	p.M703I	FRMPD2_uc001jgh.3_Missense_Mutation_p.M671I|FRMPD2_uc001jgj.3_Missense_Mutation_p.M672I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	703					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGAAGTTATCCATTGATGTAC	0.527000														40			13		0	0	0.002450	0	0
LILRP2	79166	broad.mit.edu	37	19	55221631	55221631	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:55221631C>T	uc002qgs.1	+	0		c.2031C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GCATCCTGATCGCAGGTGAGG	0.677000														23			11		0	0	0.000978	0	0
USH2A	7399	broad.mit.edu	37	1	215847677	215847677	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:215847677G>A	uc001hku.1	-	62	13963	c.13576C>T	c.(13576-13578)Cga>Tga	p.R4526*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4526	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D4525H(1)		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)		GGGCTGGTTCGATCTTTGACA	0.517000										HNSCC(13;0.011)				59			26		0	0	0.004656	0	0
SCN10A	6336	broad.mit.edu	37	3	38798227	38798227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38798227C>T	uc003ciq.3	-	8	1228	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	410					sensory perception	voltage-gated sodium channel complex		p.E410Q(2)|p.D409Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTTCAATTTCATCAGTGGTT	0.498000														64			36		0	0	0.003271	0	0
ATG9B	285973	broad.mit.edu	37	7	150718281	150718281	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:150718281G>A	uc011kvc.2	-	4	1033	c.957C>T	c.(955-957)atC>atT	p.I319I	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	319					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCACCGGGGGGATGTGCAGGG	0.617000														62			25		0	0	0.007291	0	0
DNAH5	1767	broad.mit.edu	37	5	13839615	13839615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:13839615G>A	uc003jfd.2	-	34	5774	c.5732C>T	c.(5731-5733)cCc>cTc	p.P1911L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1911	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGTCCATGGGACTCTTGAT	0.358000									Kartagener syndrome					28			17		0	0	0.006122	0	0
OR4X2	119764	broad.mit.edu	37	11	48267098	48267098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:48267098C>T	uc001ngs.1	+	0	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTCATGCATTCCTTTGCACAA	0.498000														75			33		0	0	0.003271	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790170	133790170	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:133790170G>A	uc001qgx.4	-	17	3681	c.3450C>T	c.(3448-3450)ccC>ccT	p.P1150P		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1150	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAGCCGGCTCGGGGTAAGGCA	0.687000														48			24		0	0	0.003954	0	0
PARD3	56288	broad.mit.edu	37	10	34759085	34759085	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:34759085G>A	uc010qej.2	-	3	840	c.510C>T	c.(508-510)ccC>ccT	p.P170P	PARD3_uc010qep.2_Silent_p.P170P|PARD3_uc010qeq.2_Silent_p.P170P|PARD3_uc010qek.2_Silent_p.P170P|PARD3_uc010qel.2_Silent_p.P170P|PARD3_uc010qem.2_Silent_p.P170P|PARD3_uc010qen.2_Silent_p.P170P|PARD3_uc010qeo.2_Silent_p.P170P|PARD3_uc001ixr.2_Silent_p.P170P|PARD3_uc001ixq.2_Silent_p.P170P|PARD3_uc001ixp.2_Silent_p.P170P|PARD3_uc001ixt.1_Silent_p.P35P|PARD3_uc001ixu.2_Silent_p.P170P	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	170					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACCAGCGTGTGGGATTTTTCC	0.493000														44			29		0	0	0.006320	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159781847	159781847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:159781847C>T	uc003lyd.3	-	1	311	c.307G>A	c.(307-309)Gga>Aga	p.G103R		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	58	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCATTCGTCCCATCATTCCT	0.662000														10			6		0	0	0.001168	0	0
ZNF214	7761	broad.mit.edu	37	11	7021860	7021860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:7021860G>A	uc009yfh.1	-	2	1353	c.1054C>T	c.(1054-1056)Cac>Tac	p.H352Y	ZNF214_uc001mfa.2_Missense_Mutation_p.H352Y|ZNF214_uc010ray.1_Missense_Mutation_p.H352Y	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCCTATGTGAAGTCTCTGG	0.368000														33			6		0	0	0.001168	0	0
TNXB	7148	broad.mit.edu	37	6	32037995	32037995	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32037995G>A	uc003nzl.2	-	13	5389	c.5187C>T	c.(5185-5187)acC>acT	p.T1729T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1811	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CATCCAGAGGGGTGACAGTGA	0.632000														129			44		0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196706689	196706689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:196706689G>A	uc001gtj.4	+	16	2921	c.2681G>A	c.(2680-2682)gGg>gAg	p.G894E	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	894	Sushi 15.				complement activation, alternative pathway	extracellular space		p.G894G(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATGCACATGGGACTAAATTG	0.378000														20			9		0	0	0.006214	0	0
MAP3K5	4217	broad.mit.edu	37	6	136888793	136888793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:136888793C>T	uc003qhc.3	-	25	4098	c.3737G>A	c.(3736-3738)gGa>gAa	p.G1246E	MAP3K5_uc011edj.2_Missense_Mutation_p.G493E|MAP3K5_uc011edk.1_Missense_Mutation_p.G1092E	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1246					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTCATCCTTCCAAGCTGTAC	0.438000														17			5		0	0	0.001168	0	0
MON1A	84315	broad.mit.edu	37	3	49947860	49947860	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:49947860G>A	uc003cxz.3	-	3	1488	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	MON1A_uc003cya.3_Silent_p.S292S|MON1A_uc003cyb.2_Silent_p.S292S	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	357							protein binding	p.S454N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTCGCGAAAGGACGAGGAGG	0.602000														19			15		0	0	0.004007	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620131	77620131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:77620131G>A	uc003yau.2	+	2	3328	c.2941G>A	c.(2941-2943)Ggc>Agc	p.G981S	ZFHX4_uc003yat.1_Missense_Mutation_p.G955S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G955S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	955						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G980V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAAAGAAGGGGGCAAAAGCAA	0.428000										HNSCC(33;0.089)				49			11		0	0	0.001368	0	0
FRAS1	80144	broad.mit.edu	37	4	79373339	79373339	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:79373339C>T	uc003hlb.2	+	46	7034	c.6594C>T	c.(6592-6594)tcC>tcT	p.S2198S		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2197					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGACAAATCCCCACCAGTCA	0.458000														36			9		0	0	0.006214	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481080	140481080	+	Missense_Mutation	SNP	C	T	T	rs17844390		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140481080C>T	uc003lio.3	+	0	847	c.847C>T	c.(847-849)Cat>Tat	p.H283Y	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	283	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCATTTTTTCATGCTTCTGA	0.358000														31			8		0	0	0.006214	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16941845	16941845	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrY:16941845C>T	uc011nas.1	+	5	1286	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	NLGN4Y_uc004fte.2_Silent_p.I181I|NLGN4Y_uc004ftg.2_Silent_p.I349I|NLGN4Y_uc004ftf.2_Silent_p.I42I|NLGN4Y_uc004fth.2_Silent_p.I349I	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	349					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						GCGACGTCATCCCAGACGACC	0.572000														8			15		0	0	0.002780	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68812211	68812211	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:68812211C>T	uc003hdr.1	-	1	211	c.90G>A	c.(88-90)gtG>gtA	p.V30V	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Silent_p.V30V	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	30					cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCACTGCCACCACTGTCAGGG	0.438000														18			12		0	0	0.000978	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143809	61143809	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:61143809C>T	uc021wfy.1	-	0		c.74G>A			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		GTGGTGAACTCCCCTCGTGCG	0.667000														84			23		0	0	0.002299	0	0
ENPP1	5167	broad.mit.edu	37	6	132189168	132189168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:132189168C>T	uc011ecf.2	+	11	1195	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	ENPP1_uc003qcy.3_Missense_Mutation_p.A22V	NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	392	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GTCATCAAAGCCTTGCAGAGG	0.393000														60			22		0	0	0.005443	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679916	3679916	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:3679916G>A	uc002wja.3	-	6	1719	c.1719C>T	c.(1717-1719)taC>taT	p.Y573Y	SIGLEC1_uc002wiz.4_Silent_p.Y573Y	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	573	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Y573F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCGGCAGTGGTATGAGCCGG	0.677000														10			8		0	0	0.004482	0	0
ACSM1	116285	broad.mit.edu	37	16	20673121	20673121	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:20673121G>A	uc002dhm.1	-	5	1055	c.987C>T	c.(985-987)ttC>ttT	p.F329F	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.F329F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	329					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CATACCTGGTGAAATCCTGCT	0.388000														21			8		0	0	0.008291	0	0
ATN1	1822	broad.mit.edu	37	12	7047862	7047862	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:7047862C>T	uc001qrw.1	+	6	2973	c.2736C>T	c.(2734-2736)gaC>gaT	p.D912D	ATN1_uc001qrx.1_Silent_p.D912D	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	912					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GGGCAGTGGACCCGGGGCTCC	0.627000														86			30		0	0	0.007291	0	0
CXorf22	170063	broad.mit.edu	37	X	35988949	35988949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:35988949G>A	uc004ddj.3	+	10	1945	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	627										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TACTACATTTGAAAAACAGCA	0.289000														2			4		0	0	0.009096	0	0
SSPO	23145	broad.mit.edu	37	7	149497078	149497078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:149497078C>T	uc010lpk.3	+	47	7109	c.7109C>T	c.(7108-7110)cCa>cTa	p.P2370L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2373					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGTGACTCCAGCGACCCCT	0.617000														34			10		0	0	0.000978	0	0
FLNC	2318	broad.mit.edu	37	7	128484134	128484134	+	Silent	SNP	G	A	A	rs61737781	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:128484134G>A	uc003vnz.4	+	19	3215	c.3006G>A	c.(3004-3006)cgG>cgA	p.R1002R	FLNC_uc003voa.4_Silent_p.R1002R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1002					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGGATGTGCGGATGACTTCGC	0.662000														22			12		0	0	0.000978	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377503	61377503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:61377503G>A	uc002ljk.4	+	1	247	c.76G>A	c.(76-78)Gat>Aat	p.D26N	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Missense_Mutation_p.D26N	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	26					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAACATAGGAGATAACATCTT	0.448000														18			6		0	0	0.001984	0	0
BARX2	8538	broad.mit.edu	37	11	129306737	129306737	+	Silent	SNP	C	T	T	rs149011396	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:129306737C>T	uc001qfc.4	+	1	329	c.279C>T	c.(277-279)atC>atT	p.I93I		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	93										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCCGGGAATCGCCCAGGCAC	0.677000														53			22		0	0	0.002780	0	0
NLRP8	126205	broad.mit.edu	37	19	56466362	56466362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:56466362C>T	uc002qmh.3	+	2	1009	c.938C>T	c.(937-939)tCt>tTt	p.S313F	NLRP8_uc010etg.3_Missense_Mutation_p.S313F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	313	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGCCTGGGTCTGTCCTACTG	0.507000														59			13		0	0	0.001855	0	0
LY9	4063	broad.mit.edu	37	1	160788098	160788098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:160788098G>A	uc001fwu.3	+	5	1483	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	LY9_uc001fwv.3_Missense_Mutation_p.R478Q|LY9_uc001fww.3_Missense_Mutation_p.R388Q|LY9_uc001fwy.1_Missense_Mutation_p.R290Q|LY9_uc001fwz.3_Missense_Mutation_p.R130Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	478					cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.R478*(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATTTGGAAGCGAAAAGGACGG	0.522000														30			11		0	0	0.000978	0	0
MORC1	27136	broad.mit.edu	37	3	108780899	108780899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:108780899G>A	uc003dxl.3	-	10	989	c.902C>T	c.(901-903)tCc>tTc	p.S301F	MORC1_uc011bhn.2_Missense_Mutation_p.S301F	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	301					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E300*(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCAATATGGATTCAGCTGG	0.343000														30			17		0	0	0.004007	0	0
SDPR	8436	broad.mit.edu	37	2	192701092	192701092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:192701092G>A	uc002utb.3	-	1	1190	c.835C>T	c.(835-837)Cac>Tac	p.H279Y		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	279						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATTTTCTGGTGATTTGACGTG	0.448000														99			40		0	0	0.009718	0	0
ABCC12	94160	broad.mit.edu	37	16	48175116	48175116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:48175116C>T	uc002efc.1	-	2	770	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	ABCC12_uc002eey.1_Splice_Site|ABCC12_uc002eez.1_Splice_Site|ABCC12_uc002efa.1_Splice_Site|ABCC12_uc002efb.1_Splice_Site|ABCC12_uc002efd.1_Splice_Site|ABCC12_uc002efe.1_Splice_Site_p.P141_splice|ABCC12_uc010vgj.1_Splice_Site	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	142	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCCGCACTCACCGGCCCTATG	0.547000														18			8		0	0	0.004482	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043697	26043697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:26043697C>T	uc003nfu.3	-	0	189	c.189G>A	c.(187-189)atG>atA	p.M63I	HIST1H3C_uc003nfv.3_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	Homo sapiens histone cluster 1, H2bb (HIST1H2BB), mRNA.	63					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CGAAGGAATTCATGATCCCCA	0.552000														130			33		0	0	0.002836	0	0
SPAM1	6677	broad.mit.edu	37	7	123593715	123593715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:123593715C>T	uc003vle.3	+	2	530	c.91C>T	c.(91-93)Cca>Tca	p.P31S	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P31S|SPAM1_uc022aks.1_Missense_Mutation_p.P31S|SPAM1_uc003vlf.4_Missense_Mutation_p.P31S|SPAM1_uc010lku.3_Missense_Mutation_p.P31S	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	31					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CCTTCTGATTCCATGTTGCTT	0.403000														18			9		0	0	0.006214	0	0
KL	9365	broad.mit.edu	37	13	33629241	33629241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:33629241G>A	uc001uus.3	+	2	1396	c.1388G>A	c.(1387-1389)gGt>gAt	p.G463D	KL_uc001uur.1_Missense_Mutation_p.G156D	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	463	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTCATGGATGGTTTCGAGTGG	0.517000														70			26		0	0	0.003954	0	0
ZNF230	7773	broad.mit.edu	37	19	44514741	44514741	+	Missense_Mutation	SNP	C	T	T	rs112504832	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:44514741C>T	uc002oyb.1	+	4	801	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTCAGCTCTTCGTATTCACCA	0.448000														44			20		0	0	0.010504	0	0
KRT17	3872	broad.mit.edu	37	17	39776928	39776928	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:39776928C>T	uc002hxh.2	-	5	1285	c.1164G>A	c.(1162-1164)ctG>ctA	p.L388L	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	388	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCTCTCCCTCCAGCAGGCGGC	0.612000														39			11		0	0	0.001368	0	0
CCL8	6355	broad.mit.edu	37	17	32647872	32647872	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:32647872G>A	uc002hib.3	+	2	701	c.246G>A	c.(244-246)tgG>tgA	p.W82*		NM_005623	NP_005614	P80075	CCL8_HUMAN	Homo sapiens chemokine (C-C motif) ligand 8 (CCL8), mRNA.	82					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				AGGAGAGATGGGTCAGGGATT	0.478000														25			6		0	0	0.003080	0	0
C19orf75	284369	broad.mit.edu	37	19	51770669	51770669	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:51770669G>A	uc002pwb.1	+	4	834	c.453G>A	c.(451-453)gcG>gcA	p.A151A	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Silent_p.A57A	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	151						integral to membrane		p.A151V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						AAGCTGCAGCGATCAGAGCAA	0.468000														52			29		0	0	0.006320	0	0
BCMO1	53630	broad.mit.edu	37	16	81303970	81303970	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:81303970C>T	uc002fgn.1	+	6	1268	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	BCMO1_uc010vnp.1_Silent_p.L281L	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	350					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACTCCAGGCTCACCTCGGTCC	0.562000														27			18		0	0	0.008871	0	0
PTPRB	5787	broad.mit.edu	37	12	71003006	71003006	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:71003006G>A	uc001swb.4	-	1	198	c.168C>T	c.(166-168)ctC>ctT	p.L56L	PTPRB_uc010sto.2_Silent_p.L56L|PTPRB_uc010stp.2_Silent_p.L56L|PTPRB_uc001swc.4_Silent_p.L274L|PTPRB_uc001swa.4_Silent_p.L274L|PTPRB_uc001swd.4_Silent_p.L273L|PTPRB_uc009zrr.2_Silent_p.L153L|PTPRB_uc001swe.3_Silent_p.L274L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	56	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCTATAGATGAGGCTAAAGT	0.512000														37			12		0	0	0.000978	0	0
GLI2	2736	broad.mit.edu	37	2	121685022	121685022	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:121685022T>A	uc010flp.3	+	1	264	c.234T>A	c.(232-234)caT>caA	p.H78Q	GLI2_uc010yyu.1_Missense_Mutation_p.H78Q|GLI2_uc002tmp.1_Missense_Mutation_p.H78Q|GLI2_uc010fln.1_Non-coding_Transcript|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.H78Q|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Missense_Mutation_p.H78Q	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	78					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACGAGCCTCATTCTGTCCACG	0.622000														74			28		0	0	0.007291	0	0
RYR3	6263	broad.mit.edu	37	15	34040321	34040321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:34040321G>A	uc001zhi.3	+	53	8066	c.7996G>A	c.(7996-7998)Gaa>Aaa	p.E2666K	RYR3_uc010bar.3_Missense_Mutation_p.E2666K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2666	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTAGGAGAAGGAAATTTATCG	0.547000														20			27		0	0	0.008361	0	0
SCN2A	6326	broad.mit.edu	37	2	166245738	166245738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:166245738G>A	uc002udc.3	+	26	5712	c.5422G>A	c.(5422-5424)Gat>Aat	p.D1808N	SCN2A_uc002udd.3_Missense_Mutation_p.D1808N|SCN2A_uc002ude.3_Missense_Mutation_p.D1808N|SCN2A_uc021vry.1_Missense_Mutation_p.D308N	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1808					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTTTGATCCCGATGCGACCCA	0.458000														48			25		0	0	0.004656	0	0
BICD2	23299	broad.mit.edu	37	9	95480098	95480098	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:95480098G>C	uc004asp.1	-	5	2296	c.2239C>G	c.(2239-2241)Cgt>Ggt	p.R747G	BICD2_uc004aso.1_Missense_Mutation_p.R747G	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	747	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AACATAGCACGCAGCGAGGAG	0.577000														19			9		0	0	0.004482	0	0
GIMAP4	55303	broad.mit.edu	37	7	150270001	150270001	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:150270001G>A	uc003whl.3	+	2	925	c.843G>A	c.(841-843)aaG>aaA	p.K281K	GIMAP4_uc011kuu.2_Silent_p.K142K|GIMAP4_uc011kuv.2_Silent_p.K295K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	281							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAATGGAGAAGAAACTAGCAG	0.443000														21			5		0	0	0.000602	0	0
DISP1	84976	broad.mit.edu	37	1	223177379	223177379	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:223177379C>T	uc001hnu.2	+	9	2966	c.2640C>T	c.(2638-2640)ccC>ccT	p.P880P		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	880					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGAGCTTCCCCTACAAGCAAG	0.502000														291			118		0	0	0.003610	0	0
PAK3	5063	broad.mit.edu	37	X	110391071	110391071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:110391071C>T	uc010npv.1	+	4	518	c.491C>T	c.(490-492)tCc>tTc	p.S164F	PAK3_uc010npt.1_Missense_Mutation_p.S128F|PAK3_uc010npu.1_Missense_Mutation_p.S128F|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.S128F|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.S149F|PAK3_uc004epa.2_Missense_Mutation_p.S143F	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	143	Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTCTATGATTCCAAAGAAACA	0.378000										TSP Lung(19;0.15)				6			13		0	0	0.001368	0	0
C2CD2	25966	broad.mit.edu	37	21	43338965	43338965	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:43338965C>T	uc002yzw.3	-	4	839	c.597_splice	c.e4+1	p.E199_splice	C2CD2_uc002yzu.3_Splice_Site_p.E31_splice|C2CD2_uc002yzv.3_Splice_Site_p.E44_splice|C2CD2_uc002yzx.1_Splice_Site_p.E44_splice	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	199						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACGGACTGACCTCCCCCAGTG	0.517000														29			17		0	0	0.007413	0	0
CCDC87	55231	broad.mit.edu	37	11	66359889	66359889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:66359889G>A	uc001oiq.4	-	0	666	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	200										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GTCCCAGCGGGGCAGACAGGG	0.607000														25			9		0	0	0.008291	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334064	39334064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:39334064G>A	uc002hwd.3	-	0	397	c.353C>T	c.(352-354)cCc>cTc	p.P118L		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA.	118	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCAGCTGGGGCGGTAGCA	0.612000														60			63		0	0	0.003610	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513233	106513233	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:106513233T>C	uc003vdv.4	+	3	2222	c.2137T>C	c.(2137-2139)Ttc>Ctc	p.F713L	PIK3CG_uc003vdu.3_Missense_Mutation_p.F713L|PIK3CG_uc003vdw.3_Missense_Mutation_p.F713L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	713					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCAGCAGAGGTTCGCTGTGAT	0.458000														51			18		0	0	0.008871	0	0
ARFIP2	23647	broad.mit.edu	37	11	6500164	6500164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:6500164C>T	uc001mdk.3	-	4	592	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	ARFIP2_uc010ran.2_Missense_Mutation_p.R147Q|ARFIP2_uc010ral.2_Missense_Mutation_p.R76Q|ARFIP2_uc010ram.2_Missense_Mutation_p.R29Q|FXC1_uc001mdn.4_5'Flank|FXC1_uc001mdo.4_5'Flank	NM_012402	NP_001229784	P53365	ARFP2_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 2, mRNA.	114					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGACCAAATCGTTCTGATAA	0.537000														16			6		0	0	0.001984	0	0
SLC17A5	26503	broad.mit.edu	37	6	74325154	74325154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:74325154G>A	uc003phn.4	-	7	1123	c.995C>T	c.(994-996)tCa>tTa	p.S332L	SLC17A5_uc010kax.3_5'UTR|SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Missense_Mutation_p.S201L	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	332					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAAGGCAATGAAGATAAAAA	0.368000														24			8		0	0	0.004482	0	0
C15orf59	388135	broad.mit.edu	37	15	74032662	74032662	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:74032662A>T	uc002avy.3	-	1	823	c.478T>A	c.(478-480)Tcc>Acc	p.S160T		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA.	160										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCCTCACTGGAGGAGTCTGGG	0.662000														32			19		0	0	0.006122	0	0
ADCY1	107	broad.mit.edu	37	7	45726197	45726197	+	Silent	SNP	C	T	T	rs148089389	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:45726197C>T	uc003tne.4	+	13	2397	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	793					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCATCCTGCTCTTCTCCTGTG	0.627000														39			16		0	0	0.006122	0	0
DPP10	57628	broad.mit.edu	37	2	116447288	116447288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:116447288C>T	uc002tle.3	+	5	500	c.479C>T	c.(478-480)tCa>tTa	p.S160L	DPP10_uc002tla.2_Missense_Mutation_p.S156L|DPP10_uc002tlb.2_Missense_Mutation_p.S106L|DPP10_uc002tlc.2_Missense_Mutation_p.S152L|DPP10_uc002tlf.2_Missense_Mutation_p.S149L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	156					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TATACTGCTTCATATGTGATT	0.259000														3			9		0	0	0.006214	0	0
LRRC18	474354	broad.mit.edu	37	10	50121466	50121466	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:50121466G>A	uc001jhd.3	-	0	815	c.735C>T	c.(733-735)tcC>tcT	p.S245S	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.S245S	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	245						cytoplasm		p.S245S(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCTTGGCCATGGAATTGGGTG	0.537000														76			41		0	0	0.006230	0	0
COL15A1	1306	broad.mit.edu	37	9	101829170	101829170	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:101829170T>C	uc004azb.1	+	39	3864	c.3658T>C	c.(3658-3660)Ttg>Ctg	p.L1220L		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1220	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCAGCTGCATTTGGCTGCTCT	0.483000														32			15		0	0	0.003163	0	0
C9orf78	51759	broad.mit.edu	37	9	132593232	132593232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:132593232G>A	uc004byp.3	-	5	532	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	C9orf78_uc004byo.3_Missense_Mutation_p.R79C|C9orf78_uc004byq.1_Missense_Mutation_p.R100C	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	Homo sapiens chromosome 9 open reading frame 78 (C9orf78), mRNA.	154										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				GAGGAAACACGGATGTTTTCT	0.473000														15			10		0	0	0.006214	0	0
CDC40	51362	broad.mit.edu	37	6	110514406	110514406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:110514406C>T	uc003pua.3	+	1	272	c.211C>T	c.(211-213)Cac>Tac	p.H71Y		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	71					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GACTGGAGTTCACCTTGACCC	0.348000														37			10		0	0	0.008291	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760883	186760883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:186760883C>T	uc003frb.3	+	3	1025	c.392C>T	c.(391-393)cCa>cTa	p.P131L	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Missense_Mutation_p.P131L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	131					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGGCCAGGACCAGGCATCAAG	0.488000														26			11		0	0	0.008291	0	0
KLRB1	3820	broad.mit.edu	37	12	9760381	9760381	+	Missense_Mutation	SNP	C	T	T	rs144231382	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:9760381C>T	uc010sgt.2	-	0	117	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_002258	NP_002249	Q12918	KLRB1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily B, member 1 (KLRB1), mRNA.	19					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						GAAGAACTTTCTGGGCCTGAG	0.413000														45			19		0	0	0.001882	0	0
FGF23	8074	broad.mit.edu	37	12	4479772	4479772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:4479772G>A	uc001qmq.1	-	2	639	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	165					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGAATTAGGGGGATCTCGTTC	0.657000														49			16		0	0	0.007413	0	0
TAGAP	117289	broad.mit.edu	37	6	159462504	159462504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:159462504C>T	uc003qrz.3	-	5	691	c.359G>A	c.(358-360)gGg>gAg	p.G120E	TAGAP_uc011eft.2_Missense_Mutation_p.G57E|TAGAP_uc003qsa.3_5'UTR|TAGAP_uc003qsb.3_Missense_Mutation_p.G120E	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	120	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.E119A(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCTGAATATCCCTTCCGTTGA	0.502000														35			8		0	0	0.003080	0	0
POPDC2	64091	broad.mit.edu	37	3	119367478	119367478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:119367478G>A	uc003ecx.1	-	2	772	c.638C>T	c.(637-639)tCc>tTc	p.S213F	POPDC2_uc010hqw.1_Missense_Mutation_p.S213F|POPDC2_uc003ecy.1_Missense_Mutation_p.S31F	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	213						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCGGGGCCAGGAAATGTAGCT	0.473000														37			15		0	0	0.010504	0	0
ZNF207	7756	broad.mit.edu	37	17	30694883	30694883	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:30694883C>T	uc010csz.3	+	10	1370	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	ZNF207_uc002hhj.4_Silent_p.F338F|ZNF207_uc002hhh.4_Silent_p.F322F|ZNF207_uc002hhi.4_Silent_p.F307F|ZNF207_uc002hhk.1_Silent_p.F338F|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCCTACATTCCCTGCTTATA	0.438000														31			25		0	0	0.003330	0	0
CRNKL1	51340	broad.mit.edu	37	20	20031172	20031172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:20031172G>A	uc002wrs.3	-	2	661	c.629C>T	c.(628-630)cCt>cTt	p.P210L	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.P198L	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	210	Poly-Pro.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CTTCTGTTGAGGTGGAGGTGG	0.393000														16			11		0	0	0.008291	0	0
KLRK1	22914	broad.mit.edu	37	12	10532306	10532306	+	Silent	SNP	G	A	A	rs148179014		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:10532306G>A	uc009zhj.3	-	3	411	c.234C>T	c.(232-234)ttC>ttT	p.F78F	AK096314_uc001qya.1_Non-coding_Transcript|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Silent_p.F78F|KLRK1_uc009zhk.3_Silent_p.F78F|KLRK1_uc001qyd.3_Silent_p.F78F	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	78					T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TACAGTTTAGGAATACAGCAC	0.328000														35			4		0	0	0.009096	0	0
SULF1	23213	broad.mit.edu	37	8	70515487	70515487	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:70515487C>T	uc003xyg.2	+	9	1683	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	SULF1_uc010lza.1_Silent_p.L374L|SULF1_uc003xyd.2_Silent_p.L374L|SULF1_uc003xye.2_Silent_p.L374L|SULF1_uc003xyf.2_Silent_p.L374L|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	374					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGCTGGGCTCGACACACCTC	0.547000														57			19		0	0	0.007413	0	0
abParts	0	broad.mit.edu	37	14	106877922	106877922	+	RNA	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106877922G>A	uc021ser.1	-	409		c.13003C>T								Parts of antibodies, mostly variable regions.																		GCTGGGACAGGACCCCTGTGA	0.592000														25			14		0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13729599	13729599	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:13729599C>T	uc003jfd.2	-	68	11874	c.11832G>A	c.(11830-11832)ctG>ctA	p.L3944L	DNAH5_uc003jfc.2_Silent_p.L112L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3944					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACCAAATTCAGCCATGTTA	0.373000									Kartagener syndrome					28			13		0	0	0.001855	0	0
UCP3	7352	broad.mit.edu	37	11	73712518	73712518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:73712518G>A	uc001our.3	-	6	1233	c.878C>T	c.(877-879)aCc>aTc	p.T293I		NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	293	Purine nucleotide binding (By similarity).				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CTGCTCATAGGTTACGAACAT	0.478000														24			7		0	0	0.003080	0	0
FDXR	2232	broad.mit.edu	37	17	72862359	72862360	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:72862359_72862360CC>TT	uc010wrl.2	-	4	616_617	c.529_530GG>AA	c.(529-531)ggg>AAg	p.G177K	FDXR_uc010wri.2_Missense_Mutation_p.G82K|FDXR_uc010wrj.2_Missense_Mutation_p.G132K|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Missense_Mutation_p.G134K|FDXR_uc002jly.3_Missense_Mutation_p.G134K|FDXR_uc010wrk.2_Missense_Mutation_p.G165K|FDXR_uc010wrm.2_Missense_Mutation_p.G94K|FDXR_uc002jlz.3_Missense_Mutation_p.G126K|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	134					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GTCCTCTGCCCCGTAGCTCTGA	0.658000														29			17		0	0	0.004672	0	0
CASR	846	broad.mit.edu	37	3	121976156	121976156	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:121976156G>A	uc003eew.4	+	2	852	c.414G>A	c.(412-414)acG>acA	p.T138T	CASR_uc003eev.4_Silent_p.T138T	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	138			T -> M (in FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTCCCTCTACGATTGCTGTGG	0.517000														40			19		0	0	0.010504	0	0
COL5A1	1289	broad.mit.edu	37	9	137708903	137708903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:137708903C>T	uc004cfe.3	+	52	4536	c.4154C>T	c.(4153-4155)cCa>cTa	p.P1385L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1385	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAACCAGGTCCATCGGGGCCT	0.542000														32			12		0	0	0.001368	0	0
TRPM2	7226	broad.mit.edu	37	21	45825123	45825123	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:45825123C>T	uc010gpt.1	+	16	2737	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F	TRPM2_uc002zet.1_Silent_p.F879F|TRPM2_uc002zeu.1_Silent_p.F879F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F879F|TRPM2_uc002zex.1_Silent_p.F665F|TRPM2_uc002zey.1_Silent_p.F392F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	879						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTTGCTCTTCGTGGCAGGGC	0.622000														36			15		0	0	0.006122	0	0
HOXD13	3239	broad.mit.edu	37	2	176959406	176959406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:176959406G>A	uc002ukf.1	+	1	1067	c.980G>A	c.(979-981)cGa>cAa	p.R327Q		NM_000523	NP_000514	P35453	HXD13_HUMAN	Homo sapiens homeobox D13 (HOXD13), mRNA.	327					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TTTCAGAACCGAAGAGTGAAG	0.468000			T	NUP98	AML*									26			9		0	0	0.006214	0	0
EPHA8	2046	broad.mit.edu	37	1	22913029	22913029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:22913029C>T	uc001bfx.1	+	3	1005	c.880C>T	c.(880-882)Cct>Tct	p.P294S	EPHA8_uc001bfw.3_Missense_Mutation_p.P294S	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	294	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.P294L(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCCCGCTGCCCTCCCCACAG	0.687000														32			13		0	0	0.001368	0	0
BCL11B	64919	broad.mit.edu	37	14	99640494	99640494	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:99640494C>T	uc001yga.3	-	3	2946	c.2679G>A	c.(2677-2679)agG>agA	p.R893R	BCL11B_uc001ygb.3_Silent_p.R822R	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	893						nucleus	zinc ion binding	p.E892K(1)|p.E892*(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		gcgcTTAGCTCCTCTCGGCCT	0.612000			T	TLX3	T-ALL									19			7		0	0	0.003080	0	0
OR7A5	26659	broad.mit.edu	37	19	14938706	14938706	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:14938706G>A	uc002mzw.3	-	0	571	c.348C>T	c.(346-348)tcC>tcT	p.S116S	OR7A5_uc010xoa.2_Silent_p.S116S	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						AGGCCATCACGGACAGGAGGA	0.478000														37			12		0	0	0.001855	0	0
TYRO3	7301	broad.mit.edu	37	15	41854896	41854896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:41854896C>T	uc001zof.2	+	3	796	c.560C>T	c.(559-561)cCa>cTa	p.P187L		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	187	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTCCCTCTCCATCTGTTTTA	0.572000														16			5		0	0	0.001984	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289353	132289353	+	Missense_Mutation	SNP	C	T	T	rs145934024		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:132289353C>T	uc002tta.3	+	3	713	c.661C>T	c.(661-663)Cct>Tct	p.P221S	CCDC74A_uc002ttb.3_Missense_Mutation_p.P155S|CCDC74A_uc021vpq.1_Missense_Mutation_p.P221S|CCDC74A_uc021vpr.1_Missense_Mutation_p.P263S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	221								p.P221S(2)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGACAAAGTTCCTGGGGTACA	0.577000														56			25		0	0	0.005443	0	0
MOGAT1	116255	broad.mit.edu	37	2	223554078	223554078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:223554078C>T	uc010fws.1	+	2	416	c.368C>T	c.(367-369)tCt>tTt	p.S123F	MOGAT1_uc010fwt.1_Missense_Mutation_p.S83F	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	123					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GGGAATTTTTCTGTAAATTAT	0.408000														22			24		0	0	0.003954	0	0
ZNF670	93474	broad.mit.edu	37	1	247200868	247200868	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:247200868G>A	uc001icd.2	-	3	1270	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Silent_p.A350A	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGCTTCGAAGGGCACTGGAAG	0.403000														27			22		0	0	0.003954	0	0
NXPH3	11248	broad.mit.edu	37	17	47656122	47656122	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:47656122G>A	uc002ipa.3	+	1	503	c.219G>A	c.(217-219)ggG>ggA	p.G73G		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	73	II.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CCCCGCCTGGGGAGGCTTGGG	0.672000														47			32		0	0	0.006230	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408071	107408071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:107408071C>T	uc003ver.2	-	19	2435	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	SLC26A3_uc003ves.2_Missense_Mutation_p.D629N	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	742					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGGTAAAATCAATTTTTCCA	0.323000														10			7		0	0	0.004482	0	0
FER1L6	654463	broad.mit.edu	37	8	125047670	125047670	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:125047670C>A	uc003yqw.3	+	18	2645	c.2439C>A	c.(2437-2439)caC>caA	p.H813Q	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	813	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCACCAATCACCCCCCATCTA	0.542000														27			7		0.00198382	0.00201172	0.001984	1	0
PANK2	80025	broad.mit.edu	37	20	3891387	3891387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:3891387C>T	uc002wkc.3	+	2	1151	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	PANK2_uc002wkb.3_Missense_Mutation_p.P91L|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_Missense_Mutation_p.P91L|PANK2_uc002wkf.3_5'UTR	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	382					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.P382L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTGAAAAATCCGTATCCTCTG	0.403000														30			13		0	0	0.001368	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633621	70633621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:70633621G>A	uc001xly.3	-	1	2273	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	SLC8A3_uc001xlw.3_Missense_Mutation_p.P507S|SLC8A3_uc001xlx.3_Missense_Mutation_p.P507S|SLC8A3_uc001xlz.3_Missense_Mutation_p.P507S|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	507					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CGAGGCAAGGGAAGACTGTTG	0.493000														40			17		0	0	0.004007	0	0
CA1	759	broad.mit.edu	37	8	86240894	86240894	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:86240894G>A	uc022axc.1	-	6	760	c.681C>T	c.(679-681)ttC>ttT	p.F227F	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Silent_p.F227F|CA1_uc022axd.1_Silent_p.F227F|CA1_uc010mae.2_Silent_p.F227F|CA1_uc003ydi.3_Silent_p.F227F	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	227					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGGCTGCGGAATTGTGCCA	0.388000														46			24		0	0	0.004656	0	0
AP3B2	8120	broad.mit.edu	37	15	83350185	83350185	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:83350185G>T	uc010uoi.2	-	4	685	c.508C>A	c.(508-510)Cct>Act	p.P170T	AP3B2_uc010uoh.2_Missense_Mutation_p.P170T|AP3B2_uc010uoj.2_Missense_Mutation_p.P138T|AP3B2_uc010uog.2_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	170					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TAGAGTTTAGGGATGGCGTGG	0.572000														41			4		0.00024832	0.000252151	0.009096	1	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101760	46101760	+	Silent	SNP	A	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:46101760A>T	uc002zfv.3	-	0	319	c.279T>A	c.(277-279)ccT>ccA	p.P93P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	93	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						AGCAGCAGGAAGGGGTGCTGC	0.622000														40			9		0	0	0.004482	0	0
NRXN1	9378	broad.mit.edu	37	2	50779811	50779811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:50779811G>A	uc021vhh.1	-	7	2594	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	NRXN1_uc002rxb.4_Missense_Mutation_p.S230L|NRXN1_uc021vhg.1_Missense_Mutation_p.S598L|NRXN1_uc021vhi.1_Missense_Mutation_p.S594L|NRXN1_uc021vhj.1_Missense_Mutation_p.S554L|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	558	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATAGTACCTGACCCCATGTC	0.443000														55			20		0	0	0.007413	0	0
NARG2	79664	broad.mit.edu	37	15	60758794	60758794	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:60758794T>C	uc002agp.3	-	5	763	c.528_splice	c.e5+1	p.E176_splice	NARG2_uc002ago.3_Splice_Site_p.E39_splice|NARG2_uc010bgk.3_Splice_Site_p.E176_splice|NARG2_uc002agr.1_Splice_Site_p.E176_splice	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	176						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TTTTTTTACCTCTGTGAAGAG	0.378000														28			12		0	0	0.001855	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221515	42221515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:42221515C>T	uc002orl.3	+	4	1221	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	CEACAM5_uc002orj.1_Missense_Mutation_p.P366L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	367	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCGGTCAGTCCCAGGCTGCAG	0.498000														88			39		0	0	0.002852	0	0
CP	1356	broad.mit.edu	37	3	148924025	148924025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:148924025C>T	uc003ewy.4	-	5	1391	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.E161K|CP_uc003ewz.3_Missense_Mutation_p.E380K|CP_uc010hvf.1_Missense_Mutation_p.E106K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	380	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CAGATGATTTCCTCAGCGGCA	0.403000														40			14		0	0	0.003163	0	0
TBX18	9096	broad.mit.edu	37	6	85466570	85466570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:85466570G>A	uc003pkl.1	-	3	617	c.617C>T	c.(616-618)tCg>tTg	p.S206L	TBX18_uc010kbq.2_Missense_Mutation_p.S48L	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	206					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S206L(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CATCCATTTCGAACTGTGGTA	0.488000														35			9		0	0	0.006214	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2027448	2027448	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:2027448G>A	uc021qsx.1	-	0	423	c.192C>T	c.(190-192)tcC>tcT	p.S64S	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.S64S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	64						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCCACGCAGGGGACAGGGAGG	0.622000														11			3		0	0	0.004672	0	0
PTPRD	5789	broad.mit.edu	37	9	8521361	8521361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:8521361C>T	uc003zkk.3	-	19	1620	c.877G>A	c.(877-879)Gat>Aat	p.D293N	PTPRD_uc003zkp.3_Missense_Mutation_p.D293N|PTPRD_uc003zkq.3_Missense_Mutation_p.D293N|PTPRD_uc003zkr.3_Missense_Mutation_p.D287N|PTPRD_uc003zks.3_Missense_Mutation_p.D283N|PTPRD_uc022bdj.1_Missense_Mutation_p.D290N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	293	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTCTTACATCATTCAGTTCT	0.433000										TSP Lung(15;0.13)				22			14		0	0	0.003163	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884867	228884867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:228884867C>T	uc002vpq.2	-	6	750	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E235K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E235K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	235						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTATATTTTCATAATCTAGT	0.343000														55			27		0	0	0.006320	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140795001	140795001	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140795001C>T	uc003lkl.2	+	0	2259	c.2259C>T	c.(2257-2259)ttC>ttT	p.F753F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.F753F|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGGCTTTCCTGCAGACCT	0.627000														39			13		0	0	0.001855	0	0
ABHD6	57406	broad.mit.edu	37	3	58271159	58271159	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:58271159C>T	uc003djs.4	+	7	1226	c.816C>T	c.(814-816)atC>atT	p.I272I	ABHD6_uc003djt.4_Silent_p.I272I	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.	272						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CGACGCAGATCATCTGGGGGA	0.483000														44			14		0	0	0.003163	0	0
ZNF366	167465	broad.mit.edu	37	5	71739801	71739801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:71739801C>T	uc003kce.1	-	4	2203	c.2017G>A	c.(2017-2019)Gga>Aga	p.G673R		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCCCATTCTCCCTTGGATGCA	0.612000														116			59		0	0	0.003610	0	0
PRDM1	639	broad.mit.edu	37	6	106555155	106555155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:106555155G>A	uc003prd.2	+	6	2506	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K	PRDM1_uc003pre.3_Missense_Mutation_p.E624K	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	758					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGTGGAGAAGGAAATTCTGGC	0.483000			"""D, N, Mis, F, S"""		DLBCL									95			25		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179576943	179576943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179576943G>A	uc021vsy.1	-	92	24107	c.23882C>T	c.(23881-23883)cCg>cTg	p.P7961L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4622L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8888	Ig-like 62.						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)			GACAAAATACGGTGGTTCTGC	0.448000														53			15		0	0	0.004007	0	0
WDR96	80217	broad.mit.edu	37	10	105974173	105974173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:105974173G>A	uc001kxw.3	-	3	544	c.428C>T	c.(427-429)tCg>tTg	p.S143L	WDR96_uc001kxx.4_Missense_Mutation_p.S143L|WDR96_uc001kxy.1_Missense_Mutation_p.S143L|WDR96_uc001kxz.3_Missense_Mutation_p.S143L	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	143										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AATGATACTCGATTCCCAGTT	0.328000														12			6		0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:13769624C>T	uc003jfd.2	-	56	9748	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome					57			20		0	0	0.008871	0	0
CNGB1	1258	broad.mit.edu	37	16	57931709	57931709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:57931709C>T	uc002emt.2	-	29	3151	c.3086G>A	c.(3085-3087)gGa>gAa	p.G1029E	CNGB1_uc010cdh.2_Missense_Mutation_p.G1023E	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1029					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCTTATTTCTCCAAACACAGA	0.592000														287			51		0	0	0.003610	0	0
CA10	56934	broad.mit.edu	37	17	49825153	49825153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:49825153C>T	uc002itv.4	-	4	1059	c.323G>A	c.(322-324)gGa>gAa	p.G108E	CA10_uc002itw.4_Missense_Mutation_p.G102E|CA10_uc002itx.4_Missense_Mutation_p.G102E|CA10_uc002ity.4_Missense_Mutation_p.G102E|CA10_uc002itz.2_Missense_Mutation_p.G102E	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	102					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TACGTGTCTTCCAGTGTTGTA	0.542000														50			14		0	0	0.004990	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251645	24251645	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:24251645G>A	uc003xdz.2	+	3	568	c.348G>A	c.(346-348)acG>acA	p.T116T	ADAMDEC1_uc010lub.2_Silent_p.T37T|ADAMDEC1_uc011lab.1_Silent_p.T37T	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAATTACCACGAAACCTGAGA	0.458000														14			3		0	0	0.004672	0	0
OR4C46	119749	broad.mit.edu	37	11	51515764	51515764	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:51515764C>T	uc010ric.2	+	0	483	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F160F(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCCTCTTCATCTTCCAATTAC	0.463000														46			27		0	0	0.005443	0	0
CDH20	28316	broad.mit.edu	37	18	59221606	59221606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:59221606C>T	uc010dps.1	+	10	2236	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L	CDH20_uc002lif.2_Missense_Mutation_p.P689L	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGGGCCGCCCCCAAGACGCGG	0.697000														37			9		0	0	0.006214	0	0
ZBED4	9889	broad.mit.edu	37	22	50279400	50279400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:50279400C>T	uc003bix.2	+	1	2560	c.2090C>T	c.(2089-2091)cCt>cTt	p.P697L	ZBED4_uc021wrx.1_Missense_Mutation_p.P697L	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	697						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCCCGCCCCTTCCTACTTC	0.458000														68			31		0	0	0.003271	0	0
DISP1	84976	broad.mit.edu	37	1	223177389	223177389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:223177389G>A	uc001hnu.2	+	9	2976	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	884					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.E884E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTACAAGCAAGAGATTTTTGA	0.488000														265			116		0	0	0.003610	0	0
EYA4	2070	broad.mit.edu	37	6	133789851	133789851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:133789851G>A	uc011ecs.2	+	10	1268	c.952G>A	c.(952-954)Gga>Aga	p.G318R	EYA4_uc011ecq.2_Missense_Mutation_p.G264R|EYA4_uc011ecr.2_Missense_Mutation_p.G264R|EYA4_uc003qec.4_Missense_Mutation_p.G318R|EYA4_uc003qed.4_Missense_Mutation_p.G318R|EYA4_uc003qee.4_Missense_Mutation_p.G295R|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	318					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ATCTCTCCCAGGACTGACTAA	0.408000														78			28		0	0	0.007291	0	0
GABRA1	2554	broad.mit.edu	37	5	161302643	161302643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:161302643G>A	uc010jiw.3	+	6	1022	c.554G>A	c.(553-555)gGa>gAa	p.G185E	GABRA1_uc010jix.3_Missense_Mutation_p.G185E|GABRA1_uc010jiy.3_Missense_Mutation_p.G185E|GABRA1_uc003lyx.4_Missense_Mutation_p.G185E|GABRA1_uc010jiz.3_Missense_Mutation_p.G185E|GABRA1_uc010jja.3_Missense_Mutation_p.G185E|GABRA1_uc010jjb.3_Missense_Mutation_p.G185E	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	185					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTAAAATTTGGAAGTTGTGAG	0.393000														40			12		0	0	0.003163	0	0
NOP58	51602	broad.mit.edu	37	2	203149091	203149091	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:203149091C>T	uc002uzb.3	+	4	471	c.321C>T	c.(319-321)atC>atT	p.I107I	NOP58_uc010zhv.1_Silent_p.I107I	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA.	107					cell growth|rRNA processing|snRNP protein import into nucleus	Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TCAGTTGTATCCATAGTCCTG	0.338000														10			7		0	0	0.001984	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498443	123498443	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:123498443G>A	uc001uej.1	-	2	424	c.225C>T	c.(223-225)tcC>tcT	p.S75S	PITPNM2_uc001uek.1_Silent_p.S75S|PITPNM2_uc009zxu.1_Silent_p.S75S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	75					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGGGCAGGATGGAGCGGAACC	0.622000														40			16		0	0	0.006122	0	0
CACNG5	27091	broad.mit.edu	37	17	64875095	64875095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:64875095G>A	uc010wqi.2	+	2	439	c.202G>A	c.(202-204)Gag>Aag	p.E68K	CACNG5_uc010wqj.2_Missense_Mutation_p.E68K	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	68					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACAGGTGAGGAGCGGGGGCG	0.468000														50			20		0	0	0.002299	0	0
PTPRB	5787	broad.mit.edu	37	12	70960357	70960357	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:70960357G>A	uc001swb.4	-	12	3138	c.3108C>T	c.(3106-3108)atC>atT	p.I1036I	PTPRB_uc010sto.2_Intron|PTPRB_uc010stp.2_Silent_p.I946I|PTPRB_uc001swc.4_Silent_p.I1254I|PTPRB_uc001swa.4_Silent_p.I1166I|PTPRB_uc001swd.4_Silent_p.I1253I|PTPRB_uc009zrr.2_Silent_p.I1133I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1036	Fibronectin type-III 12.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCGCAGAAGGATTCCATTTT	0.413000														50			16		0	0	0.004990	0	0
CKAP5	9793	broad.mit.edu	37	11	46800070	46800070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:46800070C>T	uc001ndi.2	-	20	2639	c.2513G>A	c.(2512-2514)gGa>gAa	p.G838E	CKAP5_uc009ylg.1_Missense_Mutation_p.G724E|CKAP5_uc001ndj.2_Missense_Mutation_p.G838E	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	838					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGGTTCATCTCCATCTTCTCC	0.443000														31			20		0	0	0.010504	0	0
RNF17	56163	broad.mit.edu	37	13	25416274	25416274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:25416274G>A	uc001upr.3	+	18	2619	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	RNF17_uc010tdd.1_Missense_Mutation_p.E719K|RNF17_uc010tde.2_Missense_Mutation_p.E860K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E799K|RNF17_uc010aac.3_Missense_Mutation_p.E58K|RNF17_uc010aad.3_5'Flank	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	860					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GCTAGTTAAAGAGGGCCTAGC	0.358000														28			20		0	0	0.002299	0	0
DPPA4	55211	broad.mit.edu	37	3	109049624	109049624	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:109049624C>T	uc003dxq.4	-	4	481	c.426G>A	c.(424-426)cgG>cgA	p.R142R	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Silent_p.R142R	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	142						nucleus	protein binding	p.R142L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GCAATGATTTCCGGATTTTGG	0.393000														22			10		0	0	0.008291	0	0
ADAM29	11086	broad.mit.edu	37	4	175897249	175897249	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:175897249G>A	uc003iuc.3	+	4	1243	c.573G>A	c.(571-573)gtG>gtA	p.V191V	ADAM29_uc003iud.3_Silent_p.V191V|ADAM29_uc010irr.3_Silent_p.V191V|ADAM29_uc011cki.2_Silent_p.V191V|ADAM29_uc021xuo.1_Silent_p.V191V	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	191					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTCTTATGTGGGCTGGTGGA	0.358000														27			15		0	0	0.003163	0	0
IGF2-AS	51214	broad.mit.edu	37	11	2161916	2161916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:2161916G>A	uc010qxi.2	+	0	159	c.43G>A	c.(43-45)Gag>Aag	p.E15K	IGF2_uc001lvg.3_5'Flank|IGF2_uc009ydf.3_Intron|IGF2_uc021qcb.1_Intron|IGF2_uc001lvh.3_Intron|IGF2_uc001lvi.3_Intron|IGF2-AS_uc001lvk.2_Non-coding_Transcript|IGF2-AS_uc001lvl.2_Non-coding_Transcript					Homo sapiens IGF2 antisense RNA 1 (non-protein coding) (IGF2-AS1), transcript variant 1, non-coding RNA.																		CGCCCAGCAGGAGCGAGCGCA	0.706000														4			6		0	0	0.001984	0	0
LRRC7	57554	broad.mit.edu	37	1	70505099	70505099	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:70505099G>C	uc001dep.3	+	18	3508	c.3478G>C	c.(3478-3480)Gtg>Ctg	p.V1160L	LRRC7_uc009wbg.3_Missense_Mutation_p.V444L|LRRC7_uc001deq.3_Missense_Mutation_p.V401L	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1160						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGCGTTACAGTGACTGAGTC	0.498000														50			18		0	0	0.007413	0	0
TCL6	27004	broad.mit.edu	37	14	96129863	96129863	+	RNA	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:96129863G>A	uc001yep.1	+	5		c.1401G>A			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Intron|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		tctttctgcagcccatgccac	0.547000			T	TRA@	T-ALL									17			11		0	0	0.008291	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178820340	178820340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:178820340C>T	uc001gma.3	-	5	1876	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G467E	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	467	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CCAGAAAATTCCATCTTGGTG	0.448000														28			16		0	0	0.006122	0	0
FAM5C	339479	broad.mit.edu	37	1	190234050	190234050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:190234050C>T	uc001gse.1	-	3	795	c.563G>A	c.(562-564)aGg>aAg	p.R188K	FAM5C_uc010pot.1_Missense_Mutation_p.R86K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	188						extracellular region		p.R188G(1)|p.D187E(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGTGCTGTCCCTGTCAATGAA	0.443000														41			11		0	0	0.000978	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161968	161161968	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:161161968G>A	uc001fyt.4	-	7	2402	c.1974C>T	c.(1972-1974)atC>atT	p.I658I		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	658	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCAGCATGGATGCATCGGC	0.562000											OREG0013940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			15		0	0	0.003163	0	0
OR7D2	162998	broad.mit.edu	37	19	9296555	9296555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9296555C>T	uc002mkz.1	+	0	286	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	33					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGTTCCTGTCCATGTACCTG	0.507000														21			14		0	0	0.003163	0	0
COL6A3	1293	broad.mit.edu	37	2	238275439	238275439	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:238275439G>A	uc002vwl.2	-	10	5676	c.5391C>T	c.(5389-5391)ttC>ttT	p.F1797F	COL6A3_uc002vwo.2_Silent_p.F1591F|COL6A3_uc010znj.1_Silent_p.F1190F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1797	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A1796A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCCCACGCGGAACGCTGTGG	0.547000														31			10		0	0	0.006214	0	0
GBX2	2637	broad.mit.edu	37	2	237076349	237076349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:237076349C>T	uc002vvw.1	-	0	304	c.266G>A	c.(265-267)gGc>gAc	p.G89D	GBX2_uc010zng.1_Missense_Mutation_p.G79D	NM_001485	NP_001476	P52951	GBX2_HUMAN	Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA.	89				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGAGCAGAAGCCTGTGGGCAG	0.771000														11			9		0	0	0.000978	0	0
LZTR1	8216	broad.mit.edu	37	22	21328912	21328912	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:21328912T>C	uc002ztj.2	+	7	825	c.607_splice	c.e7+2	p.G203_splice	LZTR1_uc002ztk.2_Splice_Site_p.G203_splice|LZTR1_uc002ztl.2_Splice_Site_p.G209_splice|LZTR1_uc011ahx.1_Splice_Site_p.G191_splice	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGTGCAGGTTGGTAGTGGG	0.602000														24			9		0	0	0.004482	0	0
GALNTL2	117248	broad.mit.edu	37	3	16268951	16268951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:16268951G>A	uc003car.4	+	9	2339	c.1864G>A	c.(1864-1866)Gga>Aga	p.G622R	GALNTL2_uc003caq.4_Missense_Mutation_p.G355R|GALNTL2_uc003cas.4_Missense_Mutation_p.G152R	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	622	Ricin B-type lectin.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						TCCGTGTGATGGAAAAGCCCG	0.433000														40			22		0	0	0.003954	0	0
BBOX1	8424	broad.mit.edu	37	11	27077077	27077077	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:27077077T>C	uc001mre.1	+	2	468	c.100T>C	c.(100-102)Ttg>Ctg	p.L34L	BBOX1_uc009yih.1_Silent_p.L34L|BBOX1_uc001mrg.1_Silent_p.L34L|BBOX1_uc021qfd.1_Silent_p.L34L	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	34					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	AGCTGTATGGTTGAGAGACAA	0.473000														21			13		0	0	0.001855	0	0
KDR	3791	broad.mit.edu	37	4	55968074	55968074	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:55968074G>A	uc003has.3	-	14	2558	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F	KDR_uc003hat.1_Silent_p.F752F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	752	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCTATTATGAAAAATGCCT	0.468000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				43			20		0	0	0.010504	0	0
FREM1	158326	broad.mit.edu	37	9	14859353	14859353	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:14859353C>T	uc003zlm.3	-	4	1275	c.459G>A	c.(457-459)gcG>gcA	p.A153A	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	153					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTTATCAATCGCTTGGGACA	0.488000														34			37		0	0	0.006999	0	0
CCDC141	285025	broad.mit.edu	37	2	179736919	179736919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179736919C>T	uc002une.2	-	12	2138	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	CCDC141_uc002unf.1_Missense_Mutation_p.A153T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	99							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTTCCGTGGCTTTAAGCTGC	0.458000														23			8		0	0	0.003080	0	0
C2orf53	339779	broad.mit.edu	37	2	27361021	27361021	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:27361021G>A	uc002rjb.2	-	2	757	c.177C>T	c.(175-177)ccC>ccT	p.P59P	C2orf53_uc021vfb.1_Silent_p.P59P	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	59	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGGAGGAGGGACGACGGG	0.567000														25			3		0	0	0.004672	0	0
MAEL	84944	broad.mit.edu	37	1	166958989	166958989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:166958989G>A	uc001gdy.1	+	1	219	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	MAEL_uc021peh.1_5'UTR|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	50					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAGGGAGGAAGAAAAGGAGAA	0.547000														25			10		0	0	0.006214	0	0
LONRF3	79836	broad.mit.edu	37	X	118140157	118140157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:118140157C>T	uc004eqw.3	+	5	1520	c.1489C>T	c.(1489-1491)Cac>Tac	p.H497Y	LONRF3_uc004eqx.3_Missense_Mutation_p.H456Y|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.H241Y	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	497					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						ATGCCTAGATCACAACGCAAA	0.348000														27			45		0	0	0.003610	0	0
CARD6	84674	broad.mit.edu	37	5	40843599	40843599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:40843599G>A	uc003jmg.3	+	1	704	c.629G>A	c.(628-630)gGa>gAa	p.G210E		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	210	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTATACTTAGGAAAAGAGGAA	0.398000														15			9		0	0	0.006214	0	0
CREBBP	1387	broad.mit.edu	37	16	3900838	3900838	+	Silent	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:3900838T>A	uc002cvv.3	-	1	462	c.258A>T	c.(256-258)atA>atT	p.I86I	CREBBP_uc002cvw.3_Silent_p.I86I	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	86					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCACATTTCCTATTCCTGGGT	0.562000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							37			17		0	0	0.006122	0	0
GALNTL5	168391	broad.mit.edu	37	7	151704929	151704929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:151704929G>A	uc003wkp.3	+	6	1196	c.926G>A	c.(925-927)gGa>gAa	p.G309E	GALNTL5_uc010lqf.3_Missense_Mutation_p.G198E|GALNTL5_uc003wkq.3_Missense_Mutation_p.G60E|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	309	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GCAATGTCTGGAGGAATTTTT	0.323000														37			15		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9012794	9012794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9012794C>T	uc002mkp.3	-	33	38854	c.38650G>A	c.(38650-38652)Gag>Aag	p.E12884K	MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12886	SEA 6.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCCGCTCCGTGGTGTTG	0.587000														68			26		0	0	0.004656	0	0
ABCA6	23460	broad.mit.edu	37	17	67106984	67106984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:67106984G>A	uc002jhw.1	-	16	2405	c.2230C>T	c.(2230-2232)Ctt>Ttt	p.L744F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	744					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GTATATACAAGCTTTTCTTTG	0.303000														19			4		0	0	0.009096	0	0
PKD1	5310	broad.mit.edu	37	16	2153848	2153848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:2153848G>A	uc002cos.1	-	22	8419	c.8210C>T	c.(8209-8211)tCa>tTa	p.S2737L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.S2737L|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2737	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCCAGCTCTGAGGGCTGTGG	0.647000														16			7		0	0	0.001984	0	0
CPNE4	131034	broad.mit.edu	37	3	131404763	131404763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:131404763G>A	uc011blq.2	-	5	711	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	CPNE4_uc003eok.3_Missense_Mutation_p.R183C|CPNE4_uc003eol.3_Missense_Mutation_p.R201C|CPNE4_uc003eom.3_Missense_Mutation_p.R183C	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	183	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCATTCATACGAAAAATTTCC	0.383000														13			8		0	0	0.006214	0	0
DPPA2	151871	broad.mit.edu	37	3	109026926	109026926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:109026926G>A	uc003dxo.3	-	5	858	c.611C>T	c.(610-612)tCa>tTa	p.S204L		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	204						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGGAACATGAATTCAAAGC	0.453000														39			5		0	0	0.000602	0	0
GRIA2	2891	broad.mit.edu	37	4	158224908	158224908	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:158224908G>A	uc003ipm.4	+	2	893	c.434G>A	c.(433-435)tGg>tAg	p.W145*	GRIA2_uc011cit.2_Nonsense_Mutation_p.W98*|GRIA2_uc021xtr.1_Nonsense_Mutation_p.W145*|GRIA2_uc003ipl.4_Nonsense_Mutation_p.W145*|GRIA2_uc003ipk.4_Nonsense_Mutation_p.W98*|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	145					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TACTATCAATGGGACAAGTTT	0.438000														66			30		0	0	0.007291	0	0
PTCH1	5727	broad.mit.edu	37	9	98231303	98231303	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:98231303G>A	uc004avk.4	-	13	2168	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	PTCH1_uc010mro.3_Silent_p.S509S|PTCH1_uc010mrp.3_Silent_p.S509S|PTCH1_uc010mrq.3_Silent_p.S509S|PTCH1_uc004avl.4_Silent_p.S509S|PTCH1_uc004avm.4_Silent_p.S659S|PTCH1_uc010mrr.3_Silent_p.S594S|LOC100507346_uc022bkm.1_Non-coding_Transcript|PTCH1_uc010mrs.1_Silent_p.S328S	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	660					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.Q659Q(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTGGACAGTGGACTGCATGG	0.617000														66			24		0	0	0.004656	0	0
COL6A6	131873	broad.mit.edu	37	3	130287413	130287413	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:130287413A>G	uc010htl.3	+	4	2397	c.2366A>G	c.(2365-2367)gAt>gGt	p.D789G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	789	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGCATTGAAGATGATCTTGTT	0.458000														37			18		0	0	0.010504	0	0
RTP3	83597	broad.mit.edu	37	3	46542317	46542317	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:46542317G>A	uc003cps.1	+	1	695	c.627G>A	c.(625-627)agG>agA	p.R209R		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	209					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ACATCTGTAGGAACTTAAGCA	0.433000														25			16		0	0	0.004990	0	0
abParts	0	broad.mit.edu	37	14	106926618	106926618	+	RNA	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106926618G>A	uc021ser.1	-	324		c.11353C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.473000														62			25		0	0	0.006320	0	0
OPRK1	4986	broad.mit.edu	37	8	54142134	54142134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:54142134G>A	uc003xrh.1	-	2	1241	c.866C>T	c.(865-867)cCc>cTc	p.P289L	OPRK1_uc022aup.1_Missense_Mutation_p.P169L|OPRK1_uc003xri.1_Missense_Mutation_p.P289L|OPRK1_uc010lyc.1_Missense_Mutation_p.P200L	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	289					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TATGTGAATGGGAGTCCAGCA	0.567000														19			8		0	0	0.004482	0	0
DCC	1630	broad.mit.edu	37	18	50976915	50976915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:50976915C>T	uc002lfe.2	+	22	3891	c.3275C>T	c.(3274-3276)cCt>cTt	p.P1092L	DCC_uc010dpf.2_Missense_Mutation_p.P727L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1092					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTGTCACTCCTCAGAAGAAC	0.512000														36			13		0	0	0.001368	0	0
PRAM1	84106	broad.mit.edu	37	19	8563972	8563972	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:8563972G>A	uc002mkd.3	-	1	783	c.720C>T	c.(718-720)tcC>tcT	p.S240S		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	288	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCTGCGGCACGGACTTCTTAG	0.612000														39			12		0	0	0.000978	0	0
CACNA1C	775	broad.mit.edu	37	12	2676817	2676817	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:2676817C>T	uc009zdu.1	+	12	2065	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	CACNA1C_uc001qkc.2_Silent_p.F584F|CACNA1C_uc001qjz.2_Silent_p.F584F|CACNA1C_uc001qkd.2_Silent_p.F584F|CACNA1C_uc001qke.2_Silent_p.F584F|CACNA1C_uc001qkf.2_Silent_p.F584F|CACNA1C_uc009zdw.1_Silent_p.F584F|CACNA1C_uc001qkg.2_Silent_p.F584F|CACNA1C_uc001qkh.2_Silent_p.F584F|CACNA1C_uc001qkl.2_Silent_p.F584F|CACNA1C_uc001qkj.2_Silent_p.F584F|CACNA1C_uc001qkk.2_Silent_p.F584F|CACNA1C_uc001qkn.2_Silent_p.F584F|CACNA1C_uc001qkm.2_Silent_p.F584F|CACNA1C_uc001qko.2_Silent_p.F584F|CACNA1C_uc001qkp.2_Silent_p.F584F|CACNA1C_uc001qkq.2_Silent_p.F584F|CACNA1C_uc001qku.2_Silent_p.F584F|CACNA1C_uc001qkr.2_Silent_p.F584F|CACNA1C_uc001qks.2_Silent_p.F584F|CACNA1C_uc001qkt.2_Silent_p.F584F|CACNA1C_uc009zdv.1_Silent_p.F581F|CACNA1C_uc001qkb.2_Silent_p.F584F|CACNA1C_uc001qka.1_Silent_p.F119F|CACNA1C_uc001qki.1_Silent_p.F320F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	584					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGCCTACTTCGTGTCCCTCT	0.607000														9			4		0	0	0.009096	0	0
ZNF484	83744	broad.mit.edu	37	9	95609601	95609601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:95609601G>A	uc004asu.1	-	4	1617	c.1468C>T	c.(1468-1470)Cat>Tat	p.H490Y	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.H492Y|ZNF484_uc004asv.1_Missense_Mutation_p.H454Y|ZNF484_uc010mrb.1_Missense_Mutation_p.H454Y	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTCCTGTATGAATTTTCTGG	0.393000														31			14		0	0	0.001855	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153279639	153279639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:153279639C>T	uc001fbn.1	-	1	213	c.160G>A	c.(160-162)Ggg>Agg	p.G54R		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	54					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTGCATCCCTGGGAGCTGG	0.632000														13			7		0	0	0.003080	0	0
PLCL2	23228	broad.mit.edu	37	3	17052090	17052090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:17052090G>A	uc011awc.2	+	2	1324	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.D292N	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	418					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTATATATTCGATCCAGAACA	0.388000														43			31		0	0	0.002445	0	0
TRIM71	131405	broad.mit.edu	37	3	32931959	32931959	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:32931959C>T	uc003cff.3	+	3	1326	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	421					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCAGCAGGTCCTGGAGGAGG	0.617000														36			9		0	0	0.006214	0	0
CCR2	729230	broad.mit.edu	37	3	46399427	46399427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:46399427G>A	uc003cpn.4	+	1	894	c.409G>A	c.(409-411)Gat>Aat	p.D137N	CCR2_uc003cpm.4_Missense_Mutation_p.D137N|CCR2_uc021wxa.1_Missense_Mutation_p.D137N	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	137					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CCTGACAATCGATAGATACCT	0.458000														232			115		0	0	0.003610	0	0
OR3A2	4995	broad.mit.edu	37	17	3181392	3181392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:3181392C>T	uc002fvg.3	-	0	877	c.838G>A	c.(838-840)Gat>Aat	p.D280N		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	280					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						ACCCCTTTATCCTTGTCTGAA	0.478000														32			14		0	0	0.002450	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947813	57947813	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:57947813C>T	uc021qjm.1	+	0	897	c.897C>T	c.(895-897)gcC>gcT	p.A299A	OR9Q1_uc001nmj.3_Silent_p.A299A	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGAAGGAGGCCCTGAGAAAAA	0.478000														18			8		0	0	0.004482	0	0
AVPR1B	553	broad.mit.edu	37	1	206224958	206224958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:206224958C>T	uc001hds.2	+	0	676	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	173					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCATTTTTTCCCTGCGGGAG	0.652000														32			24		0	0	0.003954	0	0
LAMA4	3910	broad.mit.edu	37	6	112454586	112454586	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:112454586G>A	uc003pvu.2	-	26	3970	c.3661C>T	c.(3661-3663)Ctg>Ttg	p.L1221L	LAMA4_uc003pvv.2_Silent_p.L1214L|LAMA4_uc003pvt.2_Silent_p.L1214L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1221	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCAACTCCCAGGGTTTCTGTC	0.433000														68			11		0	0	0.000978	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239999	160239999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:160239999C>T	uc003qsy.1	+	16	1318	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	PNLDC1_uc003qsx.1_Missense_Mutation_p.P416S	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	416						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCCAGATTATCCCAGTATCCG	0.443000														78			19		0	0	0.010504	0	0
FAM50B	26240	broad.mit.edu	37	6	3850849	3850849	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:3850849C>T	uc003mvu.3	+	1	916	c.804C>T	c.(802-804)ttC>ttT	p.F268F	FAM50B_uc021ykt.1_Silent_p.F268F	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	268						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TCTTCAGCTTCGATGTGCACG	0.607000														46			11		0	0	0.008291	0	0
OR4M1	441670	broad.mit.edu	37	14	20248610	20248610	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20248610C>T	uc010tku.2	+	0	129	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGAAATATCCTTATCATTT	0.418000														92			45		0	0	0.003610	0	0
SLC24A2	25769	broad.mit.edu	37	9	19576974	19576974	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:19576974C>T	uc003zoa.2	-	4	1329	c.1176G>A	c.(1174-1176)aaG>aaA	p.K392K	SLC24A2_uc003zob.2_Silent_p.K375K	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	392					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CATGACATTTCTTCTTGGCGA	0.507000														41			26		0	0	0.002096	0	0
MUC16	94025	broad.mit.edu	37	19	9074844	9074844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9074844C>T	uc002mkp.3	-	2	12806	c.12602G>A	c.(12601-12603)gGg>gAg	p.G4201E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4203	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGGTCTTCCCCAGGCCAGA	0.502000														25			4		0	0	0.001168	0	0
WDR81	124997	broad.mit.edu	37	17	1631646	1631646	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:1631646C>T	uc002ftj.2	+	0	3522	c.3393C>T	c.(3391-3393)ccC>ccT	p.P1131P	WDR81_uc002fth.2_Silent_p.P80P|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGGGTGCCCCCGTGGACAAGA	0.657000														42			16		0	0	0.006122	0	0
FSCN3	29999	broad.mit.edu	37	7	127235401	127235401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:127235401C>T	uc003vmd.2	+	1	404	c.185C>T	c.(184-186)gCc>gTc	p.A62V	FSCN3_uc003vmc.1_Missense_Mutation_p.A17V|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Missense_Mutation_p.A62V	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	62						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GAGACACAGGCCGTGGTGCGA	0.562000														33			10		0	0	0.008291	0	0
CACNA1A	773	broad.mit.edu	37	19	13418632	13418632	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:13418632G>A	uc002mwy.3	-	14	2186	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	CACNA1A_uc010dzc.2_Silent_p.F176F|CACNA1A_uc010xnd.2_Silent_p.F650F|CACNA1A_uc021ups.1_Silent_p.F650F|CACNA1A_uc010xne.2_Silent_p.F650F|CACNA1A_uc010dze.2_Silent_p.F650F|CACNA1A_uc021upt.1_Silent_p.F651F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	651					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T649I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAAAAGTATCGAAGTTGGTGG	0.557000														54			23		0	0	0.003954	0	0
KCNA6	3742	broad.mit.edu	37	12	4920731	4920731	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:4920731G>A	uc001qng.3	+	0	2390	c.1524G>A	c.(1522-1524)cgG>cgA	p.R508R	KCNA6_uc021qtr.1_Silent_p.R508R	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	508						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACCGGGAACGGAGACCCAGCT	0.612000										HNSCC(72;0.22)				44			20		0	0	0.010504	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559235	1559235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:1559235G>A	uc010gai.3	-	1	281	c.182C>T	c.(181-183)cCt>cTt	p.P61L	SIRPB1_uc002wfk.4_Missense_Mutation_p.P61L	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	61	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGGCCCCACAGGGATCAGGGA	0.537000														56			23		0	0	0.002780	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709186	176709186	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:176709186C>T	uc001gkz.3	+	13	5169	c.4005C>T	c.(4003-4005)ttC>ttT	p.F1335F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1335					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L1334L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATGTCCTTTTCCACCATACCA	0.483000														59			20		0	0	0.002299	0	0
OR6C3	254786	broad.mit.edu	37	12	55726161	55726161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:55726161C>T	uc010spj.2	+	0	677	c.677C>T	c.(676-678)cCg>cTg	p.P226L		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTGAGAATCCCGTCTGCCAGT	0.353000														28			13		0	0	0.001855	0	0
PDE3A	5139	broad.mit.edu	37	12	20832983	20832983	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:20832983G>A	uc001reh.2	+	15	3244	c.3204G>A	c.(3202-3204)agG>agA	p.R1068R	PDE3A_uc021qwa.1_Silent_p.R746R	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1068	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTTTCAAAAGGAGAAAAATCT	0.358000														21			7		0	0	0.001984	0	0
FSIP2	401024	broad.mit.edu	37	2	186670720	186670720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:186670720G>A	uc002upl.3	+	16	16954	c.16954G>A	c.(16954-16956)Gaa>Aaa	p.E5652K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAATAATAATGAAATTGAGAA	0.269000														38			10		0	0	0.000978	0	0
CEACAM6	4680	broad.mit.edu	37	19	42266031	42266031	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:42266031C>T	uc002orm.2	+	3	1007	c.858C>T	c.(856-858)atC>atT	p.I286I		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	286	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGCTCTTTATCCCCAACATCA	0.488000														44			14		0	0	0.003163	0	0
SNTG2	54221	broad.mit.edu	37	2	1271191	1271191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:1271191G>A	uc002qwq.3	+	13	1261	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	SNTG2_uc010ewi.3_Missense_Mutation_p.D251N	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	378	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGGTCTTCAAGATTTTGACTT	0.522000														11			4		0	0	0.009096	0	0
RDH16	8608	broad.mit.edu	37	12	57348915	57348915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:57348915G>A	uc001smi.4	-	1	519	c.347C>T	c.(346-348)tCc>tTc	p.S116F	RDH16_uc009zpa.3_Intron	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	116					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CGTGGGCAAGGAGATGCCAGC	0.552000														16			7		0	0	0.001984	0	0
CYLC1	1538	broad.mit.edu	37	X	83129493	83129493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:83129493G>A	uc004eei.1	+	3	1798	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	CYLC1_uc004eeh.1_Missense_Mutation_p.E592K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	593					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGAAAAAGGGGAAAAAGCAAG	0.423000														2			12		0	0	0.000978	0	0
ZNF174	7727	broad.mit.edu	37	16	3454464	3454464	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:3454464G>A	uc002cvc.3	+	1	1256	c.441G>A	c.(439-441)gaG>gaA	p.E147E	ZNF174_uc002cva.2_Silent_p.E147E|ZNF174_uc002cvb.3_Silent_p.E147E	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	147					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TGCTCTTGGAGAAAACTGGAT	0.527000														94			35		0	0	0.006999	0	0
RCN3	57333	broad.mit.edu	37	19	50045922	50045922	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:50045922T>G	uc002poj.3	+	5	1239	c.792T>G	c.(790-792)agT>agG	p.S264R		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	264	EF-hand 5.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGGATGGGAGTGAGGTGGGCC	0.677000														9			3		0	0	0.004672	0	0
EFCAB6	64800	broad.mit.edu	37	22	43933284	43933284	+	Missense_Mutation	SNP	C	T	T	rs149931639	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:43933284C>T	uc003bdy.2	-	28	4335	c.4021G>A	c.(4021-4023)Ggg>Agg	p.G1341R	EFCAB6_uc003bdz.2_Missense_Mutation_p.G1189R|EFCAB6_uc010gzi.2_Missense_Mutation_p.G1189R	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1341	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTGATGTCCCCCTGTCTGGCC	0.557000														77			24		0	0	0.006320	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439502	145439502	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:145439502C>T	uc003lnt.3	+	8	1867	c.1629C>T	c.(1627-1629)acC>acT	p.T543T	SH3RF2_uc011dbl.1_Silent_p.T543T|SH3RF2_uc011dbm.1_Silent_p.T28T|SH3RF2_uc003lnu.3_Silent_p.T34T|SH3RF2_uc011dbn.1_Silent_p.T34T|SH3RF2_uc011dbo.2_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	543							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGCCCCACCATGGTCCTTC	0.617000														34			17		0	0	0.004990	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392675	22392675	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:22392675T>C	uc010aiz.2	+	1	273	c.198T>C	c.(196-198)atT>atC	p.I66I	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_Non-coding_Transcript					SubName: Full=HADV14S1; Flags: Fragment;																		GGGAAATGATTTTTCTTATTT	0.443000														58			26		0	0	0.002445	0	0
MARK2	2011	broad.mit.edu	37	11	63670575	63670575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:63670575C>T	uc001nxw.3	+	13	2038	c.1459C>T	c.(1459-1461)Cca>Tca	p.P487S	MARK2_uc001nxv.4_Missense_Mutation_p.P486S|MARK2_uc001nxx.3_Missense_Mutation_p.P487S|MARK2_uc001nxy.3_Missense_Mutation_p.P486S|MARK2_uc001nxz.4_Missense_Mutation_p.P453S|MARK2_uc009yoy.3_Missense_Mutation_p.P453S	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	487					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGGAATTCCCCACTTTTGGA	0.577000														66			26		0	0	0.002096	0	0
OBSCN	84033	broad.mit.edu	37	1	228528804	228528804	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:228528804C>T	uc009xez.1	+	72	17750	c.17706C>T	c.(17704-17706)ttC>ttT	p.F5902F	OBSCN_uc001hsn.3_Silent_p.F5902F|OBSCN_uc001hsr.1_Silent_p.F531F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5902	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGCCACTTCATCGTGTGGG	0.682000														14			6		0	0	0.003080	0	0
AXDND1	126859	broad.mit.edu	37	1	179497464	179497464	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:179497464A>G	uc001gmo.3	+	22	3000	c.2613A>G	c.(2611-2613)caA>caG	p.Q871Q	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Silent_p.Q755Q|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	871	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGTTCTAGCAACCTTCAACAT	0.443000														15			5		0	0	0.000602	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117776419	117776419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:117776419C>T	uc001prs.2	-	9	1461	c.1315G>A	c.(1315-1317)Gga>Aga	p.G439R	TMPRSS13_uc009yzr.2_Missense_Mutation_p.G404R|TMPRSS13_uc021qrc.1_Missense_Mutation_p.G439R|TMPRSS13_uc001prt.1_Missense_Mutation_p.G118R	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	434	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AAGGTCTGTCCATGCATGGGG	0.527000														6			4		0	0	0.000602	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687255	68687255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:68687255G>A	uc001jmz.1	+	1	1131	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.R194Q	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	194						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AACCGGATCCGAAGTTTAGCC	0.468000														48			18		0	0	0.008871	0	0
MGAM	8972	broad.mit.edu	37	7	141708471	141708471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:141708471G>A	uc003vwy.3	+	2	347	c.293G>A	c.(292-294)cGa>cAa	p.R98Q		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	98	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R98Q(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTGGAACGAATTAATTGC	0.403000														32			14		0	0	0.004007	0	0
CRISP2	7180	broad.mit.edu	37	6	49668450	49668450	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:49668450C>T	uc003ozn.2	-	4	350	c.114G>A	c.(112-114)agG>agA	p.R38R	CRISP2_uc003ozr.2_Silent_p.R38R|CRISP2_uc003ozo.2_Silent_p.R38R|CRISP2_uc003ozm.2_Silent_p.R38R|CRISP2_uc003ozp.2_Silent_p.R38R|CRISP2_uc003ozq.2_Silent_p.R38R|CRISP2_uc003ozl.2_Silent_p.R38R	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	38						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTACAATCTCCCTTTGCACTT	0.363000														39			14		0	0	0.002450	0	0
PRSS35	167681	broad.mit.edu	37	6	84233438	84233438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:84233438G>A	uc003pjz.3	+	1	518	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	PRSS35_uc010kbm.3_Missense_Mutation_p.R93Q|PRSS35_uc021zce.1_Missense_Mutation_p.R93Q	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	93					proteolysis	extracellular region	serine-type endopeptidase activity	p.R93R(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AATGGCACCCGAACCTTAACC	0.453000														37			8		0	0	0.004482	0	0
SLC1A6	6511	broad.mit.edu	37	19	15067400	15067400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:15067400G>A	uc002naa.1	-	5	1064	c.1057C>T	c.(1057-1059)Cat>Tat	p.H353Y	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.H289Y	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	353					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ATGCCGGCATGGAGGAACAGG	0.587000														23			19		0	0	0.007413	0	0
ZNF471	57573	broad.mit.edu	37	19	57037299	57037299	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:57037299T>C	uc002qnh.3	+	4	1996	c.1863T>C	c.(1861-1863)caT>caC	p.H621H		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAAGAAGTCATACTGGAGAAG	0.413000														13			7		0	0	0.003080	0	0
ASZ1	136991	broad.mit.edu	37	7	117003787	117003787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:117003787C>T	uc003vjb.2	-	12	1354	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	ASZ1_uc011kno.1_Missense_Mutation_p.E422K|ASZ1_uc011knp.1_Missense_Mutation_p.E223K	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	431					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GGATCATTTTCCCGTTCATTT	0.284000														18			6		0	0	0.001168	0	0
IRF7	3665	broad.mit.edu	37	11	613290	613290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:613290C>T	uc001lqg.3	-	6	1602	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S	IRF7_uc009ycb.3_Missense_Mutation_p.G279S|IRF7_uc010qwf.2_Missense_Mutation_p.G384S|IRF7_uc001lqf.3_Missense_Mutation_p.G92S|IRF7_uc010qwg.2_Missense_Mutation_p.G92S|IRF7_uc001lqh.3_Missense_Mutation_p.G385S|IRF7_uc001lqi.3_Missense_Mutation_p.G356S|IRF7_uc010qwh.2_Missense_Mutation_p.G92S	NM_004031	NP_004022	Q92985	IRF7_HUMAN	Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA.	385					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGCGGAGCCTGGGGGTCCG	0.672000														23			16		0	0	0.004007	0	0
HLA-G	3135	broad.mit.edu	37	6	29796437	29796437	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:29796437T>C	uc003nnw.2	+	3	639	c.461T>C	c.(460-462)cTg>cCg	p.L154P	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Missense_Mutation_p.L126P|HLA-G_uc003raj.3_Missense_Mutation_p.L159P|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	154	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity	p.L154fs*60(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						AACGAGGACCTGCGCTCCTGG	0.622000														78			19		0	0	0.007413	0	0
ZNF222	7673	broad.mit.edu	37	19	44536578	44536578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:44536578C>T	uc002oye.3	+	3	966	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Missense_Mutation_p.H251Y|ZNF222_uc002oyd.3_Missense_Mutation_p.H197Y	NM_001129996	NP_001123468	Q9UK12	ZN222_HUMAN	Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TCACAGAATTCATACTGGGGA	0.393000														44			24		0	0	0.003954	0	0
PI4KA	5297	broad.mit.edu	37	22	21088121	21088122	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:21088121_21088122GG>AA	uc002zsz.4	-	34	4149_4150	c.3888_3889CC>TT	c.(3886-3891)accctg>acTTtg	p.1296_1297TL>TL	PI4KA_uc002zsy.4_Silent_p.106_107TL>TL	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1296					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GACAGCCCCAGGGTCAGCAGCC	0.584000														54			23		0	0	0.004672	0	0
ZNF366	167465	broad.mit.edu	37	5	71756160	71756160	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:71756160C>T	uc003kce.1	-	1	1350	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGATGGGGCCCCGGTGCGTGG	0.612000														33			14		0	0	0.001855	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242503	87242503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:87242503C>T	uc003ydq.1	-	0	102	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SLC7A13_uc003ydr.1_Missense_Mutation_p.D2N	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	2						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCCCTCTATCCATTGTAATT	0.343000														24			13		0	0	0.003163	0	0
CD163L1	283316	broad.mit.edu	37	12	7559373	7559373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:7559373C>T	uc010sge.2	-	4	898	c.872G>A	c.(871-873)gGa>gAa	p.G291E	CD163L1_uc001qsy.3_Missense_Mutation_p.G281E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	281	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCCACCTTCCTTGGATTTT	0.478000														56			19		0	0	0.008871	0	0
C1orf109	54955	broad.mit.edu	37	1	38155297	38155298	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:38155297_38155298CC>AT	uc010oig.2	-	1	549_550	c.444_445GG>AT	c.(442-447)ctggac>ctATac	p.D149Y	C1orf109_uc001cbo.3_Missense_Mutation_p.D148Y|C1orf109_uc001cbp.3_Missense_Mutation_p.D86Y|C1orf109_uc001cbq.1_Intron|CDCA8_uc001cbr.3_5'Flank|CDCA8_uc001cbs.3_5'Flank	NM_017850	NP_060320	Q9NX04	CA109_HUMAN	Homo sapiens chromosome 1 open reading frame 109 (C1orf109), mRNA.	86										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				CCTAGCTTGTCCAGGACGATGT	0.520000														69			30		0	0	0.004672	0	0
NF1	4763	broad.mit.edu	37	17	29559743	29559743	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:29559743T>A	uc002hgg.3	+	25	3723	c.3340T>A	c.(3340-3342)Ttg>Atg	p.L1114M	NF1_uc002hgh.3_Missense_Mutation_p.L1114M|NF1_uc010csn.2_Missense_Mutation_p.L974M|NF1_uc002hgi.1_Missense_Mutation_p.L147M	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1114					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATGAACCTTTTGAATGACTG	0.433000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				11			6		0	0	0.001168	0	0
COL20A1	57642	broad.mit.edu	37	20	61939340	61939340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:61939340G>A	uc011aau.2	+	6	773	c.673G>A	c.(673-675)Ggg>Agg	p.G225R	COL20A1_uc011aav.2_Missense_Mutation_p.G46R	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	225	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCAGTACAGCGGGGATGCTCA	0.632000														26			7		0	0	0.001984	0	0
MST1R	4486	broad.mit.edu	37	3	49928029	49928029	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:49928029G>A	uc003cxy.4	-	17	3963	c.3699C>T	c.(3697-3699)atC>atT	p.I1233I	MST1R_uc011bdc.2_Silent_p.I1184I	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1233	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.D1232D(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCCTGTCCAGGATGTCGCGGG	0.552000														23			8		0	0	0.006214	0	0
LCE1A	353131	broad.mit.edu	37	1	152800131	152800131	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152800131C>T	uc010pdw.2	+	0	183	c.183C>T	c.(181-183)agC>agT	p.S61S		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	61	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGGCTGCAGCTCTGGGGGAG	0.677000														48			6		0	0	0.001984	0	0
DSP	1832	broad.mit.edu	37	6	7581388	7581388	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:7581388G>A	uc003mxp.1	+	22	5244	c.4965G>A	c.(4963-4965)agG>agA	p.R1655R	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1655	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGAGCTGAGGAGGCTCTCTT	0.552000														81			25		0	0	0.003954	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45945705	45945705	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:45945705G>A	uc001nbv.1	+	4	480	c.369_splice	c.e4-1	p.R123_splice	GYLTL1B_uc001nbw.1_Splice_Site_p.R92_splice|GYLTL1B_uc001nbx.1_Splice_Site_p.R123_splice	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	123					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CACCCAAAAGGAAAAATCCAC	0.597000														25			17		0	0	0.007413	0	0
TMEM135	65084	broad.mit.edu	37	11	87032329	87032329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:87032329C>T	uc001pch.3	+	14	1533	c.1331C>T	c.(1330-1332)cCa>cTa	p.P444L	TMEM135_uc010rtt.2_Missense_Mutation_p.P305L|TMEM135_uc001pci.3_Missense_Mutation_p.P422L	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA.	444						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTTGGATCCAAGATACACA	0.373000														31			7		0	0	0.006214	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011984	73011984	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:73011984G>A	uc003tyn.1	-	8	1179	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Silent_p.L377L|MLXIPL_uc003tym.1_Silent_p.L377L|MLXIPL_uc003tyl.1_Silent_p.L377L|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.L284L|MLXIPL_uc003tyq.1_Silent_p.L119L	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	377					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTCAGGAAGGAGGAAATCAG	0.652000														18			8		0	0	0.004482	0	0
CD109	135228	broad.mit.edu	37	6	74512972	74512972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:74512972G>A	uc003php.3	+	23	3339	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	CD109_uc003phq.3_Missense_Mutation_p.E970K|CD109_uc010kba.3_Missense_Mutation_p.E893K	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	970						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTATCAGAGGGAAGATGGCTC	0.393000														56			11		0	0	0.002450	0	0
VPS13A	23230	broad.mit.edu	37	9	79936611	79936611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:79936611C>T	uc004akr.3	+	43	6039	c.5779C>T	c.(5779-5781)Cat>Tat	p.H1927Y	VPS13A_uc004akp.4_Missense_Mutation_p.H1927Y|VPS13A_uc004akq.4_Missense_Mutation_p.H1927Y|VPS13A_uc004aks.3_Missense_Mutation_p.H1888Y|VPS13A_uc004akt.3_Missense_Mutation_p.H267Y	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1927					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGACAATGATCATTTCAATGC	0.328000														34			10		0	0	0.008291	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508003	37508003	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:37508003G>A	uc021ppc.1	+	33	3294	c.3195G>A	c.(3193-3195)ctG>ctA	p.L1065L	ANKRD30A_uc001iza.1_Silent_p.L1065L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1121						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGCCACACTGAAACACCAAT	0.323000														39			12		0	0	0.000978	0	0
PLCD3	113026	broad.mit.edu	37	17	43196366	43196366	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:43196366G>A	uc002iib.3	-	4	843	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	243	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GGAACTCCTCGATCTCAGCCC	0.642000														7			5		0	0	0.001168	0	0
PTPN5	84867	broad.mit.edu	37	11	18754168	18754168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:18754168C>T	uc001mpd.3	-	11	1731	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	PTPN5_uc001mpb.3_Missense_Mutation_p.D402N|PTPN5_uc001mpc.3_Missense_Mutation_p.D434N|PTPN5_uc010rdj.2_Missense_Mutation_p.D378N|PTPN5_uc001mpf.3_Missense_Mutation_p.D410N|PTPN5_uc001mpe.3_Missense_Mutation_p.D402N|PTPN5_uc010rdk.2_Missense_Mutation_p.D379N	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	434	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGCCGGTAATCCTCCGTGTGA	0.587000											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			40		0	0	0.003214	0	0
COBLL1	22837	broad.mit.edu	37	2	165551054	165551054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:165551054G>A	uc002ucp.3	-	11	3184	c.2962C>T	c.(2962-2964)Ccc>Tcc	p.P988S	COBLL1_uc002ucq.3_Missense_Mutation_p.P950S|COBLL1_uc010zcw.2_Missense_Mutation_p.P1055S|COBLL1_uc010zcx.2_Missense_Mutation_p.P996S|COBLL1_uc002ucn.3_Missense_Mutation_p.P416S|COBLL1_uc002uco.3_Missense_Mutation_p.P719S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1026										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GGAGCTATGGGAGGAGGGGAG	0.463000														32			13		0	0	0.002450	0	0
DOPEY1	23033	broad.mit.edu	37	6	83834472	83834472	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:83834472C>T	uc011dyy.2	+	12	1622	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D	DOPEY1_uc003pjs.1_Silent_p.D463D|DOPEY1_uc010kbl.1_Silent_p.D454D	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	463					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATAGTAATGACTCATCTGAAT	0.368000														82			23		0	0	0.004656	0	0
GALNT14	79623	broad.mit.edu	37	2	31133921	31133921	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:31133921C>T	uc002rns.3	-	15	2160	c.1520G>A	c.(1519-1521)tGg>tAg	p.W507*	GALNT14_uc002rnq.3_Nonsense_Mutation_p.W482*|GALNT14_uc010ymr.2_Nonsense_Mutation_p.W467*|GALNT14_uc002rnr.3_Nonsense_Mutation_p.W502*	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	502	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGTTTTGGTCCATTGCTGGTA	0.493000														44			22		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179494052	179494052	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179494052C>T	uc021vsy.1	-	188	36921	c.36696G>A	c.(36694-36696)ggG>ggA	p.G12232G	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.G5927G|TTN_uc021vta.1_Silent_p.G5860G|TTN_uc021vtb.1_Silent_p.G5735G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13159							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)			CTAGTTTCTTCCCTTTGAGAT	0.478000														16			9		0	0	0.004482	0	0
ANGPT4	51378	broad.mit.edu	37	20	865741	865741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:865741C>T	uc002wei.3	-	3	918	c.815G>A	c.(814-816)aGg>aAg	p.R272K	ANGPT4_uc010zpn.2_Missense_Mutation_p.R266K	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	272					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGCGTTAGCCCTTTCTTGCAC	0.682000														13			3		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9072184	9072184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9072184C>T	uc002mkp.3	-	2	15466	c.15262G>A	c.(15262-15264)Gaa>Aaa	p.E5088K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5090	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCACAGGTTCCAAGCGTGTA	0.423000														89			33		0	0	0.004878	0	0
CPZ	8532	broad.mit.edu	37	4	8602878	8602878	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:8602878C>T	uc003glm.3	+	2	324	c.150C>T	c.(148-150)acC>acT	p.T50T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T39T|CPZ_uc003gln.3_5'UTR	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	50	FZ.				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.L48fs*58(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGCTCAGGACCTGCAGTGATG	0.632000														17			7		0	0	0.003080	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763835	110763835	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:110763835C>T	uc003puf.3	-	3	862	c.795G>A	c.(793-795)agG>agA	p.R265R	SLC22A16_uc003pue.3_Silent_p.R246R	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	265					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GCCACCAGGTCCTGACCAAGT	0.507000														57			20		0	0	0.002299	0	0
NDST3	9348	broad.mit.edu	37	4	119161732	119161732	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:119161732G>A	uc003ibx.3	+	10	2575	c.2172G>A	c.(2170-2172)gtG>gtA	p.V724V		NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	724	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCTACGAAGTGATCTCAGCAG	0.502000														24			16		0	0	0.004990	0	0
SLC30A8	169026	broad.mit.edu	37	8	118174004	118174004	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:118174004C>T	uc003yoh.3	+	4	830	c.600C>T	c.(598-600)tgC>tgT	p.C200C	SLC30A8_uc010mcz.3_Silent_p.C151C|SLC30A8_uc003yog.3_Silent_p.C151C|SLC30A8_uc011lia.2_Silent_p.C151C|SLC30A8_uc022bab.1_Silent_p.C151C|Metazoa_SRP_uc022bac.1_5'Flank	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	200					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.R199*(1)|p.R199T(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACCAGAGATGCCTTGGCCACA	0.443000														188			69		0	0	0.003610	0	0
CACNA1A	773	broad.mit.edu	37	19	13365981	13365981	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:13365981G>A	uc002mwy.3	-	28	4919	c.4683C>T	c.(4681-4683)ttC>ttT	p.F1561F	CACNA1A_uc002mwx.3_Silent_p.F267F|CACNA1A_uc010dzc.2_Silent_p.F1087F|CACNA1A_uc010xnd.2_Silent_p.F1564F|CACNA1A_uc021ups.1_Silent_p.F1561F|CACNA1A_uc010xne.2_Silent_p.F1564F|CACNA1A_uc010dze.2_Silent_p.F1561F|CACNA1A_uc021upt.1_Silent_p.F1562F|CACNA1A_uc002mwv.3_Silent_p.F78F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1562					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.F1562F(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAGACACCACGAACTGCCACA	0.587000														24			15		0	0	0.004007	0	0
KIF17	57576	broad.mit.edu	37	1	21014262	21014262	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:21014262G>A	uc001bdr.4	-	7	1675	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Silent_p.S519S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	519					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCGCAAACCTGGAGGAAACCT	0.542000														45			18		0	0	0.007413	0	0
EFR3A	23167	broad.mit.edu	37	8	132996524	132996524	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:132996524A>G	uc003yte.3	+	14	1918	c.1714A>G	c.(1714-1716)Att>Gtt	p.I572V		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	572						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TATTGATCTCATTCGACTGGC	0.348000														53			22		0	0	0.002780	0	0
MUSK	4593	broad.mit.edu	37	9	113496631	113496631	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:113496631C>T	uc022blv.1	+	5	863	c.729C>T	c.(727-729)atC>atT	p.I243I	MUSK_uc022blt.1_Silent_p.I243I|MUSK_uc004bez.2_Silent_p.I253I|MUSK_uc022blu.1_Silent_p.I243I	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	243	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCCCCACCATCACCTGGATTG	0.507000														49			27		0	0	0.008361	0	0
TCEA2	6919	broad.mit.edu	37	20	62699406	62699406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:62699406C>T	uc021wgq.1	+	3	904	c.248C>T	c.(247-249)tCc>tTc	p.S83F	TCEA2_uc021wgo.1_Non-coding_Transcript|TCEA2_uc021wgp.1_Missense_Mutation_p.S56F|TCEA2_uc010gku.2_Intron	NM_003195	NP_942016	Q15560	TCEA2_HUMAN	Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA.	83	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCAGATGCTTCCGATGCCAAA	0.647000														33			11		0	0	0.001855	0	0
RNF180	285671	broad.mit.edu	37	5	63509989	63509989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:63509989C>T	uc003jti.3	+	3	946	c.836C>T	c.(835-837)tCc>tTc	p.S279F	RNF180_uc003jth.4_Missense_Mutation_p.S279F|RNF180_uc010iws.3_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA.	279						integral to membrane|nuclear envelope	zinc ion binding	p.Y278N(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AATAGCTATTCCTTTCAGAAT	0.403000														41			15		0	0	0.006122	0	0
HM13	81502	broad.mit.edu	37	20	30142557	30142557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:30142557C>T	uc002wwc.3	+	7	847	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S	HM13_uc002wwd.3_Missense_Mutation_p.P245S|HM13_uc002wwe.3_Missense_Mutation_p.P245S|HM13_uc002wwf.3_Missense_Mutation_p.P121S	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	245					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGTGGTGTTTCCCCAGGATCT	0.532000														33			15		0	0	0.004007	0	0
DMXL1	1657	broad.mit.edu	37	5	118485868	118485868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:118485868C>T	uc010jcl.1	+	17	4527	c.4346C>T	c.(4345-4347)aCt>aTt	p.T1449I	DMXL1_uc003ksd.2_Missense_Mutation_p.T1449I|DMXL1_uc021ycw.1_Missense_Mutation_p.T1276I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1449										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTTTTCAGACTCAACTTCTA	0.338000														24			9		0	0	0.004482	0	0
PRDM8	56978	broad.mit.edu	37	4	81123399	81123399	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:81123399C>T	uc010ijo.3	+	7	1622	c.783C>T	c.(781-783)ttC>ttT	p.F261F	PRDM8_uc003hmb.4_Silent_p.F261F|PRDM8_uc003hmc.4_Silent_p.F261F	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	261	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCACAGACTTCCACAACCTGG	0.716000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			19		0	0	0.001882	0	0
ASXL3	80816	broad.mit.edu	37	18	31323549	31323549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:31323549C>T	uc010dmg.1	+	11	3792	c.3737C>T	c.(3736-3738)tCg>tTg	p.S1246L	ASXL3_uc002kxq.2_Missense_Mutation_p.S953L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTGCTATATCGGGAGCAATT	0.368000														35			8		0	0	0.004482	0	0
FCRL1	115350	broad.mit.edu	37	1	157771861	157771861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:157771861G>A	uc001frg.3	-	4	843	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.H244Y|FCRL1_uc001fri.3_Missense_Mutation_p.H244Y|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	244	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.H244N(3)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATATCCTCGTGATAAAACCAG	0.582000														28			13		0	0	0.001855	0	0
FLG2	388698	broad.mit.edu	37	1	152326877	152326877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152326877C>T	uc001ezw.4	-	2	3458	c.3385G>A	c.(3385-3387)Gga>Aga	p.G1129R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1129	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGTCCAAAGCCAGAA	0.522000														110			53		0	0	0.003610	0	0
TLR10	81793	broad.mit.edu	37	4	38775011	38775011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:38775011G>A	uc003gtj.3	-	3	2839	c.2201C>T	c.(2200-2202)cCa>cTa	p.P734L	TLR10_uc021xnk.1_Missense_Mutation_p.P720L|TLR10_uc003gti.3_Missense_Mutation_p.P734L|TLR10_uc021xnl.1_Missense_Mutation_p.P734L|TLR10_uc003gtk.3_Missense_Mutation_p.P734L|TLR10_uc021xnm.1_Missense_Mutation_p.P734L	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	734	TIR.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GCAATAGAATGGAATGGGTTC	0.403000														30			19		0	0	0.002780	0	0
AOC3	8639	broad.mit.edu	37	17	41006581	41006581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:41006581G>A	uc002ibv.3	+	1	1877	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	573					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGAGATGGAGGAGCAGGCCGC	0.657000														27			22		0	0	0.001882	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068513	103068513	+	Missense_Mutation	SNP	C	T	T	rs149244380	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:103068513C>T	uc002tbx.3	+	11	2156	c.1672C>T	c.(1672-1674)Cac>Tac	p.H558Y	IL18RAP_uc010fiz.3_Missense_Mutation_p.H416Y	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	558	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AATGCGCTACCACATGCCTGT	0.458000														76			46		0	0	0.003610	0	0
POM121	9883	broad.mit.edu	37	7	72413768	72413768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:72413768C>T	uc003twk.2	+	10	3236	c.3236C>T	c.(3235-3237)aCc>aTc	p.T1079I	POM121_uc003twj.3_Missense_Mutation_p.T814I|POM121_uc010lam.1_Missense_Mutation_p.T814I	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1079	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACCACCCAGACCGCCAGCAGC	0.672000														22			10		0	0	0.008291	0	0
CCDC111	201973	broad.mit.edu	37	4	185603437	185603437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:185603437C>T	uc003iwk.2	+	8	1476	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	CCDC111_uc003iwj.2_Missense_Mutation_p.P348L|CCDC111_uc003iwm.2_Missense_Mutation_p.P219L|CCDC111_uc003iwn.2_Intron	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA.	348					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		ACATGTGAGCCATCTCAGAAT	0.358000														18			5		0	0	0.001984	0	0
AKR1D1	6718	broad.mit.edu	37	7	137801379	137801379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:137801379C>T	uc003vtz.3	+	8	1039	c.952C>T	c.(952-954)Cct>Tct	p.P318S	AKR1D1_uc011kqf.2_Missense_Mutation_p.P277S|AKR1D1_uc011kqe.1_Missense_Mutation_p.S290F|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	318					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCGCGATCATCCTGAATACCC	0.448000														75			31		0	0	0.003271	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952555	16952555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrY:16952555C>T	uc011nas.1	+	6	2103	c.1924C>T	c.(1924-1926)Ccc>Tcc	p.P642S	NLGN4Y_uc004fte.2_Missense_Mutation_p.P454S|NLGN4Y_uc004ftg.2_Missense_Mutation_p.P622S|NLGN4Y_uc004ftf.2_Missense_Mutation_p.P315S|NLGN4Y_uc004fth.2_Missense_Mutation_p.P622S	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	622					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						GACATCATTTCCCTATGGCAC	0.483000														11			35		0	0	0.003214	0	0
HLA-C	3107	broad.mit.edu	37	6	31323234	31323234	+	Missense_Mutation	SNP	G	A	A	rs41557013		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:31323234G>A	uc003nth.2	-	3	809	c.755C>T	c.(754-756)aCt>aTt	p.T252I	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Missense_Mutation_p.T131I|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	252	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CACAAGCTCAGTGTCCTGAGT	0.577000														66			13		0	0	0.002450	0	0
MCTP1	79772	broad.mit.edu	37	5	94134766	94134766	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:94134766C>T	uc003kkx.2	-	17	2508	c.2508G>A	c.(2506-2508)tgG>tgA	p.W836*	MCTP1_uc003kkv.2_Nonsense_Mutation_p.W615*|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Nonsense_Mutation_p.W497*|MCTP1_uc003kku.2_Nonsense_Mutation_p.W352*	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	836					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGAAGTAGTTCCATGTCAATA	0.388000														19			6		0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9061224	9061224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9061224G>A	uc002mkp.3	-	2	26426	c.26222C>T	c.(26221-26223)tCc>tTc	p.S8741F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8743	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGTTCTGGAGACCTTAGT	0.483000														26			9		0	0	0.006214	0	0
OR4C13	283092	broad.mit.edu	37	11	49974138	49974138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:49974138C>T	uc010rhz.2	+	0	196	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S55S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCACTGAGATCCCCCATGTAC	0.428000														100			48		0	0	0.003610	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033105	20033105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:20033105G>A	uc002wrs.3	-	1	397	c.365C>T	c.(364-366)cCg>cTg	p.P122L	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.P110L	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	122					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AACCGGAAGCGGAACTTGCAG	0.597000														43			19		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179599705	179599705	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179599705G>A	uc021vsy.1	-	47	11439	c.11214C>T	c.(11212-11214)tcC>tcT	p.S3738S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S399S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4665							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)			TCTTCACGAAGGATGGTGGCT	0.423000														7			3		0	0	0.004672	0	0
SCN1A	6323	broad.mit.edu	37	2	166904164	166904164	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:166904164C>T	uc002udo.4	-	9	1370	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q	SCN1A_uc010fpk.3_Silent_p.Q381Q|SCN1A_uc021vsb.1_Silent_p.Q381Q	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	381						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCCAGAAGTCCTGAGTCATTA	0.358000														52			17		0	0	0.004007	0	0
CDH18	1016	broad.mit.edu	37	5	19483617	19483617	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:19483617T>C	uc003jgd.3	-	11	2209	c.1675A>G	c.(1675-1677)Act>Gct	p.T559A	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Missense_Mutation_p.T559A|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	559	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R558L(1)|p.R558Q(1)|p.R558*(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCTGAACAGTTCGACTAAAT	0.458000														12			5		0	0	0.000602	0	0
ERCC6	2074	broad.mit.edu	37	10	50666971	50666971	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:50666971A>G	uc001jhs.4	-	20	4526	c.4372T>C	c.(4372-4374)Tta>Cta	p.L1458L	ERCC6_uc009xod.3_Silent_p.L618L|ERCC6_uc010qgr.2_Silent_p.L828L|ERCC6_uc001jhr.4_Silent_p.L826L	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1458					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATGCAGATAACTTGGATTCA	0.478000								Direct reversal of damage;Nucleotide excision repair (NER)						44			15		0	0	0.003163	0	0
S100A2	6273	broad.mit.edu	37	1	153533975	153533975	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:153533975G>A	uc001fcb.3	-	2	572	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_005978	NP_005969	P29034	S10A2_HUMAN	Homo sapiens S100 calcium binding protein A2 (S100A2), mRNA.	79	EF-hand 2.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGTGCCAGGAAAACAGCAT	0.542000														100			23		0	0	0.003954	0	0
RALBP1	10928	broad.mit.edu	37	18	9533365	9533365	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:9533365C>T	uc002kob.3	+	7	1711	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L	RALBP1_uc002koc.3_Silent_p.L496L	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	496	Interacts with RalA.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						AGGAGGAGCTCCTGGCCATGG	0.468000														28			19		0	0	0.008871	0	0
CNTN6	27255	broad.mit.edu	37	3	1415290	1415290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:1415290C>T	uc003boz.3	+	14	2056	c.1789C>T	c.(1789-1791)Cca>Tca	p.P597S	CNTN6_uc011asj.2_Missense_Mutation_p.P525S|CNTN6_uc003bpa.3_Missense_Mutation_p.P597S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	597	Fibronectin type-III 1.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTTTCAAGGTCCACCAGGTCC	0.388000														28			9		0	0	0.004482	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382154	41382154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41382154G>A	uc003jmm.1	-	1	688	c.586C>T	c.(586-588)Cat>Tat	p.H196Y		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	196	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACTGGACTATGGTAGAAGACC	0.498000														51			19		0	0	0.006122	0	0
NCAN	1463	broad.mit.edu	37	19	19334879	19334879	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:19334879C>T	uc002nlz.3	+	3	624	c.525C>T	c.(523-525)ttC>ttT	p.F175F	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	175	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.F175L(2)|p.F189L(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CACTGACCTTCGCTGAGGCCC	0.577000														34			17		0	0	0.001882	0	0
ATP1A2	477	broad.mit.edu	37	1	160090788	160090788	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:160090788G>A	uc001fvc.3	+	1	237	c.105G>A	c.(103-105)aaG>aaA	p.K35K	ATP1A2_uc001fvb.2_Silent_p.K35K|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	35					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTGAAGAAGGAGGTGGCAA	0.607000														8			3		0	0	0.004672	0	0
LOXL3	84695	broad.mit.edu	37	2	74763204	74763204	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:74763204C>G	uc002smp.1	-	6	1239	c.1167G>C	c.(1165-1167)aaG>aaC	p.K389N	LOXL3_uc002smo.1_Missense_Mutation_p.K28N|LOXL3_uc010ffm.1_Missense_Mutation_p.K389N|LOXL3_uc002smq.1_Missense_Mutation_p.K244N|LOXL3_uc010ffn.1_Missense_Mutation_p.K244N	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	389	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTGTGATGTTCTTGTGGGGGC	0.567000														63			32		0	0	0.002445	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863794	192863794	+	Missense_Mutation	SNP	C	T	T	rs149067350		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:192863794C>T	uc002utc.3	-	5	1071	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	226	Kazal-like 2.					extracellular region|integral to membrane		p.R226*(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACCTTGACATCGACCCAAAGA	0.368000														51			16		0	0	0.004990	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152215	11152215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:11152215C>T	uc010dxp.3	+	30	4763	c.4403C>T	c.(4402-4404)gCc>gTc	p.A1468V	SMARCA4_uc010dxo.3_Missense_Mutation_p.A1500V|SMARCA4_uc002mqf.4_Missense_Mutation_p.A1468V|SMARCA4_uc010dxq.3_Missense_Mutation_p.A1435V|SMARCA4_uc010dxr.3_Missense_Mutation_p.A1435V|SMARCA4_uc002mqj.4_Missense_Mutation_p.A1438V|SMARCA4_uc010dxs.3_Missense_Mutation_p.A1438V|SMARCA4_uc002mqh.4_Missense_Mutation_p.A558V	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1468					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATTGTGGATGCCGTGATCAAG	0.612000			"""F, N, Mis"""		NSCLC									22			11		0	0	0.001855	0	0
CDCA2	157313	broad.mit.edu	37	8	25343351	25343351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:25343351C>T	uc003xep.1	+	10	1919	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S481L|CDCA2_uc003xeq.1_Missense_Mutation_p.S466L|CDCA2_uc003xer.1_Missense_Mutation_p.S144L	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	481					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAGACCCTTTCAGGTAGTAAC	0.279000														18			8		0	0	0.004482	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202658	140202658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140202658C>T	uc003lhl.2	+	0	1298	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S433L|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S433L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	448	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.637000														90			36		0	0	0.005524	0	0
SEC62	7095	broad.mit.edu	37	3	169710486	169710486	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:169710486A>G	uc003fgg.3	+	7	866	c.835A>G	c.(835-837)Agg>Ggg	p.R279G	SEC62_uc003fgh.3_Missense_Mutation_p.R279G	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	279					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TGACTCCTTCAGGCCTCTGTA	0.423000														49			22		0	0	0.003330	0	0
NBEA	26960	broad.mit.edu	37	13	35733774	35733774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:35733774G>A	uc021rid.1	+	21	4000	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	NBEA_uc021ric.1_Missense_Mutation_p.E1156K|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1156						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAAACAGGAGGAAAAACTACT	0.358000														10			3		0	0	0.004672	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895344	45895345	+	Missense_Mutation	DNP	GG	AA	AA	rs141349857		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:45895344_45895345GG>AA	uc002pbn.3	-	7	1685_1686	c.1608_1609CC>TT	c.(1606-1611)ccccct>ccTTct	p.P537S	PPP1R13L_uc002pbm.3_Missense_Mutation_p.P116S|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P537S	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	537	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTGTGGGTAGGGGGCAGGGCCA	0.683000														43			25		0	0	0.004672	0	0
DNAH10	196385	broad.mit.edu	37	12	124303737	124303737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:124303737G>A	uc001uft.4	+	21	3611	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1196	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGATAGAGGAGTTTGCAAA	0.393000														12			5		0	0	0.000602	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651847	84651847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:84651847G>A	uc002bjz.4	+	20	3691	c.3467G>A	c.(3466-3468)gGg>gAg	p.G1156E	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1156E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1156						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGGAAACAGGGAGTGTGTCC	0.547000														14			13		0	0	0.001368	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025448	16025448	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16025448C>T	uc002nbu.2	-	10	1314	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	CYP4F11_uc010eab.1_Intron|CYP4F11_uc002nbt.2_Silent_p.G426G	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	426					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTAATGGATCCCGATAATAT	0.572000														41			28		0	0	0.009535	0	0
FAM82A1	151393	broad.mit.edu	37	2	38178549	38178549	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:38178549T>C	uc002rqn.2	+	1	317	c.191T>C	c.(190-192)tTa>tCa	p.L64S	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						AGTAGAAGGTTATTATCTGTA	0.358000														33			14		0	0	0.002450	0	0
DUSP27	92235	broad.mit.edu	37	1	167097024	167097024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:167097024G>A	uc001geb.1	+	4	2672	c.2656G>A	c.(2656-2658)Gat>Aat	p.D886N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	886					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.D886V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGTGATGGGGATGAGGACAC	0.498000														25			14		0	0	0.004007	0	0
STAB2	55576	broad.mit.edu	37	12	104102255	104102255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:104102255C>T	uc001tjw.3	+	38	4415	c.4229C>T	c.(4228-4230)cCc>cTc	p.P1410L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1410					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACCAAGGACCCTTGGGAGAT	0.458000														63			32		0	0	0.003271	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537059	65537059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:65537059G>A	uc003xvj.2	-	1	364	c.160C>T	c.(160-162)Cct>Tct	p.P54S		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	54					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CCAAGATAAGGAAGCCAACCT	0.378000														61			17		0	0	0.008871	0	0
MICAL3	57553	broad.mit.edu	37	22	18300481	18300481	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:18300481G>T	uc002zng.4	-	25	5299	c.4946C>A	c.(4945-4947)tCc>tAc	p.S1649Y	MICAL3_uc011agl.2_Missense_Mutation_p.S1565Y|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1649						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCGTGTGGGGGAGTCAGGCCG	0.711000														17			9		1.33987e-11	1.36973e-11	0.008291	1	0
OR2M5	127059	broad.mit.edu	37	1	248308892	248308892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:248308892C>T	uc010pze.2	+	0	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACTGCCTTCTCCTGGATCCTG	0.458000														137			40		0	0	0.006230	0	0
LGMN	5641	broad.mit.edu	37	14	93178215	93178216	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:93178215_93178216CC>TT	uc001yav.3	-	9	1056_1057	c.695_696GG>AA	c.(694-696)tgg>tAA	p.W232*	LGMN_uc001yat.3_Nonsense_Mutation_p.W232*|LGMN_uc001yau.3_Nonsense_Mutation_p.W232*|LGMN_uc001yaw.3_Nonsense_Mutation_p.W232*	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	232					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		TGACGCTGTACCAGTCCCCCAG	0.525000														22			15		0	0	0.004672	0	0
PTGS1	5742	broad.mit.edu	37	9	125152608	125152608	+	Silent	SNP	C	T	T	rs3842800	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:125152608C>T	uc004bmg.1	+	9	1563	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	PTGS1_uc011lys.1_Silent_p.S414S|PTGS1_uc010mwb.1_Silent_p.S330S|PTGS1_uc004bmf.1_Silent_p.S439S|PTGS1_uc004bmh.1_Silent_p.S367S|PTGS1_uc011lyt.1_Silent_p.S367S	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	476					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CCTACACCTCCTTCCAGGAGC	0.557000														23			7		0	0	0.003080	0	0
BCL11A	53335	broad.mit.edu	37	2	60688266	60688266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:60688266G>A	uc002sae.1	-	3	2009	c.1781C>T	c.(1780-1782)tCg>tTg	p.S594L	BCL11A_uc002sab.3_Missense_Mutation_p.S594L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.S263L|BCL11A_uc010ypj.2_Missense_Mutation_p.S560L|BCL11A_uc002sad.1_Missense_Mutation_p.S442L|BCL11A_uc002saf.1_Missense_Mutation_p.S560L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	594					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TATGCGGTCCGACTCGCCGGC	0.692000			T	IGH@	B-CLL									108			55		0	0	0.003610	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115627	47115627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:47115627C>T	uc002iom.3	+	5	833	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	167					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGAATGGGCGCCGAGGGGG	0.637000														53			13		0	0	0.004007	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814062	106814062	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:106814062C>T	uc003ymd.3	+	7	1775	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ZFPM2_uc011lhs.2_Silent_p.F315F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	584					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCCAGAGTTCCCTAGTGTGT	0.443000														78			42		0	0	0.003610	0	0
CDCA7L	55536	broad.mit.edu	37	7	21942684	21942684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:21942684G>A	uc010kuk.3	-	8	1366	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	CDCA7L_uc003sve.4_Missense_Mutation_p.R382W|CDCA7L_uc010kul.3_Missense_Mutation_p.R370W|CDCA7L_uc003svf.4_Missense_Mutation_p.R415W	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	416					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		p.R416L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCACGCTTCCGACAGTAGCTG	0.493000														18			9		0	0	0.004482	0	0
VPS13A	23230	broad.mit.edu	37	9	79933473	79933473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:79933473C>T	uc004akr.3	+	40	5539	c.5279C>T	c.(5278-5280)tCc>tTc	p.S1760F	VPS13A_uc004akp.4_Missense_Mutation_p.S1760F|VPS13A_uc004akq.4_Missense_Mutation_p.S1760F|VPS13A_uc004aks.3_Missense_Mutation_p.S1721F|VPS13A_uc004akt.3_Missense_Mutation_p.S100F|VPS13A_uc010mpo.1_Missense_Mutation_p.S356F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1760					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AACTGGAGTTCCCTAATAAAT	0.358000														19			8		0	0	0.003080	0	0
OR2M5	127059	broad.mit.edu	37	1	248308834	248308834	+	Missense_Mutation	SNP	C	T	T	rs150844237		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:248308834C>T	uc010pze.2	+	0	385	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P129H(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATTTGCCACCCTCTAAGATA	0.443000														160			46		0	0	0.003610	0	0
OR13G1	441933	broad.mit.edu	37	1	247835886	247835886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:247835886G>A	uc001idi.1	-	0	458	c.458C>T	c.(457-459)tCc>tTc	p.S153F		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGCACCCAGGAATTGGTGAC	0.463000														31			9		0	0	0.004482	0	0
KIAA0564	23078	broad.mit.edu	37	13	42393512	42393512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:42393512G>A	uc001uyj.3	-	14	1781	c.1711C>T	c.(1711-1713)Cct>Tct	p.P571S	KIAA0564_uc001uyk.3_Missense_Mutation_p.P571S	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	571						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GGATGGATAGGAAAAATGGAT	0.388000														21			8		0	0	0.003080	0	0
KRT82	3888	broad.mit.edu	37	12	52799831	52799831	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:52799831G>A	uc001sai.1	-	0	346	c.231C>T	c.(229-231)ggC>ggT	p.G77G		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	77	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGTACCCGAAGCCAGGCAGGG	0.657000														26			15		0	0	0.002450	0	0
ARMC4	55130	broad.mit.edu	37	10	28272855	28272855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:28272855C>T	uc009xky.3	-	5	834	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.E246K|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	246							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAACAAATTTCCCCACGAATT	0.393000														20			12		0	0	0.001368	0	0
ZNF799	90576	broad.mit.edu	37	19	12502345	12502346	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:12502345_12502346GG>AA	uc010dyt.3	-	3	1070_1071	c.866_867CC>TT	c.(865-867)gcc>gTT	p.A289V	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAGCACTGAAGGCTTTCCCACA	0.426000														54			24		0	0	0.004672	0	0
TUBG1	7283	broad.mit.edu	37	17	40766579	40766579	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:40766579C>T	uc002ian.3	+	9	1460	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	354					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GGGGCCCCGCCAGCATCCAGG	0.647000														35			25		0	0	0.008361	0	0
KCNT2	343450	broad.mit.edu	37	1	196438156	196438156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:196438156C>T	uc001gtd.1	-	5	487	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Missense_Mutation_p.E143K|KCNT2_uc001gtf.1_Missense_Mutation_p.E143K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E143K|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	143						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTAATTATTTCCAAGATGAAG	0.313000														8			5		0	0	0.001984	0	0
FGD1	2245	broad.mit.edu	37	X	54496550	54496550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:54496550C>T	uc004dtg.3	-	3	1734	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	FGD1_uc011moi.1_Missense_Mutation_p.E92K	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	334					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGTCAACCTCTTGGGAGCCA	0.647000														4			12		0	0	0.001855	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189660	58189660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:58189660C>T	uc002qpu.3	+	4	1386	c.689C>T	c.(688-690)cCt>cTt	p.P230L		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	230					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTCCTAGGCCTGAAGAGGGA	0.408000														11			4		0	0	0.000602	0	0
ENPP6	133121	broad.mit.edu	37	4	185038029	185038029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:185038029C>T	uc003iwc.3	-	4	977	c.835G>A	c.(835-837)Gcc>Acc	p.A279T		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	279					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTCCCAGGGGCCGGCCAAAGG	0.562000														64			9		0	0	0.006214	0	0
FOXH1	8928	broad.mit.edu	37	8	145700562	145700562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:145700562G>A	uc003zdc.3	-	1	836	c.257C>T	c.(256-258)tCc>tTc	p.S86F		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	86					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|R-SMAD binding|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCGGTTGGAGGAAAGGTTGTG	0.652000														15			13		0	0	0.004007	0	0
KIF21B	23046	broad.mit.edu	37	1	200969850	200969850	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:200969850C>T	uc001gvs.2	-	9	1778	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	KIF21B_uc009wzl.2_Silent_p.E487E|KIF21B_uc001gvr.2_Silent_p.E487E|KIF21B_uc010ppn.2_Silent_p.E487E	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	487					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E486K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCACCGTAGCTCCTCGATCT	0.637000														31			23		0	0	0.001882	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711613	155711613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:155711613G>A	uc002tyv.1	+	2	1489	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	432					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAGCTTGGGAGACTTGCCCAT	0.413000														47			16		0	0	0.004990	0	0
MYF5	4617	broad.mit.edu	37	12	81111175	81111175	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:81111175G>A	uc001szg.2	+	0	468	c.333G>A	c.(331-333)acG>acA	p.T111T		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	111	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGTGTACCACGACCAACCCCA	0.592000														37			14		0	0	0.002450	0	0
DPYD	1806	broad.mit.edu	37	1	98164976	98164976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:98164976G>A	uc001drv.3	-	5	748	c.611C>T	c.(610-612)tCc>tTc	p.S204F	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	204					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGCCAAAAAGGAAGCACAACT	0.393000														39			18		0	0	0.004990	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148968090	148968090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:148968090G>A	uc003ilf.3	+	19	1915	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	ARHGAP10_uc003ilg.3_Missense_Mutation_p.D288N|ARHGAP10_uc003ilh.3_Missense_Mutation_p.D220N|ARHGAP10_uc003ili.3_Missense_Mutation_p.D72N	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	639					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAGCAGTCTGGACTCACTTTC	0.507000														47			17		0	0	0.007413	0	0
PGBD5	79605	broad.mit.edu	37	1	230461093	230461093	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:230461093G>C	uc010pwb.2	-	5	1159	c.1135C>G	c.(1135-1137)Ctg>Gtg	p.L379V		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	379						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		ATGTAGCTCAGGTGAGCGGCA	0.537000														117			55		0	0	0.003610	0	0
LTBP1	4052	broad.mit.edu	37	2	33525604	33525604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:33525604G>A	uc021vft.1	+	20	3345	c.3322G>A	c.(3322-3324)Ggg>Agg	p.G1108R	LTBP1_uc002rou.3_Missense_Mutation_p.G782R|LTBP1_uc002rov.3_Missense_Mutation_p.G729R|LTBP1_uc010ymz.2_Missense_Mutation_p.G782R|LTBP1_uc010yna.2_Missense_Mutation_p.G729R|LTBP1_uc010ynb.2_Missense_Mutation_p.G48R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1108	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGTGGACAGGGGTACCAGCT	0.468000														25			8		0	0	0.006214	0	0
TRIML2	205860	broad.mit.edu	37	4	189026057	189026057	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:189026057C>T	uc011cle.1	-	1	441	c.219G>A	c.(217-219)tcG>tcA	p.S73S	TRIML2_uc003izl.2_Silent_p.S23S|TRIML2_uc011clf.1_Silent_p.S73S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	23							ligase activity	p.S23S(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GTTTCTCCCTCGATGTGTTCA	0.403000														41			20		0	0	0.008871	0	0
COL17A1	1308	broad.mit.edu	37	10	105815664	105815664	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:105815664C>A	uc001kxr.3	-	17	1732	c.1563G>T	c.(1561-1563)aaG>aaT	p.K521N	COL17A1_uc010qqv.1_Missense_Mutation_p.K505N	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	521	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGGCGGTCCTTTTCTATTC	0.592000														50			18		3.99206e-14	4.08653e-14	0.007413	1	0
SLC13A1	6561	broad.mit.edu	37	7	122821054	122821054	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:122821054G>A	uc003vkm.3	-	1	226	c.201C>T	c.(199-201)ccC>ccT	p.P67P	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	67						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TCCCAAACATGGGTAACATTA	0.403000														23			9		0	0	0.006214	0	0
PCDH18	54510	broad.mit.edu	37	4	138451647	138451647	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:138451647G>A	uc003ihe.4	-	0	1983	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	PCDH18_uc003ihf.4_Silent_p.I525I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.I312I|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	532	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATGATCAAAGATTCTGAGGG	0.423000														61			22		0	0	0.003330	0	0
NLRC5	84166	broad.mit.edu	37	16	57060009	57060009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:57060009C>T	uc021tiu.1	+	4	1281	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	NLRC5_uc021tit.1_Missense_Mutation_p.S385L|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.S190L|NLRC5_uc021tiw.1_Missense_Mutation_p.S190L|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	385	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCCAGCCATCGCGGGAGGGG	0.612000														103			35		0	0	0.005524	0	0
ZNF676	163223	broad.mit.edu	37	19	22362968	22362968	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:22362968G>A	uc002nqs.1	-	2	1869	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAGGATCGAGGACCAGCTGA	0.403000														25			8		0	0	0.003080	0	0
ABCA12	26154	broad.mit.edu	37	2	215845258	215845258	+	Silent	SNP	G	A	A	rs138177557	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:215845258G>A	uc002vew.3	-	30	4909	c.4689C>T	c.(4687-4689)taC>taT	p.Y1563Y	ABCA12_uc002vev.3_Silent_p.Y1245Y|ABCA12_uc010zjn.2_Silent_p.Y490Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1563	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCCTTGAGGTAAAATGGGG	0.493000														45			23		0	0	0.002299	0	0
GPR116	221395	broad.mit.edu	37	6	46847735	46847735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:46847735C>T	uc003oyo.3	-	8	1145	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G286R|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Missense_Mutation_p.G286R	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	286	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACTGTGTCCCCTTCAAAGATG	0.408000														41			15		0	0	0.002450	0	0
APOB	338	broad.mit.edu	37	2	21234537	21234537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:21234537C>T	uc002red.3	-	25	5331	c.5203G>A	c.(5203-5205)Gga>Aga	p.G1735R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1735					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCTTAAGTCCTTCTTGACTG	0.443000														392			211		0	0	0.003610	0	0
DBX2	440097	broad.mit.edu	37	12	45429837	45429837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:45429837G>A	uc001rok.1	-	1	636	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		gcgccgacaggacccaccgca	0.478000														10			7		0	0	0.001984	0	0
OR4N5	390437	broad.mit.edu	37	14	20612336	20612336	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20612336C>T	uc010tla.2	+	0	442	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATCGTTGGTTCTGTGGCTTGG	0.493000														98			41		0	0	0.003610	0	0
CPZ	8532	broad.mit.edu	37	4	8613827	8613827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:8613827G>A	uc003glm.3	+	7	1475	c.1301G>A	c.(1300-1302)gGa>gAa	p.G434E	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.G423E|CPZ_uc003gln.3_Missense_Mutation_p.G297E	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	434					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATAGGTGTGGAGGCAATTTC	0.597000														21			9		0	0	0.006214	0	0
NLRP7	199713	broad.mit.edu	37	19	55450858	55450858	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:55450858G>A	uc002qih.4	-	3	1405	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	NLRP7_uc010esk.3_Silent_p.S443S|NLRP7_uc002qig.4_Silent_p.S443S|NLRP7_uc002qii.4_Silent_p.S443S|NLRP7_uc010esl.3_Silent_p.S471S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	443	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GACGGAGGTCGGACTCCTGCA	0.642000														33			9		0	0	0.006214	0	0
NRXN3	9369	broad.mit.edu	37	14	79454459	79454459	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:79454459T>C	uc001xun.3	+	11	2609	c.2118T>C	c.(2116-2118)tcT>tcC	p.S706S	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.S831S	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane		p.T705T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTATGACCTCTTATTCTGGAA	0.443000														29			19		0	0	0.002780	0	0
INTU	27152	broad.mit.edu	37	4	128627808	128627808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:128627808C>T	uc003ifk.2	+	11	2058	c.1955C>T	c.(1954-1956)cCc>cTc	p.P652L	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	652										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTCCAGTCCCCTGTTTGTCT	0.458000														55			29		0	0	0.006320	0	0
MLH3	27030	broad.mit.edu	37	14	75515207	75515207	+	Silent	SNP	G	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:75515207G>C	uc001xrd.1	-	1	1368	c.1152C>G	c.(1150-1152)tcC>tcG	p.S384S	MLH3_uc001xre.1_Silent_p.S384S|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	384					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TCCTCTCATCGGAAGTCACAC	0.328000								Mismatch excision repair (MMR)						20			6		0	0	0.001168	0	0
RPS11	6205	broad.mit.edu	37	19	50000830	50000830	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:50000830C>T	uc002pob.1	+	2	281	c.201C>T	c.(199-201)tcC>tcT	p.S67S	SNORD35B_uc002poc.3_5'Flank	NM_001015	NP_001006	P62280	RS11_HUMAN	Homo sapiens ribosomal protein S11 (RPS11), mRNA.	67					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GTAATGTGTCCATTCGAGGGC	0.542000														41			13		0	0	0.001855	0	0
PRSS3	5646	broad.mit.edu	37	9	33798597	33798597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:33798597G>A	uc003ztj.4	+	3	790	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PRSS3_uc003zti.4_Missense_Mutation_p.E204K|PRSS3_uc022bfu.1_Missense_Mutation_p.E183K|PRSS3_uc003ztl.4_Missense_Mutation_p.E190K	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	247	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GGGCTTCCTTGAGGGAGGCAA	0.562000														171			8		0	0	0.002450	0	0
SMC5	23137	broad.mit.edu	37	9	72965375	72965375	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:72965375C>T	uc004ahr.2	+	23	3270	c.3153C>T	c.(3151-3153)ttC>ttT	p.F1051F	SMC5_uc011lry.1_Silent_p.F196F	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	1051					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AATACTTTTTCATAACACCAA	0.348000														29			14		0	0	0.002450	0	0
ZNF300	91975	broad.mit.edu	37	5	150276037	150276037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:150276037G>A	uc021yfx.1	-	6	1240	c.812C>T	c.(811-813)tCc>tTc	p.S271F	ZNF300_uc021yfy.1_Missense_Mutation_p.S255F|ZNF300_uc021yfz.1_Missense_Mutation_p.S219F	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGAATAAGGGATTGTGTATT	0.353000														48			20		0	0	0.007413	0	0
CPNE1	8904	broad.mit.edu	37	20	34215288	34215288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:34215288G>A	uc010zvj.2	-	13	1532	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	CPNE1_uc002xde.3_Missense_Mutation_p.R360C|CPNE1_uc002xdf.3_Missense_Mutation_p.R384C|CPNE1_uc002xdi.3_Missense_Mutation_p.R384C|CPNE1_uc002xdj.3_Missense_Mutation_p.R384C|CPNE1_uc002xdl.3_Missense_Mutation_p.R384C|CPNE1_uc002xdm.3_Missense_Mutation_p.R384C	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	384	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	p.R384C(2)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCATAGAGGCGAACTTGGGGC	0.577000														35			22		0	0	0.005443	0	0
DBH	1621	broad.mit.edu	37	9	136508610	136508610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:136508610G>A	uc004cel.3	+	3	829	c.820G>A	c.(820-822)Gac>Aac	p.D274N		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	274					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCCCGAGATGGACAGCGTCCC	0.652000														50			22		0	0	0.002780	0	0
PLCE1	51196	broad.mit.edu	37	10	95791437	95791437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:95791437G>A	uc001kjk.3	+	1	1268	c.634G>A	c.(634-636)Gat>Aat	p.D212N	PLCE1_uc010qnx.2_Missense_Mutation_p.D212N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	212					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	p.D212N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTTTAGACGATTGTGGAAA	0.388000														16			8		0	0	0.004482	0	0
TNC	3371	broad.mit.edu	37	9	117808821	117808821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:117808821C>T	uc004bjj.4	-	16	5405	c.4993G>A	c.(4993-4995)Gaa>Aaa	p.E1665K	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Missense_Mutation_p.E1302K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1665	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGGGTTATTTCCAGTGGCTCA	0.478000														60			29		0	0	0.008361	0	0
PTDSS1	9791	broad.mit.edu	37	8	97332525	97332525	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:97332525C>T	uc003yht.1	+	9	1227	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	PTDSS1_uc003yhu.1_Silent_p.L229L	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	375					phosphatidylserine biosynthetic process	integral to membrane	transferase activity	p.D374N(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GACAAGATCTCTTCTCTAAGA	0.398000														74			20		0	0	0.008871	0	0
CCL4L2	388372	broad.mit.edu	37	17	34539888	34539888	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:34539888C>T	uc010cuj.3	+	2	272	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	CCL4L2_uc002hlh.1_Intron|CCL4L2_uc002hlj.1_Intron|CCL4L2_uc002hli.1_Non-coding_Transcript|CCL4L2_uc010cuk.1_Non-coding_Transcript	NM_207007	NP_996890	Q8NHW4	CC4L_HUMAN	Homo sapiens chemokine (C-C motif) ligand 4-like 2 (CCL4L2), mRNA.	66					chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTACGGATTCCAAACCAAAAG	0.522000														17			16		0	0	0.006122	0	0
FAT4	79633	broad.mit.edu	37	4	126372253	126372253	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:126372253T>G	uc003ifj.4	+	8	10082	c.10082T>G	c.(10081-10083)cTt>cGt	p.L3361R	FAT4_uc011cgp.2_Missense_Mutation_p.L1659R|FAT4_uc003ifi.1_Missense_Mutation_p.L839R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3361	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L3361V(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTGGAATTCTTGATCGAGAA	0.403000														63			27		0	0	0.007291	0	0
APBA1	320	broad.mit.edu	37	9	72047517	72047517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:72047517C>T	uc004ahh.2	-	11	2653	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	793	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACGCTCTGTCCATTGATTTCA	0.592000														43			16		0	0	0.003163	0	0
NPY2R	4887	broad.mit.edu	37	4	156135434	156135434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:156135434G>A	uc003ioq.3	+	1	832	c.343G>A	c.(343-345)Gag>Aag	p.E115K	NPY2R_uc003ior.3_Missense_Mutation_p.E115K|NPY2R_uc021xtm.1_Missense_Mutation_p.E115K	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	115					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTAATGGGGGAGTGGAAAAT	0.512000														41			12		0	0	0.004007	0	0
TATDN2	9797	broad.mit.edu	37	3	10320110	10320110	+	Silent	SNP	C	T	T	rs146507538	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:10320110C>T	uc011atr.2	+	5	2690	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	TATDN2_uc003bvg.2_Silent_p.I703I|TATDN2_uc003bvf.3_Silent_p.I703I|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript|TATDN2_uc011atu.1_5'Flank|TATDN2_uc011atv.1_5'Flank|TATDN2_uc011atw.1_5'Flank|TATDN2_uc011auf.2_5'Flank|TATDN2_uc011aug.2_5'Flank|TATDN2_uc011atx.2_5'Flank|TATDN2_uc011aty.2_5'Flank|TATDN2_uc011atz.2_5'Flank|TATDN2_uc011aua.2_5'Flank|TATDN2_uc010hdl.3_5'Flank|TATDN2_uc011aub.2_5'Flank|TATDN2_uc010hdm.3_5'Flank|TATDN2_uc011auc.2_5'Flank|TATDN2_uc011aud.2_5'Flank|TATDN2_uc011aue.2_5'Flank	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	703						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGAGAATCATCGTGGAAACGG	0.607000														135			63		0	0	0.003610	0	0
C5AR1	728	broad.mit.edu	37	19	47823062	47823062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:47823062G>A	uc002pgj.1	+	1	77	c.28G>A	c.(28-30)Gat>Aat	p.D10N		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	10					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TACCACCCCTGATTATGGGCA	0.532000														39			16		0	0	0.004990	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565132	20565132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:20565132G>A	uc002dhj.4	-	5	917	c.707C>T	c.(706-708)tCg>tTg	p.S236L	ACSM2B_uc002dhk.4_Missense_Mutation_p.S236L|ACSM2B_uc010bwf.1_Missense_Mutation_p.S236L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	236					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCCCAGGCTCGAGTAGGAATG	0.507000														45			23		0	0	0.003954	0	0
RYR1	6261	broad.mit.edu	37	19	38976641	38976641	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:38976641C>T	uc002oit.3	+	33	5476	c.5346C>T	c.(5344-5346)ttC>ttT	p.F1782F	RYR1_uc002oiu.3_Silent_p.F1782F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1782	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCCCTGTTTCGTGGCCGCTC	0.682000														22			12		0	0	0.000978	0	0
ITPR1	3708	broad.mit.edu	37	3	4706914	4706914	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:4706914C>T	uc003bqc.3	+	15	1952	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	ITPR1_uc021wsi.1_Silent_p.F549F|ITPR1_uc021wsj.1_Silent_p.F534F|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	549					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACGCTCCTTTCAGACACATCT	0.537000														35			11		0	0	0.008291	0	0
INMT	11185	broad.mit.edu	37	7	30791851	30791851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:30791851G>A	uc003tbs.1	+	0	101	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Missense_Mutation_p.G29S	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	29						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CAGCTTCGATGGCAGCCCCTC	0.567000														65			27		0	0	0.004656	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465742	24465742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:24465742C>T	uc010tcw.2	-	2	708	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Intron|C1QTNF9B-AS1_uc009zzx.3_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.E230K	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	230	C1q.					collagen		p.E230K(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TGGTTGAATTCATTATACAGG	0.428000														15			4		0	0	0.001984	0	0
OR4A16	81327	broad.mit.edu	37	11	55111335	55111335	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:55111335T>C	uc010rie.2	+	0	659	c.659T>C	c.(658-660)cTa>cCa	p.L220P		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGAGTCATCCTAAACTTCCTT	0.438000														62			21		0	0	0.002780	0	0
PRKDC	5591	broad.mit.edu	37	8	48749810	48749810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:48749810G>A	uc003xqi.3	-	57	7778	c.7721C>T	c.(7720-7722)cCc>cTc	p.P2574L	PRKDC_uc003xqj.3_Missense_Mutation_p.P2574L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2575	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCGAACATGGGGTTTGGATA	0.373000								Non-homologous end-joining						11			9		0	0	0.004482	0	0
ATP9B	374868	broad.mit.edu	37	18	77108142	77108142	+	Missense_Mutation	SNP	C	T	T	rs141754612		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:77108142C>T	uc002lmx.3	+	24	2863	c.2849C>T	c.(2848-2850)tCc>tTc	p.S950F	ATP9B_uc002lmw.1_Missense_Mutation_p.S950F|ATP9B_uc002lmz.1_Missense_Mutation_p.S644F|ATP9B_uc002lna.3_Intron|ATP9B_uc002lnb.1_Intron|ATP9B_uc010drb.3_Non-coding_Transcript	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	950					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGTGTTTTCCTCAGTCTTC	0.557000														58			23		0	0	0.003954	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187388	32187388	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32187388G>A	uc003obb.3	-	7	1630	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.F497F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	497	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGCAGTGGAAGGTGGCAA	0.602000														222			59		0	0	0.003610	0	0
GRK5	2869	broad.mit.edu	37	10	121196334	121196334	+	Missense_Mutation	SNP	C	T	T	rs145397190	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:121196334C>T	uc001led.3	+	8	1143	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	GRK5_uc009xzh.3_Missense_Mutation_p.R199C|GRK5_uc010qta.1_Missense_Mutation_p.R199C	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	304	Protein kinase.		R -> H (in dbSNP:rs2230349).		G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		AGACCTCCACCGTGAGAACAC	0.597000														9			8		0	0	0.003080	0	0
OR2D3	120775	broad.mit.edu	37	11	6942260	6942260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:6942260G>A	uc010rav.2	+	0	28	c.28G>A	c.(28-30)Ggt>Agt	p.G10S		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T9K(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGCCAAACAGGTAAACAGGC	0.398000														24			6		0	0	0.001168	0	0
VN1R2	317701	broad.mit.edu	37	19	53762620	53762620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:53762620C>T	uc002qbi.2	+	0	1076	c.992C>T	c.(991-993)tCc>tTc	p.S331F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	331					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TACGCCCTTTCCTTCATCACC	0.448000														92			32		0	0	0.002096	0	0
NPAS4	266743	broad.mit.edu	37	11	66191166	66191166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:66191166C>T	uc001ohx.1	+	5	1102	c.926C>T	c.(925-927)gCc>gTc	p.A309V	NPAS4_uc010rpc.1_Missense_Mutation_p.A99V	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	309	PAC.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.A309G(2)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCATTACTGCCAATAACTAC	0.532000														42			12		0	0	0.000978	0	0
BRD2	6046	broad.mit.edu	37	6	32944031	32944031	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32944031C>T	uc010juh.3	+	4	1919	c.615C>T	c.(613-615)ctC>ctT	p.L205L	BRD2_uc003ocn.4_Silent_p.L205L|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Silent_p.L85L|BRD2_uc003ocq.4_Silent_p.L205L|BRD2_uc021ywf.1_Silent_p.L158L	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	205					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TTCTAGCGCTCCAGGGCAGTG	0.502000														35			12		0	0	0.000978	0	0
CNTD2	79935	broad.mit.edu	37	19	40732416	40732416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:40732416G>A	uc010xvi.2	-	0	182	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	CNTD2_uc002ond.3_Non-coding_Transcript	NM_024877	NP_079153	B4DX65	B4DX65_HUMAN	Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA.	45					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						AAGCCGTCGGGGACTGCGGCG	0.731000														16			9		0	0	0.008291	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765916	18765916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:18765916G>A	uc010exr.3	-	3	705	c.593C>T	c.(592-594)tCc>tTc	p.S198F	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.S256F|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.S196F|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.S256F|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.S239F|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.S273F|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.S258F|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.S196F|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.S48F	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	256	Pro-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CAGCTGGGTGGAGGCGGGGTA	0.657000														14			6		0	0	0.003080	0	0
OBSCN	84033	broad.mit.edu	37	1	228538555	228538555	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:228538555C>T	uc009xez.1	+	76	18374	c.18330C>T	c.(18328-18330)ttC>ttT	p.F6110F	OBSCN_uc001hsn.3_Silent_p.F6110F|OBSCN_uc001hsr.1_Silent_p.F739F|OBSCN_uc009xfa.3_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6110	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.F6692F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCACGGTTCGTGAACAAGG	0.582000														37			6		0	0	0.001168	0	0
B4GALT2	8704	broad.mit.edu	37	1	44447572	44447572	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:44447572C>T	uc010okl.2	+	2	688	c.612C>T	c.(610-612)cgC>cgT	p.R204R	B4GALT2_uc001clg.3_Silent_p.R175R|B4GALT2_uc001clh.3_Silent_p.R109R|B4GALT2_uc001cli.3_Silent_p.R175R	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	175					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AGCGGCTGCGCTACGGCGTCT	0.607000														29			7		0	0	0.001984	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490586	20490586	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:20490586C>T	uc001ytf.1	+	3		c.566C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		ACTGTGGCTTCAGGTGGGTGT	0.468000														272			20		0	0	0.002299	0	0
KSR2	283455	broad.mit.edu	37	12	117914313	117914313	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:117914313C>T	uc001two.2	-	16	2506	c.2451G>A	c.(2449-2451)gaG>gaA	p.E817E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	846	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGCTTATCCTCCTCTGTGT	0.607000														12			4		0	0	0.000602	0	0
LRTM1	57408	broad.mit.edu	37	3	54958975	54958975	+	Missense_Mutation	SNP	C	T	T	rs141303357	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:54958975C>T	uc003dhl.3	-	1	409	c.275G>A	c.(274-276)gGa>gAa	p.G92E	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	92						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATGGAAAGCTCCAGGGGCCAG	0.463000														20			4		0	0	0.009096	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:130762527G>A	uc003qcb.3	+	1	3338	c.960G>A	c.(958-960)agG>agA	p.R320R	TMEM200A_uc003qca.3_Silent_p.R320R|TMEM200A_uc010kfh.3_Silent_p.R320R|TMEM200A_uc010kfi.3_Silent_p.R320R|TMEM200A_uc021zfg.1_Silent_p.R320R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	320						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTAGGTCAAGGAATTTGTCAA	0.428000														46			11		0	0	0.008291	0	0
MACC1	346389	broad.mit.edu	37	7	20199749	20199749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:20199749C>T	uc003sus.4	-	4	544	c.235G>A	c.(235-237)Gat>Aat	p.D79N	MACC1_uc010kug.3_Missense_Mutation_p.D79N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	79					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTTATGTCATCCAAAAATGGG	0.358000														23			13		0	0	0.002450	0	0
CIT	11113	broad.mit.edu	37	12	120196473	120196473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:120196473G>A	uc001txj.2	-	20	2509	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	CIT_uc001txh.2_Missense_Mutation_p.S310F|CIT_uc001txi.2_Missense_Mutation_p.S776F	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	776					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGTTCCAGGGATCTGATCTT	0.448000														67			23		0	0	0.005443	0	0
AGBL1	123624	broad.mit.edu	37	15	86697687	86697687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:86697687G>A	uc002blz.1	+	2	231	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	51					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAAGGCCCTAGAATTGGAAGC	0.448000														14			4		0	0	0.009096	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089501	113089501	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:113089501C>T	uc002thq.1	+	11	3400	c.3006C>T	c.(3004-3006)aaC>aaT	p.N1002N		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	1002							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CCAGATCAAACCCTGGTTCAT	0.522000														16			8		0	0	0.004482	0	0
ODZ2	57451	broad.mit.edu	37	5	167642239	167642239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:167642239G>A	uc010jjd.3	+	20	4013	c.4013G>A	c.(4012-4014)gGa>gAa	p.G1338E	ODZ2_uc003lzr.4_Missense_Mutation_p.G1108E|ODZ2_uc003lzt.4_Missense_Mutation_p.G711E|ODZ2_uc010jje.3_Missense_Mutation_p.G602E	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGCGGGGATGGAGGGAAGGCC	0.557000														61			28		0	0	0.002096	0	0
CTNND2	1501	broad.mit.edu	37	5	11022919	11022919	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:11022919G>A	uc003jfa.1	-	16	3106	c.2961C>T	c.(2959-2961)atC>atT	p.I987I	CTNND2_uc010itt.2_Silent_p.I896I|CTNND2_uc011cmy.1_Silent_p.I650I|CTNND2_uc011cmz.1_Silent_p.I554I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I579I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	987					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I987I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCAACTTCTCGATGCCACCGG	0.498000														36			13		0	0	0.002450	0	0
PRSS38	339501	broad.mit.edu	37	1	228033839	228033839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:228033839C>T	uc001hrh.3	+	4	911	c.911C>T	c.(910-912)gCt>gTt	p.A304V		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	304					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCAGCCCCTGCTCTCTCTCCA	0.532000														39			14		0	0	0.002450	0	0
TTC39A	22996	broad.mit.edu	37	1	51787445	51787445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:51787445C>T	uc001csl.3	-	1	202	c.97G>A	c.(97-99)Gac>Aac	p.D33N	TTC39A_uc001csk.3_Missense_Mutation_p.D33N|TTC39A_uc010ond.2_Missense_Mutation_p.D5N|TTC39A_uc010one.2_Missense_Mutation_p.D32N|TTC39A_uc010onf.2_Missense_Mutation_p.D36N|TTC39A_uc001csn.3_Missense_Mutation_p.D32N|TTC39A_uc001cso.1_Missense_Mutation_p.D29N|TTC39A_uc009vyy.1_Missense_Mutation_p.D5N	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	33							binding	p.0?(2)|p.L32L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AGGAAGAGGTCCAGGGCGGTC	0.632000														25			10		0	0	0.008291	0	0
PPAP2B	8613	broad.mit.edu	37	1	56962279	56962279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:56962279C>T	uc001cyj.2	-	5	1448	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	294					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAAAGGATTTCCTTCCGGATA	0.478000														35			17		0	0	0.006122	0	0
LAMA1	284217	broad.mit.edu	37	18	7024446	7024447	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:7024446_7024447GG>AA	uc002knm.3	-	17	2515_2516	c.2421_2422CC>TT	c.(2419-2424)cacctc>caTTtc	p.L808F	LAMA1_uc010wzj.2_Missense_Mutation_p.L284F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	808	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.L808L(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATCATTGAGGTGGCAGGTGG	0.436000														17			4		0	0	0.004672	0	0
SMOX	54498	broad.mit.edu	37	20	4163123	4163123	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:4163123T>G	uc002wkp.2	+	4	1198	c.997T>G	c.(997-999)Tcg>Gcg	p.S333A	SMOX_uc010zqo.1_Intron|SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkm.1_Missense_Mutation_p.S333A|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.S333A	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	333					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	TGTGACCGTGTCGCTAGGTGT	0.637000														34			17		0	0	0.007413	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536156	31536156	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:31536156C>T	uc003aka.3	-	0	314	c.185G>A	c.(184-186)tGg>tAg	p.W62*		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	62					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ATGCGCATCCCAGCGGGCATG	0.637000														52			15		0	0	0.002450	0	0
MSI2	124540	broad.mit.edu	37	17	55478817	55478817	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:55478817C>T	uc002iuz.1	+	5	563	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MSI2_uc010wnm.1_Silent_p.F108F|MSI2_uc002iva.3_Silent_p.F126F	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	130	RRM 2.					cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AGCAATATTTCGAGCAGTTTG	0.488000			T	HOXA9	CML									45			30		0	0	0.002836	0	0
ENPP4	22875	broad.mit.edu	37	6	46107806	46107806	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:46107806A>T	uc003oxy.3	+	1	745	c.486A>T	c.(484-486)gaA>gaT	p.E162D		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	162						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CATTTGAGGAAAGACTAAATA	0.413000														53			15		0	0	0.003163	0	0
C15orf2	23742	broad.mit.edu	37	15	24922858	24922858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:24922858G>A	uc001ywo.3	+	0	2318	c.1844G>A	c.(1843-1845)gGa>gAa	p.G615E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	615					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGGCACCCGGGAAAGACATCA	0.473000														52			17		0	0	0.006122	0	0
XKR4	114786	broad.mit.edu	37	8	56436558	56436558	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:56436558G>A	uc003xsf.3	+	2	1757	c.1725G>A	c.(1723-1725)gtG>gtA	p.V575V		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	575						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCTTTCAAGTGAGGCCCACTG	0.532000														48			17		0	0	0.008871	0	0
SOGA3	387104	broad.mit.edu	37	6	127796913	127796913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:127796913G>A	uc003qbd.3	-	5	3123	c.2258C>T	c.(2257-2259)gCc>gTc	p.A753V	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	753						integral to membrane											GTCGCTCTCGGCGTCGCTGTC	0.692000														80			31		0	0	0.002836	0	0
TTC6	319089	broad.mit.edu	37	14	38273927	38273927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:38273927C>T	uc001wuj.3	+	3	364	c.262C>T	c.(262-264)Cat>Tat	p.H88Y	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.H88Y|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TGCCATTTCTCATTCTGATAA	0.398000														69			50		0	0	0.003610	0	0
NLRP9	338321	broad.mit.edu	37	19	56243537	56243537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:56243537C>T	uc002qly.3	-	1	1688	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	554						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATTCTTTTTCCTGAGTTTCA	0.348000														18			10		0	0	0.001368	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411082	32411082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32411082G>A	uc003obh.3	+	2	558	c.449G>A	c.(448-450)gGa>gAa	p.G150E	HLA-DRA_uc003obi.3_Missense_Mutation_p.G125E	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	150	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity	p.G150R(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CTTCGAAATGGAAAACCTGTC	0.527000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					42			38		0	0	0.004878	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142499643	142499643	+	RNA	SNP	C	T	T	rs1126990		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142499643C>T	uc003wbe.4	+	2		c.456C>T			TCRBV3S1_uc022anx.1_Non-coding_Transcript|TCRBV3S1_uc003wbi.4_Non-coding_Transcript|TCRBV3S1_uc022any.1_Non-coding_Transcript|TCRBV3S1_uc003wbm.4_Non-coding_Transcript|TCRBV3S1_uc003wbn.4_Non-coding_Transcript|TCRBV3S1_uc010los.3_Non-coding_Transcript					Human TCR Cbeta1 chain cDNA.																		GGCTTCACCTCCGGTAAGTGA	0.507000														256			95		0	0	0.003610	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754734	94754734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:94754734C>T	uc001yct.3	-	2	1347	c.881G>A	c.(880-882)gGa>gAa	p.G294E	SERPINA10_uc001ycu.4_Missense_Mutation_p.G294E	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	294					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.G294R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTGGCATTTCCTTGGTAGGG	0.502000														31			14		0	0	0.004007	0	0
WNT8A	7478	broad.mit.edu	37	5	137426367	137426367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:137426367G>A	uc011cyk.1	+	4	951	c.715G>A	c.(715-717)Gat>Aat	p.D239N	WNT8A_uc011cyj.1_Missense_Mutation_p.D239N|WNT8A_uc003lcd.1_Missense_Mutation_p.D221N			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	221					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.A238V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATTGAAATGGATAAGCGGCA	0.567000														20			6		0	0	0.001168	0	0
ZNF398	57541	broad.mit.edu	37	7	148863293	148863293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:148863293C>T	uc011kum.2	+	3	620	c.479C>T	c.(478-480)cCa>cTa	p.P160L	ZNF398_uc011kul.2_5'UTR|ZNF398_uc003wfl.3_Missense_Mutation_p.P155L	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	155	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTTTCCACTCCAGAGTGGGAA	0.398000														45			14		0	0	0.002450	0	0
PRRC2B	84726	broad.mit.edu	37	9	134321957	134321958	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:134321957_134321958CC>TT	uc004can.4	+	5	838_839	c.783_784CC>TT	c.(781-786)gtccga>gtTTga	p.R262*	PRRC2B_uc010mzj.1_5'Flank|PRRC2B_uc004cam.1_Nonsense_Mutation_p.R262*	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	262							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTCAGCCTGTCCGAAAAGGGGC	0.540000														14			10		0	0	0.004672	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332964	100332964	+	RNA	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:100332964G>A	uc021sxl.1	-	1		c.189C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GGGCAGGCAGGGGCAGGGGAG	0.617000														30			6		0	0	0.004482	0	0
API5	8539	broad.mit.edu	37	11	43364037	43364037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:43364037C>T	uc010rfh.1	+	13	1725	c.1552C>T	c.(1552-1554)Cgt>Tgt	p.R518C	API5_uc001mxf.2_3'UTR|API5_uc010rfg.1_Missense_Mutation_p.R507C|API5_uc010rfi.1_3'UTR|API5_uc021qgi.1_3'UTR	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	0					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.R518C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						ACGAGGAAATCGTAGTCGGGG	0.463000														33			5		0	0	0.001168	0	0
FKBP15	23307	broad.mit.edu	37	9	115930833	115930833	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:115930833G>A	uc004bgs.2	-	26	3642	c.3489C>T	c.(3487-3489)ctC>ctT	p.L1163L	FKBP15_uc004bgr.2_Silent_p.L600L|FKBP15_uc011lxc.1_Silent_p.L744L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	1163					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CATCCCCAGAGAGACTGAAGG	0.493000														16			10		0	0	0.006214	0	0
LAMA1	284217	broad.mit.edu	37	18	6948508	6948508	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:6948508G>A	uc002knm.3	-	59	8698	c.8604C>T	c.(8602-8604)agC>agT	p.S2868S	LAMA1_uc002knk.3_Silent_p.S198S|LAMA1_uc002knl.3_Silent_p.S321S|LAMA1_uc010wzj.2_Silent_p.S2344S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2868	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGCTGTTTGCTGTTAACCG	0.527000														20			15		0	0	0.002450	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186821	47186821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:47186821C>T	uc001rpi.2	-	2	433	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	SLC38A4_uc001rpj.2_Missense_Mutation_p.E12K|SLC38A4_uc009zkl.2_Missense_Mutation_p.E12K	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	12					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TCATCTGGTTCGATGTTGACA	0.443000														57			18		0	0	0.008871	0	0
HTR2A	3356	broad.mit.edu	37	13	47409312	47409312	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:47409312C>G	uc010acr.3	-	3	1765	c.1076G>C	c.(1075-1077)gGg>gCg	p.G359A	HTR2A_uc001vbr.3_Missense_Mutation_p.G275A	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	359					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.G359G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GAGCAGGGCCCCAATGACATC	0.473000														35			17		0	0	0.006122	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629369	51629369	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:51629369C>T	uc010yct.2	+	2	827	c.732C>T	c.(730-732)ttC>ttT	p.F244F	SIGLEC9_uc002pvu.3_Silent_p.F244F	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	244	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGACTGTCTTCCAAGGAGACG	0.607000														31			11		0	0	0.001855	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081082	193081082	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:193081082G>A	uc011bsq.2	-	2	327	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	109					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGCCACCAGGGATTCTTCCC	0.408000														50			11		0	0	0.008291	0	0
CIB3	117286	broad.mit.edu	37	19	16275555	16275555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:16275555C>T	uc002nds.3	-	4	516	c.516G>A	c.(514-516)atG>atA	p.M172I	CIB3_uc010eae.3_Missense_Mutation_p.M111I|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Missense_Mutation_p.M123I	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	172	EF-hand 3.						calcium ion binding	p.M172I(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCCGGAGGATCATGTTCTGGA	0.572000														27			13		0	0	0.003163	0	0
UNC13C	440279	broad.mit.edu	37	15	54305959	54305959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:54305959G>A	uc021smr.1	+	0	859	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	UNC13C_uc021sms.1_Missense_Mutation_p.E287K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	287					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTACAAAGTGAAATTGAGCA	0.458000														35			30		0	0	0.009535	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983092	140983092	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:140983092C>A	uc011mwp.2	+	4	947	c.947C>A	c.(946-948)tCc>tAc	p.S316Y	MAGEC3_uc004fbs.3_5'UTR|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	316	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GATGTGCTTTCCCGACTTGCA	0.597000														27			24		6.50621e-10	6.63327e-10	0.002836	1	0
SIVA1	10572	broad.mit.edu	37	14	105221989	105221989	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:105221989C>T	uc001yph.3	+	1	210	c.141C>T	c.(139-141)ttC>ttT	p.F47F	SIVA1_uc010tyj.1_Silent_p.F47F|SIVA1_uc001ypg.1_Silent_p.F47F|SIVA1_uc001ypi.3_Intron|SIVA1_uc021sel.1_5'Flank	NM_006427	NP_006418	O15304	SIVA_HUMAN	Homo sapiens SIVA1, apoptosis-inducing factor (SIVA1), transcript variant 1, mRNA.	47	Interaction with BCL2L1 isoform Bcl-x(L) and inhibition of BCL2L1 anti-apoptotic activity.				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis	cytoplasm|mitochondrion|nucleoplasm|nucleus	CD27 receptor binding|caspase activator activity|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GACTCCTGTTCCTCGGGGCCC	0.597000														58			20		0	0	0.003954	0	0
CDHR2	54825	broad.mit.edu	37	5	176002512	176002512	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:176002512C>T	uc021yie.1	+	9	1048	c.774C>T	c.(772-774)acC>acT	p.T258T	CDHR2_uc003mem.2_Silent_p.T258T|CDHR2_uc003men.1_Silent_p.T258T	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	258	Cadherin 3.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCCAGGGAACCTCGGTGCTGA	0.632000														60			24		0	0	0.005443	0	0
C2orf71	388939	broad.mit.edu	37	2	29295755	29295755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:29295755G>A	uc002rmt.2	-	0	1373	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	458					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AATCCCAAAGGAATCACATGG	0.557000														48			17		0	0	0.006122	0	0
DNER	92737	broad.mit.edu	37	2	230282920	230282920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:230282920C>T	uc002vpv.3	-	8	1660	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	505	EGF-like 8; calcium-binding (Potential).				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCATTATATTCCTCCTCACAG	0.532000														33			7		0	0	0.003080	0	0
LILRP2	79166	broad.mit.edu	37	19	55222099	55222099	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:55222099C>T	uc002qgs.1	+	0		c.2499C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GTGACCTCAGCCCACGCGGGG	0.622000														28			15		0	0	0.002450	0	0
SEZ6	124925	broad.mit.edu	37	17	27285069	27285069	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:27285069A>T	uc002hdp.2	-	10	2392	c.2198T>A	c.(2197-2199)gTg>gAg	p.V733E	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.V733E|SEZ6_uc002hdq.1_Missense_Mutation_p.V608E	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	733	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTAAGTGACCACGGTGCCGTG	0.612000														36			17		0	0	0.004990	0	0
INSL5	10022	broad.mit.edu	37	1	67266887	67266887	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:67266887G>A	uc001dcw.3	-	0	56	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN	Homo sapiens insulin-like 5 (INSL5), mRNA.	6						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						AAAACAGAGTGAAAATGGAGC	0.408000														15			12		0	0	0.001368	0	0
KPRP	448834	broad.mit.edu	37	1	152732712	152732712	+	Silent	SNP	C	T	T	rs138779194	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152732712C>T	uc001fal.1	+	1	706	c.648C>T	c.(646-648)agC>agT	p.S216S	KPRP_uc021ozf.1_Silent_p.S216S	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	216						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTACAGCAGCTGTTTCCCTC	0.562000														77			28		0	0	0.002096	0	0
RYR1	6261	broad.mit.edu	37	19	39008001	39008001	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:39008001C>T	uc002oit.3	+	65	9818	c.9688C>T	c.(9688-9690)Ctg>Ttg	p.L3230L	RYR1_uc002oiu.3_Silent_p.L3230L|RYR1_uc002oiv.1_Silent_p.L150L|RYR1_uc010xuf.1_Silent_p.L150L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3230					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TACCCCAGTCCTGGGGCTCCC	0.637000														16			12		0	0	0.001368	0	0
NEDD4L	23327	broad.mit.edu	37	18	55992285	55992285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:55992285C>T	uc002lgy.3	+	8	854	c.571C>T	c.(571-573)Cct>Tct	p.P191S	NEDD4L_uc002lgz.3_Missense_Mutation_p.P191S|NEDD4L_uc002lgx.3_Missense_Mutation_p.P191S|NEDD4L_uc010xee.1_Missense_Mutation_p.P70S|NEDD4L_uc002lhc.2_Missense_Mutation_p.P183S|NEDD4L_uc002lhd.2_Missense_Mutation_p.P70S|NEDD4L_uc002lhb.2_Missense_Mutation_p.P70S|NEDD4L_uc002lhe.2_Missense_Mutation_p.P183S|NEDD4L_uc002lhf.3_Missense_Mutation_p.P70S|NEDD4L_uc002lhg.3_Missense_Mutation_p.P70S|NEDD4L_uc002lhh.2_Missense_Mutation_p.P70S|NEDD4L_uc010dpm.1_Missense_Mutation_p.P42S	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	191					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGAGGAACTTCCTCCTCCTCC	0.498000														100			37		0	0	0.006999	0	0
STXBP5L	9515	broad.mit.edu	37	3	120924817	120924817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:120924817C>T	uc003eec.4	+	9	1065	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F	STXBP5L_uc011bji.2_Missense_Mutation_p.L309F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	309					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAAACCAATTCTTAAAGTAGA	0.284000														22			10		0	0	0.001855	0	0
LARP1B	55132	broad.mit.edu	37	4	129120688	129120688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:129120688G>A	uc003iga.3	+	15	2229	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	LARP1B_uc003igc.3_Missense_Mutation_p.E119K|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Non-coding_Transcript|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_5'UTR	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	700							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCCTTCTCATGAACTTTTGAA	0.408000														17			7		0	0	0.003080	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361566	70361566	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:70361566C>T	uc003hek.4	-	0	61	c.14G>A	c.(13-15)tGg>tAg	p.W5*	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Nonsense_Mutation_p.W5*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	5					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGCTGAAGTCCATTTCATAGA	0.448000														63			19		0	0	0.008871	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215754	8215754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:8215754C>T	uc002glc.3	+	1	552	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	ARHGEF15_uc002glb.2_Missense_Mutation_p.P133S|ARHGEF15_uc002gld.3_Missense_Mutation_p.P133S|ARHGEF15_uc010vuw.2_Missense_Mutation_p.P133S	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	133	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCCTCTGCTCCCCATGGCTGG	0.677000														64			17		0	0	0.004990	0	0
CLDN1	9076	broad.mit.edu	37	3	190026182	190026182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:190026182G>A	uc003fsh.3	-	3	760	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	174					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAGGCAGAGAGAAGCAGCA	0.493000														38			9		0	0	0.006214	0	0
CFHR5	81494	broad.mit.edu	37	1	196977674	196977674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:196977674G>A	uc001gts.4	+	9	1699	c.1571G>A	c.(1570-1572)aGa>aAa	p.R524K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	524	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTAAAATGGAGAAACGATGGA	0.323000														18			13		0	0	0.001368	0	0
OR2B2	81697	broad.mit.edu	37	6	27879944	27879944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:27879944C>T	uc011dkw.2	-	0	231	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AGTTTGAAATCCACATGTGAC	0.393000														36			7		0	0	0.001984	0	0
TNIK	23043	broad.mit.edu	37	3	170912390	170912390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:170912390G>A	uc003fhh.2	-	4	686	c.341C>T	c.(340-342)aCc>aTc	p.T114I	TNIK_uc003fhi.2_Missense_Mutation_p.T114I|TNIK_uc003fhj.2_Missense_Mutation_p.T114I|TNIK_uc003fhk.2_Missense_Mutation_p.T114I|TNIK_uc003fhl.2_Missense_Mutation_p.T114I|TNIK_uc003fhm.2_Missense_Mutation_p.T114I|TNIK_uc003fhn.2_Missense_Mutation_p.T114I|TNIK_uc003fho.2_Missense_Mutation_p.T114I	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	114	Protein kinase.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.V113A(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GATCAGGTCGGTGACAGAGCC	0.463000														66			36		0	0	0.005524	0	0
NR2C2	7182	broad.mit.edu	37	3	15057667	15057668	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:15057667_15057668GG>AA	uc003bzj.4	+	3	499_500	c.282_283GG>AA	c.(280-285)acggat>acAAat	p.D95N	NR2C2_uc003bzi.3_Missense_Mutation_p.D114N	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	95					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.Q95Q(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGATTGTCACGGATTCTGCCTC	0.535000														48			18		0	0	0.004672	0	0
PAPPA	5069	broad.mit.edu	37	9	119115177	119115177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:119115177C>T	uc004bjn.3	+	15	4538	c.4157C>T	c.(4156-4158)tCc>tTc	p.S1386F	PAPPA_uc011lxq.2_Missense_Mutation_p.S761F	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1386	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCCTGGATCCTCTCGGAAG	0.517000														10			3		0	0	0.009096	0	0
C1GALT1	56913	broad.mit.edu	37	7	7283232	7283232	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:7283232C>T	uc003srb.2	+	3	1189	c.966C>T	c.(964-966)ctC>ctT	p.L322L	C1GALT1_uc003sra.3_Silent_p.L322L	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	322					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TAGAATACCTCGTTTATCATC	0.353000														63			27		0	0	0.005443	0	0
GRHL2	79977	broad.mit.edu	37	8	102678844	102678844	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:102678844C>T	uc010mbu.3	+	15	2121	c.1791C>T	c.(1789-1791)atC>atT	p.I597I		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	597						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATGACAACATCATCGAGCACT	0.547000														26			12		0	0	0.000978	0	0
PGM1	5236	broad.mit.edu	37	1	64120092	64120092	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:64120092C>T	uc010ooz.2	+	9	1853	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	PGM1_uc001dbh.3_Silent_p.I518I|PGM1_uc010ooy.2_Silent_p.I321I	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	518					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCTGTACATCGATAGCTATG	0.532000														22			11		0	0	0.000978	0	0
PRSS1	5644	broad.mit.edu	37	7	142460361	142460361	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142460361G>A	uc003wak.2	+	3	551	c.534G>A	c.(532-534)aaG>aaA	p.K178K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Silent_p.K118K	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	178	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACCCTGGAAAGATTACCAGCA	0.542000														116			42		0	0	0.008740	0	0
GALR1	2587	broad.mit.edu	37	18	74980684	74980684	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:74980684G>A	uc002lms.4	+	2	1373	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	292					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.L291Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ACTGCCTGGCGTACAGCAATT	0.493000														38			22		0	0	0.001882	0	0
TP63	8626	broad.mit.edu	37	3	189526315	189526315	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:189526315G>A	uc003fry.2	+	4	668	c.579_splice	c.e4+1	p.T193_splice	TP63_uc003frx.2_Splice_Site_p.T193_splice|TP63_uc003frz.2_Splice_Site_p.T193_splice|TP63_uc010hzc.1_Splice_Site_p.T193_splice|TP63_uc003fsa.2_Splice_Site_p.T99_splice|TP63_uc003fsb.2_Splice_Site_p.T99_splice|TP63_uc003fsc.2_Splice_Site_p.T99_splice|TP63_uc003fsd.2_Splice_Site_p.T99_splice|TP63_uc021xir.1_Splice_Site_p.T99_splice|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Splice_Site_p.T74_splice	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	193			T -> TP (in SHFM4).		DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCACCTGGACGGTAAGAGCAG	0.617000										HNSCC(45;0.13)				23			12		0	0	0.003163	0	0
ASB2	51676	broad.mit.edu	37	14	94420818	94420818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:94420818G>A	uc001ycd.3	-	3	693	c.323C>T	c.(322-324)cCc>cTc	p.P108L	ASB2_uc001ycc.2_Missense_Mutation_p.P60L|ASB2_uc001yce.1_Missense_Mutation_p.P6L	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	60					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTTATCAAGGGGTCCGCAGG	0.597000														56			19		0	0	0.001882	0	0
MRE11A	4361	broad.mit.edu	37	11	94204874	94204874	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:94204874G>A	uc009ywj.2	-	7	1040	c.720C>T	c.(718-720)ttC>ttT	p.F240F	MRE11A_uc001peu.2_Silent_p.F237F|MRE11A_uc001pev.2_Silent_p.F237F			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	237					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CAAGATCAATGAAGTCATCCA	0.343000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					22			15		0	0	0.003163	0	0
ZFP42	132625	broad.mit.edu	37	4	188924167	188924167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:188924167C>T	uc003izh.1	+	3	614	c.206C>T	c.(205-207)tCa>tTa	p.S69L	ZFP42_uc003izi.1_Missense_Mutation_p.S69L|ZFP42_uc021xvm.1_Missense_Mutation_p.S69L	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	69					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GATGATTTCTCAGACTGTTAC	0.498000														32			10		0	0	0.000978	0	0
EPHB1	2047	broad.mit.edu	37	3	134851570	134851570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:134851570C>T	uc003eqt.3	+	4	1351	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Silent_p.V214V|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	326	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			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						CCCATCAGGTCCCCGCAATGT	0.547000														15			4		0	0	0.009096	0	0
CLCA4	22802	broad.mit.edu	37	1	87036790	87036790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:87036790G>A	uc009wcs.3	+	7	1257	c.1213G>A	c.(1213-1215)Gga>Aga	p.G405R	CLCA4_uc009wct.3_Missense_Mutation_p.G168R|CLCA4_uc009wcu.3_Missense_Mutation_p.G225R	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	405	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CCAACTCGATGGATCCGAAGT	0.418000														82			40		0	0	0.002522	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37734739	37734739	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:37734739G>A	uc003xkm.2	-	1	758	c.702C>T	c.(700-702)tcC>tcT	p.S234S	RAB11FIP1_uc003xkn.2_Silent_p.S234S|RAB11FIP1_uc003xkp.1_Silent_p.S82S	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	234					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGACAGACATGGACTGGGAAA	0.453000														45			23		0	0	0.004656	0	0
PLCH1	23007	broad.mit.edu	37	3	155200524	155200524	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:155200524C>T	uc021xge.1	-	22	3592	c.3315G>A	c.(3313-3315)gtG>gtA	p.V1105V	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.V1067V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1105					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTGATTTTCACACCATGCA	0.478000														77			32		0	0	0.008361	0	0
MAP3K12	7786	broad.mit.edu	37	12	53879933	53879933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:53879933G>A	uc001sdn.2	-	3	999	c.728C>T	c.(727-729)cCc>cTc	p.P243L	MAP3K12_uc001sdm.2_Missense_Mutation_p.P210L	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	210	Protein kinase.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGTAAGGAGGGGGTGACAGG	0.592000														41			21		0	0	0.003330	0	0
OR8D2	283160	broad.mit.edu	37	11	124189926	124189926	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:124189926G>A	uc010sah.2	-	0	168	c.168C>T	c.(166-168)taC>taT	p.Y56Y		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ACACTGGAGGGTAAAGTTGAG	0.438000														22			11		0	0	0.008291	0	0
ADCY8	114	broad.mit.edu	37	8	132051923	132051923	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:132051923G>A	uc003ytd.4	-	0	913	c.657C>T	c.(655-657)ttC>ttT	p.F219F	ADCY8_uc010mds.3_Silent_p.F219F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	219					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAATGCCGGTGAAGAAGCCCA	0.622000										HNSCC(32;0.087)				25			16		0	0	0.004007	0	0
TM4SF18	116441	broad.mit.edu	37	3	149040220	149040220	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:149040220G>A	uc021xfl.1	-	3	504	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TM4SF18_uc003exa.3_Silent_p.F138F	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.	138						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AATCTGTAAGGAAACTGAGAG	0.393000														16			8		0	0	0.000978	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681099	176681099	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:176681099G>A	uc001gkz.3	+	11	4944	c.3780G>A	c.(3778-3780)gaG>gaA	p.E1260E	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1260					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAAGAAAGAGGATGAGGTTT	0.468000														23			6		0	0	0.001984	0	0
ANO4	121601	broad.mit.edu	37	12	101493365	101493365	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:101493365G>A	uc010svm.1	+	21	2588	c.2016G>A	c.(2014-2016)caG>caA	p.Q672Q	ANO4_uc001thw.2_Silent_p.Q637Q|ANO4_uc001thx.2_Silent_p.Q672Q|ANO4_uc001thy.2_Silent_p.Q192Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	672						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGTTAATTCAGAATTGGTGGA	0.343000										HNSCC(74;0.22)				32			22		0	0	0.003954	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655068	31655068	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:31655068G>A	uc002ynv.3	-	0	209	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	61						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGGATTCTTGGCAGTAATCCA	0.512000														49			24		0	0	0.006320	0	0
WNT10A	80326	broad.mit.edu	37	2	219746962	219746962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:219746962C>T	uc002vjd.1	+	1	656	c.193C>T	c.(193-195)Cca>Tca	p.P65S		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	65					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTAACATTGCCAGGCCTGAG	0.607000														32			17		0	0	0.004990	0	0
OR13C5	138799	broad.mit.edu	37	9	107361157	107361157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:107361157C>T	uc011lvp.2	-	0	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTAGAATTTCACAGGTGAAA	0.423000														68			28		0	0	0.005443	0	0
FDX1L	112812	broad.mit.edu	37	19	10421288	10421288	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:10421288G>A	uc002mny.1	-	4	445	c.426C>T	c.(424-426)ctC>ctT	p.L142L	ZGLP1_uc002mnw.4_5'Flank|FDX1L_uc002mnx.1_Intron	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA.	142	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			TCTCCTGGAGGAGGGGGGCCA	0.632000														39			15		0	0	0.004007	0	0
RXFP1	59350	broad.mit.edu	37	4	159493972	159493972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:159493972G>A	uc003ipz.3	+	1	435	c.172G>A	c.(172-174)Gat>Aat	p.D58N	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_5'UTR|RXFP1_uc010iqo.3_Missense_Mutation_p.D58N|RXFP1_uc011cjb.2_5'UTR|RXFP1_uc011cjc.2_5'UTR|RXFP1_uc011cjd.2_5'UTR|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Missense_Mutation_p.D58N|RXFP1_uc010iqm.3_Missense_Mutation_p.D58N|RXFP1_uc011cjf.2_5'UTR|RXFP1_uc010iqn.3_Intron	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	58	LDL-receptor class A.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.D58D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GAATCAGGCCGATGAGGACAA	0.532000														38			14		0	0	0.003163	0	0
ANO9	338440	broad.mit.edu	37	11	420587	420587	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:420587G>A	uc001lpi.2	-	18	1747	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	ANO9_uc001lph.2_Silent_p.F247F|ANO9_uc010qvv.1_Silent_p.F410F	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	554						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						AGGCGGCCACGAAGATGGTGG	0.692000														13			6		0	0	0.001984	0	0
OR2C3	81472	broad.mit.edu	37	1	247695676	247695676	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:247695676G>A	uc021pmb.1	-	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.I46I	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGACCAGAATGATGATGCCAT	0.488000														36			12		0	0	0.001855	0	0
SETBP1	26040	broad.mit.edu	37	18	42532839	42532839	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:42532839C>T	uc010dni.3	+	3	3830	c.3534C>T	c.(3532-3534)gcC>gcT	p.A1178A		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1178						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGGCAAAGCCACAGGCTTCT	0.527000									Schinzel-Giedion syndrome					39			24		0	0	0.004656	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318466	30318466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:30318466C>T	uc009xle.2	-	2	748	c.611G>A	c.(610-612)gGg>gAg	p.G204E	KIAA1462_uc001iux.3_Missense_Mutation_p.G204E|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G66E	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	204								p.D203D(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CAGTCTCTCCCCATCTCCATC	0.483000														102			45		0	0	0.009718	0	0
NLRP4	147945	broad.mit.edu	37	19	56369516	56369516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:56369516G>A	uc002qmd.4	+	2	1179	c.757G>A	c.(757-759)Gag>Aag	p.E253K	NLRP4_uc002qmf.3_Missense_Mutation_p.E178K|NLRP4_uc010etf.3_Missense_Mutation_p.E84K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	253	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGACTTGATGGAGAAACGGCC	0.572000														62			31		0	0	0.004289	0	0
OR4K2	390431	broad.mit.edu	37	14	20344656	20344656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:20344656C>T	uc001vwh.1	+	0	230	c.230C>T	c.(229-231)gCc>gTc	p.A77V		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTTCTTTCGCCACCCCAAAG	0.413000														67			43		0	0	0.007835	0	0
COL13A1	1305	broad.mit.edu	37	10	71655329	71655329	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:71655329C>T	uc001jql.3	+	11	1190	c.654C>T	c.(652-654)caC>caT	p.H218H	COL13A1_uc021prz.1_Silent_p.H218H|COL13A1_uc021psa.1_Silent_p.H180H|COL13A1_uc021psb.1_Silent_p.H189H|COL13A1_uc001jqk.2_Silent_p.H218H|COL13A1_uc021psc.1_Silent_p.H218H|COL13A1_uc021psd.1_Silent_p.H218H|COL13A1_uc010qjf.2_Silent_p.H180H|COL13A1_uc021pse.1_Silent_p.H189H|COL13A1_uc021psf.1_Silent_p.H218H|COL13A1_uc021psg.1_Silent_p.H218H|COL13A1_uc021psh.1_Silent_p.H218H	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	218	Nonhelical region 2 (NC2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGTACCCACACCGGGTAAGTG	0.572000														34			15		0	0	0.004007	0	0
FOLR1	2348	broad.mit.edu	37	11	71906446	71906446	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:71906446C>T	uc001orz.2	+	3	576	c.300C>T	c.(298-300)ttC>ttT	p.F100F	FOLR1_uc001osa.2_Silent_p.F100F|FOLR1_uc001osb.2_Silent_p.F100F|FOLR1_uc001osd.2_Silent_p.F100F	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	100					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						AACGGCATTTCATCCAGGACA	0.547000														111			36		0	0	0.008740	0	0
MLIP	90523	broad.mit.edu	37	6	54025203	54025203	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:54025203G>A	uc011dxa.2	+	5	2361	c.2328G>A	c.(2326-2328)aaG>aaA	p.K776K	MLIP_uc003pcf.2_Silent_p.K765K|MLIP_uc003pcg.4_Silent_p.K241K|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	241						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GTGTCTCCAAGGACAACACAT	0.403000														11			5		0	0	0.000602	0	0
SLC30A8	169026	broad.mit.edu	37	8	118174023	118174023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:118174023G>A	uc003yoh.3	+	4	849	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	SLC30A8_uc010mcz.3_Missense_Mutation_p.E158K|SLC30A8_uc003yog.3_Missense_Mutation_p.E158K|SLC30A8_uc011lia.2_Missense_Mutation_p.E158K|SLC30A8_uc022bab.1_Missense_Mutation_p.E158K|Metazoa_SRP_uc022bac.1_5'Flank	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	207					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CAATCACAAGGAAGTACAAGC	0.428000														195			80		0	0	0.003610	0	0
TAP2	6891	broad.mit.edu	37	6	32798510	32798510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32798510C>T	uc011dqf.1	-	7	1468	c.1346G>A	c.(1345-1347)cGa>cAa	p.R449Q	TAP2_uc003ocb.1_Missense_Mutation_p.R449Q|TAP2_uc003occ.3_Missense_Mutation_p.R449Q|TAP2_uc003ocd.3_Missense_Mutation_p.R449Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	449					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										ATTTGGCTGTCGGTCCATGTA	0.542000														20			8		0	0	0.008291	0	0
PCLO	27445	broad.mit.edu	37	7	82546143	82546143	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:82546143A>C	uc003uhx.2	-	6	11448	c.11159T>G	c.(11158-11160)gTt>gGt	p.V3720G	PCLO_uc003uhv.2_Missense_Mutation_p.V3720G|PCLO_uc010lec.3_Missense_Mutation_p.V685G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3651					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTCTTTTAACTTTTTTCTG	0.383000														54			23		0	0	0.009535	0	0
ITGAE	3682	broad.mit.edu	37	17	3655001	3655001	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:3655001G>A	uc002fwo.4	-	14	1935	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	612					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACACACTGCCGAAGCTGGCAC	0.612000														56			18		0	0	0.006122	0	0
SAMD9	54809	broad.mit.edu	37	7	92730772	92730772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:92730772C>T	uc003umf.3	-	2	4909	c.4639G>A	c.(4639-4641)Gaa>Aaa	p.E1547K	SAMD9_uc003umg.3_Missense_Mutation_p.E1547K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1547K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1547						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTGATTTTTTCATTGATTCCA	0.388000														27			15		0	0	0.002450	0	0
PTPRK	5796	broad.mit.edu	37	6	128326357	128326357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:128326357C>T	uc003qbk.3	-	14	2730	c.2363G>A	c.(2362-2364)gGg>gAg	p.G788E	PTPRK_uc010kfc.3_Missense_Mutation_p.G789E|PTPRK_uc003qbj.3_Missense_Mutation_p.G789E|PTPRK_uc011ebu.2_Missense_Mutation_p.G789E|PTPRK_uc003qbl.1_Missense_Mutation_p.G683E|PTPRK_uc011ebv.1_Missense_Mutation_p.G799E|PTPRK_uc010kfd.1_Missense_Mutation_p.G2E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	788					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.A787V(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCGGGTATTCCCCATGGCATC	0.463000														28			14		0	0	0.004007	0	0
OR10H1	26539	broad.mit.edu	37	19	15917966	15917966	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:15917966C>T	uc002nbq.2	-	0	971	c.882G>A	c.(880-882)agG>agA	p.R294R		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GCTCCTTGTTCCTGAGGCTGA	0.478000														25			6		0	0	0.001168	0	0
BDKRB2	624	broad.mit.edu	37	14	96703495	96703495	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:96703495C>T	uc010avm.1	+	1	247	c.51C>T	c.(49-51)tcC>tcT	p.S17S	BDKRB2_uc010avl.2_Missense_Mutation_p.P77L|BDKRB2_uc010twu.1_5'UTR|BDKRB2_uc001yfg.2_Silent_p.S17S	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	17					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GTGAGGACTCCGTGCCCACCA	0.532000														48			30		0	0	0.002445	0	0
OR13G1	441933	broad.mit.edu	37	1	247836268	247836268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:247836268G>A	uc001idi.1	-	0	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAAAAAAGAGGAAGATAATT	0.418000														23			14		0	0	0.003163	0	0
SLAIN1	122060	broad.mit.edu	37	13	78293711	78293711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:78293711C>T	uc010thy.1	+	1	222	c.179C>T	c.(178-180)tCc>tTc	p.S60F	SLAIN1_uc001vkk.2_5'UTR	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	202										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TCAGAGAAATCCCTGACTCCT	0.418000														32			8		0	0	0.003080	0	0
JPH1	56704	broad.mit.edu	37	8	75227454	75227454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:75227454C>T	uc003yae.3	-	1	821	c.781G>A	c.(781-783)Gat>Aat	p.D261N	JPH1_uc003yaf.3_Missense_Mutation_p.D261N|JPH1_uc003yag.1_Missense_Mutation_p.D125N	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	261					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CAATCTACATCGCCAAAGCTG	0.567000														38			14		0	0	0.001855	0	0
ABCA4	24	broad.mit.edu	37	1	94473808	94473808	+	Missense_Mutation	SNP	C	T	T	rs142253670		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:94473808C>T	uc001dqh.3	-	41	5985	c.5881G>A	c.(5881-5883)Gga>Aga	p.G1961R	ABCA4_uc001dqi.1_Missense_Mutation_p.G80R	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1961	ABC transporter 2.		G -> E (in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGCGAACTCCGACACACAGC	0.562000														41			13		0	0	0.002450	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136196	92136196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:92136196G>A	uc001xzs.1	-	13	1389	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y	CATSPERB_uc010aub.1_5'UTR	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	417					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.H417Y(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTCGGGGATGAAATACCATT	0.408000														25			7		0	0	0.001984	0	0
LCE1A	353131	broad.mit.edu	37	1	152800038	152800038	+	Silent	SNP	C	T	T	rs4990420		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152800038C>T	uc010pdw.2	+	0	90	c.90C>T	c.(88-90)ccC>ccT	p.P30P		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	30	Cys-rich.				keratinization			p.P30S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctaagtgccccccaaagtgtc	0.672000														34			13		0	0	0.001855	0	0
MFSD2A	84879	broad.mit.edu	37	1	40422863	40422863	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:40422863C>T	uc001cev.3	+	1	379	c.198C>T	c.(196-198)ttC>ttT	p.F66F	MFSD2A_uc010ojb.1_Intron|MFSD2A_uc001ceu.3_Silent_p.F66F|MFSD2A_uc010ojc.2_Intron|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	66					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGGGTTTCTTCCTTCAGATCT	0.527000														105			40		0	0	0.006999	0	0
STRA13	201254	broad.mit.edu	37	17	79980701	79980702	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:79980701_79980702CC>TT	uc002kdc.3	-	1	72	c.36_splice	c.e1+1	p.K12_splice	STRA13_uc002kdd.3_Splice_Site|LRRC45_uc002kde.3_5'Flank	NM_144998	NP_659435	A8MT69	CENPX_HUMAN	Homo sapiens stimulated by retinoic acid 13 homolog (mouse) (STRA13), mRNA.	12					DNA repair	Fanconi anaemia nuclear complex|chromosome, centromeric region	DNA binding|protein binding					all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCGGCCCTCACCTTCCGGAAGC	0.743000														3			5		0	0	0.004672	0	0
MTUS2	23281	broad.mit.edu	37	13	29599514	29599514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:29599514G>A	uc001usl.4	+	0	767	c.709G>A	c.(709-711)Gca>Aca	p.A237T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	227						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGCTGTCCCGGCAGCTTTCCC	0.587000														28			16		0	0	0.004007	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139385	68139385	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:68139385G>A	uc003xxo.2	-	26	4293	c.3903C>T	c.(3901-3903)acC>acT	p.T1301T	ARFGEF1_uc003xxl.1_Silent_p.T755T|ARFGEF1_uc003xxn.2_Silent_p.T284T	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1301					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAATGTGCCCGGTTGTTTGGA	0.373000														23			9		0	0	0.006214	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951845	119951845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:119951845C>T	uc010inb.3	+	3	2111	c.1915C>T	c.(1915-1917)Ccg>Tcg	p.P639S	SYNPO2_uc010ina.3_Missense_Mutation_p.P639S|SYNPO2_uc003icm.4_Missense_Mutation_p.P639S|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P567S|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	639	Pro-rich.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGTTTCAAGTCCGATTGCTGG	0.592000														38			15		0	0	0.003163	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203619	140203619	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140203619G>A	uc003lhl.2	+	0	2259	c.2259G>A	c.(2257-2259)agG>agA	p.R753R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.R753R|PCDHAC2_uc003lhj.1_Silent_p.R753R	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	791					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCAGAGGAGACAGAGGG	0.632000														35			18		0	0	0.004990	0	0
LILRB1	10859	broad.mit.edu	37	19	55143633	55143633	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:55143633G>A	uc002qgj.3	+	5	946	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.S202S|LILRB1_uc002qgk.3_Silent_p.S202S|LILRB1_uc002qgm.3_Silent_p.S202S|LILRB1_uc010erq.3_Silent_p.S202S|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	202	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTTATGACTCGAACTCTCCCT	0.602000										HNSCC(37;0.09)				69			27		0	0	0.008361	0	0
RPS3	6188	broad.mit.edu	37	11	75115202	75115202	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:75115202T>C	uc001owh.3	+	4	519	c.489T>C	c.(487-489)ccT>ccC	p.P163P	SNORD15B_uc001owl.1_5'Flank	NM_001005	NP_000996	P23396	RS3_HUMAN	Homo sapiens ribosomal protein S3 (RPS3), mRNA.	163					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	DNA-(apurinic or apyrimidinic site) lyase activity|NF-kappaB binding|damaged DNA binding|endonuclease activity|iron-sulfur cluster binding|mRNA binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GCGGAGACCCTGTTAACTACT	0.537000														26			22		0	0	0.002299	0	0
OR10A5	144124	broad.mit.edu	37	11	6867102	6867102	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:6867102C>T	uc001met.1	+	0	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTACTTCTTCCTCAGAAACT	0.473000														82			35		0	0	0.003610	0	0
ODZ4	26011	broad.mit.edu	37	11	78413036	78413036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:78413036G>A	uc001ozl.4	-	27	5085	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1541					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CACAGCCAAGGAAGATGGGGT	0.502000														23			8		0	0	0.003080	0	0
HYDIN	54768	broad.mit.edu	37	16	70891771	70891771	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:70891771G>A	uc002ezr.3	-	71	12280	c.12129C>T	c.(12127-12129)atC>atT	p.I4043I	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4044										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTGGAACACGATCTAACAAG	0.478000														54			4		0	0	0.000602	0	0
ATP13A5	344905	broad.mit.edu	37	3	193029616	193029616	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:193029616A>G	uc011bsq.2	-	19	2434	c.2434T>C	c.(2434-2436)Ttg>Ctg	p.L812L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	812					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTTGGAAGCAAGCTGTTGAAA	0.423000														17			15		0	0	0.004990	0	0
NXPH1	30010	broad.mit.edu	37	7	8791333	8791333	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:8791333A>T	uc003srv.3	+	2	1661	c.750A>T	c.(748-750)aaA>aaT	p.K250N	NXPH1_uc011jxh.2_Missense_Mutation_p.K133N	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	250	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CAGATTATAAACTGGTACAGA	0.458000														15			10		0	0	0.008291	0	0
ZIM3	114026	broad.mit.edu	37	19	57646543	57646543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:57646543C>T	uc002qnz.1	-	4	1548	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E388G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGGGCTTTTCCCCAGTATGG	0.388000														67			17		0	0	0.004007	0	0
SMAD1	4086	broad.mit.edu	37	4	146460988	146460988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:146460988G>A	uc003ikc.3	+	2	849	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	SMAD1_uc003ikd.3_Missense_Mutation_p.E145K|SMAD1_uc010iov.3_Missense_Mutation_p.E145K|SMAD1_uc011cic.2_Missense_Mutation_p.E145K|SMAD1_uc003ikf.3_Non-coding_Transcript	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	145					BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.S144G(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGACACAGCGAATATAATCC	0.413000														27			11		0	0	0.001368	0	0
NOBOX	135935	broad.mit.edu	37	7	144098513	144098513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:144098513C>T	uc022aoj.1	-	3	470	c.470G>A	c.(469-471)aGa>aAa	p.R157K		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	157					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CGGGCACAGTCTCCCAGCATC	0.637000														33			14		0	0	0.002450	0	0
CDCP1	64866	broad.mit.edu	37	3	45127293	45127293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:45127293G>A	uc003com.3	-	8	2483	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	783						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TGCAGTTGGGGCCCTGGAGCA	0.622000														42			14		0	0	0.002450	0	0
MYH2	4620	broad.mit.edu	37	17	10429959	10429959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:10429959C>T	uc010coi.3	-	29	4272	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1382K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1382					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Y1381C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGTCCGTCTCGTATTTGGTC	0.532000														87			43		0	0	0.003610	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715802	68715802	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:68715802G>T	uc003jwq.3	+	1	664	c.590G>T	c.(589-591)gGt>gTt	p.G197V	MARVELD2_uc010ixf.3_Missense_Mutation_p.G197V|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	197	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGAATACTGGGTGTGGTGGAG	0.493000														75			28		4.22769e-11	4.31607e-11	0.006320	1	0
C1orf173	127254	broad.mit.edu	37	1	75037506	75037506	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:75037506C>T	uc001dgg.3	-	13	4107	c.3888G>A	c.(3886-3888)gaG>gaA	p.E1296E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1296	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTCCTCTTCCTCCTCTGGGT	0.532000														75			28		0	0	0.006320	0	0
XIRP2	129446	broad.mit.edu	37	2	168107877	168107877	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:168107877C>T	uc002udx.3	+	8	10064	c.9975C>T	c.(9973-9975)ttC>ttT	p.F3325F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F3150F|XIRP2_uc010fpq.3_Silent_p.F3103F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3150					actin cytoskeleton organization	cell junction	actin binding	p.F3325V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAAATTTCGTGAATGACC	0.448000														40			13		0	0	0.001855	0	0
C8B	732	broad.mit.edu	37	1	57399040	57399040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:57399040G>A	uc001cyp.3	-	9	1587	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L	C8B_uc010oon.2_Missense_Mutation_p.P445L|C8B_uc010ooo.2_Missense_Mutation_p.P455L	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	507	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCTTGGCAGGGAGCACAGTG	0.552000														44			17		0	0	0.006122	0	0
STYK1	55359	broad.mit.edu	37	12	10783863	10783863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:10783863C>T	uc001qys.2	-	4	753	c.232G>A	c.(232-234)Gga>Aga	p.G78R		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	78						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CCTCCATGTCCTGCTTCCCAG	0.562000										HNSCC(73;0.22)				49			24		0	0	0.002299	0	0
CPS1	1373	broad.mit.edu	37	2	211447396	211447396	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:211447396C>A	uc010fur.3	+	6	684	c.602C>A	c.(601-603)cCa>cAa	p.P201Q	CPS1_uc002vee.4_Missense_Mutation_p.P195Q	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	195	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.I201N(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTGTGGATCCAAATAAACAG	0.338000														39			10		0.00185496	0.00188231	0.001855	1	0
PXDNL	137902	broad.mit.edu	37	8	52384800	52384800	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:52384800G>A	uc003xqu.4	-	7	860	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	253	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCGGCAGGTGAAGTAGACGG	0.443000														72			29		0	0	0.003271	0	0
PLG	5340	broad.mit.edu	37	6	161123340	161123340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:161123340G>A	uc003qtm.4	+	0	116	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	PLG_uc021zhr.1_Missense_Mutation_p.E2K	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	2					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCAAAATGGAACATAAGGA	0.373000														64			14		0	0	0.007413	0	0
C1orf173	127254	broad.mit.edu	37	1	75038256	75038256	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:75038256C>T	uc001dgg.3	-	13	3357	c.3138G>A	c.(3136-3138)agG>agA	p.R1046R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1046	Glu-rich.							p.R1046S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAATTTCTTTCCTATCATCTT	0.453000														82			32		0	0	0.003755	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880252	42880252	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:42880252C>T	uc001chi.2	+	4	921	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	261	ATP-grasp.				protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCATTGATCTCCTTATCATGG	0.517000														146			63		0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228473858	228473858	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:228473858C>T	uc009xez.1	+	33	9128	c.9084C>T	c.(9082-9084)atC>atT	p.I3028I	OBSCN_uc001hsn.3_Silent_p.I3028I|OBSCN_uc001hsq.1_Silent_p.I284I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3028	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTGCCGGATCTCCCCGGCCA	0.627000														10			6		0	0	0.001168	0	0
UBE2V2	7336	broad.mit.edu	37	8	48962467	48962468	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:48962467_48962468CC>AT	uc003xqm.3	+	2	240_241	c.220_221CC>AT	c.(220-222)cca>ATa	p.P74I		NM_003350	NP_003341	Q15819	UB2V2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 2 (UBE2V2), mRNA.	74					DNA double-strand break processing|cell proliferation|protein polyubiquitination|regulation of DNA repair	UBC13-MMS2 complex|cytoplasm|nucleus	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				ACCTAAATACCCAGAAGCTCCT	0.297000								Rad6 pathway						22			6		0	0	0.004672	0	0
CNTN4	152330	broad.mit.edu	37	3	3072565	3072565	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:3072565C>T	uc003bpc.3	+	15	2028	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	CNTN4_uc003bpb.1_Silent_p.I234I|CNTN4_uc021wsg.1_Silent_p.I563I|CNTN4_uc003bpd.1_Silent_p.I563I|CNTN4_uc003bpe.3_Silent_p.I235I|CNTN4_uc003bpf.3_Silent_p.I234I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	563	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTTGATGATCCGAAACATCC	0.433000														20			7		0	0	0.004482	0	0
AADACL3	126767	broad.mit.edu	37	1	12785267	12785267	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12785267C>T	uc009vnn.1	+	3	590	c.357C>T	c.(355-357)tcC>tcT	p.S119S	AADACL3_uc001aug.1_Silent_p.S49S	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	119							hydrolase activity	p.S119S(1)|p.S49S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGAAGTCCCTGGATGCAT	0.512000														69			26		0	0	0.006320	0	0
NOS3	4846	broad.mit.edu	37	7	150695756	150695756	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:150695756G>A	uc003wif.3	+	6	1100	c.804G>A	c.(802-804)gtG>gtA	p.V268V	NOS3_uc011kuy.2_Silent_p.V62V|NOS3_uc011kva.2_Silent_p.V268V|NOS3_uc011kuz.2_Silent_p.V268V|NOS3_uc011kvb.2_Silent_p.V268V	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	268	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGCCAACGTGGAGATCACCG	0.657000														13			6		0	0	0.001168	0	0
LRBA	987	broad.mit.edu	37	4	151773485	151773485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:151773485G>A	uc010ipj.3	-	22	3621	c.3377C>T	c.(3376-3378)cCc>cTc	p.P1126L	LRBA_uc003ilt.4_5'Flank|LRBA_uc003ilu.4_Missense_Mutation_p.P1126L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1126						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GAGCTCTGTGGGTAGATTAGC	0.398000														28			12		0	0	0.002450	0	0
DPYD	1806	broad.mit.edu	37	1	97547948	97547948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:97547948C>T	uc001drv.3	-	21	2982	c.2845G>A	c.(2845-2847)Gat>Aat	p.D949N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	949	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATTTCTTCATCAATCATAGCC	0.393000														47			26		0	0	0.005443	0	0
DMWD	1762	broad.mit.edu	37	19	46289693	46289693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:46289693G>A	uc002pdj.1	-	2	1107	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	DMWD_uc021uwc.1_Missense_Mutation_p.P8S|DMWD_uc010eko.1_Missense_Mutation_p.S39F	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	354					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CTCGGTGAAGGACCACACGGT	0.647000														57			19		0	0	0.007413	0	0
HS1BP3	64342	broad.mit.edu	37	2	20838367	20838367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:20838367G>A	uc002rdw.1	-	3	493	c.452C>T	c.(451-453)tCt>tTt	p.S151F	HS1BP3_uc002rdx.3_Missense_Mutation_p.S151F	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	151					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCAGGACAGAGGAATCTCT	0.562000														22			12		0	0	0.001855	0	0
TCP10L2	401285	broad.mit.edu	37	6	167585642	167585642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:167585642G>A	uc010kkp.3	+	1	141	c.10G>A	c.(10-12)Ggt>Agt	p.G4S		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	4										endometrium(1)|kidney(2)|lung(3)	6						GATGCTGGAGGGTCAGCTCGA	0.657000														9			4		0	0	0.009096	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209184997	209184997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:209184997C>T	uc002vcz.3	+	16	2262	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	PIKFYVE_uc010fun.1_Missense_Mutation_p.P383S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P646S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	702					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATTAAAAACCCCAAAATTCT	0.303000														55			15		0	0	0.003163	0	0
LAMA1	284217	broad.mit.edu	37	18	6975027	6975027	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:6975027G>A	uc002knm.3	-	45	6592	c.6498C>T	c.(6496-6498)ttC>ttT	p.F2166F	LAMA1_uc010wzj.2_Silent_p.F1642F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2166	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACTGCAAGGAAATCAGACT	0.537000														9			7		0	0	0.003080	0	0
LRP1B	53353	broad.mit.edu	37	2	141215150	141215150	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:141215150C>T	uc002tvj.1	-	60	10668	c.9696G>A	c.(9694-9696)ggG>ggA	p.G3232G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTGGTTTTCCCATCAGTCC	0.428000										TSP Lung(27;0.18)				45			14		0	0	0.003163	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	A	A	rs146807462		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:24895592G>A	uc001upj.3	+	3	749	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	230	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428000														98			13		0	0	0.002450	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959158	10959158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:10959158G>A	uc010shh.2	-	0	422	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	141					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GACCAACAAGGAAATGGCAAA	0.408000														16			5		0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92085367	92085367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:92085367C>T	uc001pdj.4	+	0	106	c.89C>T	c.(88-90)tCc>tTc	p.S30F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	30					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCACTGTCTCCCAGGGGCTG	0.512000										TCGA Ovarian(4;0.039)				446			176		0	0	0.003610	0	0
CD109	135228	broad.mit.edu	37	6	74528148	74528148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:74528148G>A	uc003php.3	+	30	4380	c.3949G>A	c.(3949-3951)Gaa>Aaa	p.E1317K	CD109_uc003phq.3_Missense_Mutation_p.E1300K|CD109_uc010kba.3_Missense_Mutation_p.E1240K	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	1317						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCTCTTATGGAAGTTAACCT	0.423000														44			7		0	0	0.001984	0	0
SPTA1	6708	broad.mit.edu	37	1	158609395	158609395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:158609395C>T	uc001fst.1	-	34	5156	c.4957G>A	c.(4957-4959)Gag>Aag	p.E1653K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1653					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	p.L1652F(1)|p.L1652M(1)		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)					ATCTCTCTCTCCAATAGCTGA	0.483000														71			21		0	0	0.006320	0	0
SYCP1	6847	broad.mit.edu	37	1	115453118	115453118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:115453118G>A	uc001efr.3	+	16	1630	c.1421G>A	c.(1420-1422)aGa>aAa	p.R474K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R474K|SYCP1_uc009wgw.3_Missense_Mutation_p.R474K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	474					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCAAGCCAGAGAGGTTTGT	0.264000														18			13		0	0	0.002450	0	0
COL5A2	1290	broad.mit.edu	37	2	189962046	189962046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:189962046C>T	uc002uqk.3	-	5	688	c.413G>A	c.(412-414)gGa>gAa	p.G138E		NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	138					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCTGTGATCCTGGAGGTCC	0.408000														24			9		0	0	0.008291	0	0
ASB5	140458	broad.mit.edu	37	4	177138124	177138124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:177138124G>A	uc003iuq.2	-	5	821	c.707C>T	c.(706-708)cCa>cTa	p.P236L	ASB5_uc003iup.2_Missense_Mutation_p.P183L	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	236					intracellular signal transduction			p.P236S(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCATGTAATGGAGTATCCCA	0.388000														66			24		0	0	0.003330	0	0
ZP2	7783	broad.mit.edu	37	16	21211163	21211163	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:21211163G>A	uc010bwn.1	-	14	1903	c.1821C>T	c.(1819-1821)ttC>ttT	p.F607F	ZP2_uc002dii.2_Silent_p.F577F	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	577	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CGACTGGATGGAAGGTGGTCT	0.502000														50			17		0	0	0.007413	0	0
KCND2	3751	broad.mit.edu	37	7	120382645	120382645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:120382645G>A	uc003vjj.1	+	3	2421	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	486					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCACTGCCTGGAAAAAACCAC	0.473000														38			20		0	0	0.001882	0	0
ITK	3702	broad.mit.edu	37	5	156670802	156670802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:156670802G>A	uc003lwo.1	+	11	1312	c.1230G>A	c.(1228-1230)atG>atA	p.M410I		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	410	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAAGTAATGATGTGAGTGC	0.493000			T	SYK	peripheral T-cell lymphoma									146			52		0	0	0.003610	0	0
OR2C1	4993	broad.mit.edu	37	16	3406086	3406086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:3406086C>T	uc002cuw.1	+	0	198	c.146C>T	c.(145-147)tCc>tTc	p.S49F		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCTTGCTTTCCCGCCTGGAG	0.512000														81			27		0	0	0.006320	0	0
OR4X2	119764	broad.mit.edu	37	11	48267238	48267238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:48267238G>A	uc001ngs.1	+	0	583	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G195V(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGCCAATGGAGGCACCCT	0.498000														94			43		0	0	0.002522	0	0
ASXL3	80816	broad.mit.edu	37	18	31323829	31323829	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:31323829C>T	uc010dmg.1	+	11	4072	c.4017C>T	c.(4015-4017)acC>acT	p.T1339T	ASXL3_uc002kxq.2_Silent_p.T1046T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1339	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCAGTACACCTCTGTGCCAA	0.463000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		115			39		0	0	0.008740	0	0
GDF5	8200	broad.mit.edu	37	20	34025183	34025183	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:34025183G>A	uc010gfc.1	-	0	767	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	GDF5_uc002xck.1_Silent_p.L176L	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	176					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GTCCTGTACAGCGAGAGCATG	0.612000														54			32		0	0	0.002836	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711179	140711179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140711179G>A	uc003lji.2	+	0	928	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PCDHGC5_uc011dan.2_Missense_Mutation_p.E310K	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	311	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTAGATTTCGAAGAATACAA	0.373000														15			10		0	0	0.006214	0	0
ZNF667	63934	broad.mit.edu	37	19	56953217	56953217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:56953217C>T	uc002qne.3	-	6	1938	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	ZNF667_uc010etl.3_Missense_Mutation_p.E165K|ZNF667_uc002qnd.3_Missense_Mutation_p.E383K|ZNF667_uc010etm.3_Missense_Mutation_p.E326K	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TATAGTTTTTCTCCATTATGA	0.353000														29			15		0	0	0.002450	0	0
GK2	2712	broad.mit.edu	37	4	80328367	80328367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:80328367G>A	uc003hlu.3	-	0	1006	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	330					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTAGCCAACGAATAACAGCA	0.428000														53			14		0	0	0.003163	0	0
GRASP	160622	broad.mit.edu	37	12	52408956	52408956	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:52408956C>T	uc001rzo.1	+	7	1217	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	GRASP_uc001rzp.1_Silent_p.S244S	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	Homo sapiens GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein (GRASP), mRNA.	387						cell junction|perinuclear region of cytoplasm|postsynaptic membrane		p.S387F(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TCAACCGCTCCCTGGAGGAGG	0.642000														27			4		0	0	0.001168	0	0
PLCL2	23228	broad.mit.edu	37	3	17052594	17052594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:17052594G>A	uc011awc.2	+	2	1828	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	PLCL2_uc011awd.2_Missense_Mutation_p.E460K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	586					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGTTACTGACGAAGATGAAGG	0.423000														23			9		0	0	0.006214	0	0
IL17RC	84818	broad.mit.edu	37	3	9965687	9965687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:9965687C>T	uc003bua.3	+	7	1176	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Missense_Mutation_p.R224W|IL17RC_uc003btz.3_Missense_Mutation_p.R249W|IL17RC_uc011atp.2_Missense_Mutation_p.R105W|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.R249W|IL17RC_uc010hcu.3_Missense_Mutation_p.R249W|IL17RC_uc003bub.3_Missense_Mutation_p.R234W|IL17RC_uc010hcv.3_Missense_Mutation_p.R234W|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.R234W	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	320						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCCAAAACCCCGGTGGCACAA	0.577000														40			7		0	0	0.003080	0	0
MINOS1	440574	broad.mit.edu	37	1	19949983	19949983	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:19949983T>C	uc021ohu.1	+	2	197	c.128T>C	c.(127-129)tTa>tCa	p.L43S	MINOS1_uc001bch.2_Non-coding_Transcript|MINOS1_uc001bci.2_Missense_Mutation_p.L43S|MINOS1_uc021oht.1_Missense_Mutation_p.L27S|MINOS1_uc021ohv.1_Non-coding_Transcript|NBL1_uc021ohw.1_Intron|NBL1_uc009vpl.2_Intron	NM_001204083	NP_001191012	Q5TGZ0	CA151_HUMAN	Homo sapiens mitochondrial inner membrane organizing system 1 (MINOS1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	43						integral to membrane|mitochondrion											ATGTGGCCATTAGCCTTCGGT	0.393000														77			33		0	0	0.003271	0	0
OR51M1	390059	broad.mit.edu	37	11	5411136	5411136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:5411136C>T	uc010qzc.2	+	0	530	c.508C>T	c.(508-510)Cct>Tct	p.P170S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	170						integral to membrane	olfactory receptor activity	p.I169>?(2)|p.P170H(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACTATCCCTATTGTCCT	0.547000														124			49		0	0	0.003610	0	0
ZNF598	90850	broad.mit.edu	37	16	2052210	2052210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:2052210C>T	uc002cof.1	-	6	907	c.892G>A	c.(892-894)Gag>Aag	p.E298K	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	298						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCTCACCCTCGTTCCGGCGC	0.692000														8			4		0	0	0.009096	0	0
SH3BP2	6452	broad.mit.edu	37	4	2831772	2831773	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:2831772_2831773CC>TT	uc003gfi.4	+	7	1259_1260	c.1139_1140CC>TT	c.(1138-1140)ccc>cTT	p.P380L	SH3BP2_uc011bvp.2_Missense_Mutation_p.P408L|SH3BP2_uc003gfj.4_Missense_Mutation_p.P437L|SH3BP2_uc003gfk.4_Missense_Mutation_p.P380L|SH3BP2_uc003gfl.4_Missense_Mutation_p.P313L|SH3BP2_uc003gfm.4_Missense_Mutation_p.P355L	NM_001122681	NP_003014	P78314	3BP2_HUMAN	Homo sapiens SH3-domain binding protein 2 (SH3BP2), transcript variant 2, mRNA.	380					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTTGTGCCCCCCGTGGCTCCCC	0.683000									Cherubism					33			11		0	0	0.004672	0	0
CD244	51744	broad.mit.edu	37	1	160832449	160832449	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:160832449T>A	uc009wtq.3	-	0	244	c.19A>T	c.(19-21)Acc>Tcc	p.T7S	CD244_uc001fxa.3_Missense_Mutation_p.T7S|CD244_uc009wtr.3_Missense_Mutation_p.T7S|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	7					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGTATGAGGGTGACCACTTGC	0.642000														27			12		0	0	0.003163	0	0
TRA	0	broad.mit.edu	37	14	22192421	22192421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:22192421C>T	uc021rpa.1	+	1	324	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F	TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																		CCTCCAGTTCCTTCTGAAATA	0.448000														40			15		0	0	0.003163	0	0
MAPK4	5596	broad.mit.edu	37	18	48190536	48190536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:48190536C>T	uc002lev.3	+	1	1208	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.R70W	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	70	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CAAGATCATTCGGCGCCTGGA	0.607000														32			21		0	0	0.002780	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:17226675G>A	uc010hev.3	-	20	2108	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	TBC1D5_uc010heu.3_Missense_Mutation_p.S180F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S593F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S593F|TBC1D5_uc010hew.1_Missense_Mutation_p.S567F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	593						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGAAGGAAGGAAATTTGGGC	0.368000														26			15		0	0	0.002450	0	0
C11orf73	51501	broad.mit.edu	37	11	86017395	86017395	+	Missense_Mutation	SNP	C	T	T	rs11539213		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:86017395C>T	uc001pbu.3	+	1	377	c.139C>T	c.(139-141)Cct>Tct	p.P47S	C11orf73_uc010rto.2_Intron|C11orf73_uc010rtp.2_Intron|C11orf73_uc001pbv.3_Non-coding_Transcript	NM_016401	NP_057485	Q53FT3	CK073_HUMAN	Homo sapiens chromosome 11 open reading frame 73 (C11orf73), transcript variant 1, mRNA.	47			P -> A (in dbSNP:rs11539213).			cytoplasm				kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				AATCCCATTTCCTGAGGGAAT	0.423000														31			12		0	0	0.000978	0	0
IGSF9B	22997	broad.mit.edu	37	11	133807341	133807341	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:133807341T>C	uc001qgx.4	-	4	840	c.609A>G	c.(607-609)agA>agG	p.R203R	IGSF9B_uc001qgy.1_Silent_p.R45R	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	203	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGTAGGCACCTCTGTCCTCCC	0.607000														19			6		0	0	0.001984	0	0
NLRP10	338322	broad.mit.edu	37	11	7984979	7984979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:7984979C>T	uc001mfv.1	-	0	81	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	22	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAATCGTTCTCCTCAAGGTCA	0.567000														29			7		0	0	0.004482	0	0
KRT73	319101	broad.mit.edu	37	12	53005009	53005009	+	Silent	SNP	C	T	T	rs115352534	by1000genomes	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:53005009C>T	uc001sas.3	-	5	1124	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	363	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTCTCAATCTCCGAGCGCA	0.567000														41			22		0	0	0.002780	0	0
MAP3K4	4216	broad.mit.edu	37	6	161510469	161510469	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:161510469A>G	uc003qtn.3	+	10	3081	c.2939A>G	c.(2938-2940)cAg>cGg	p.Q980R	MAP3K4_uc010kkc.1_Missense_Mutation_p.Q980R|MAP3K4_uc003qto.3_Missense_Mutation_p.Q980R|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.Q433R|MAP3K4_uc003qtp.3_5'Flank	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	980					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACATCCAGTCAGCCGGTCATC	0.463000														106			25		0	0	0.008361	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430981	37430981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:37430981G>A	uc021ppc.1	+	6	1087	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E330K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	386						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATCGCATGGGAGAAAAAAGA	0.438000														44			24		0	0	0.004656	0	0
CERS6	253782	broad.mit.edu	37	2	169487543	169487543	+	Silent	SNP	C	T	T	rs146884858		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:169487543C>T	uc002uec.1	+	3	580	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CERS6_uc002ueb.1_Silent_p.F152F	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	152	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.F152F(1)									GAGTCAGATTCCTGAAAAAGG	0.294000														38			17		0	0	0.008871	0	0
OTUD4	54726	broad.mit.edu	37	4	146076605	146076605	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:146076605G>A	uc003ika.4	-	9	774	c.636C>T	c.(634-636)tcC>tcT	p.S212S		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	276							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CAGCAGCAATGGAATAATCAC	0.299000														30			6		0	0	0.001984	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270515	153270515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:153270515C>T	uc001fbn.1	-	6	996	c.943G>A	c.(943-945)Ggc>Agc	p.G315S		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	315					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCACTGTGGCCCATCAGCAGG	0.577000														164			53		0	0	0.003610	0	0
KIAA0564	23078	broad.mit.edu	37	13	42189183	42189183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:42189183G>A	uc001uyj.3	-	37	4719	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1550						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GTGTTTGGGGGAGCTTACATC	0.493000														31			7		0	0	0.001984	0	0
SDSL	113675	broad.mit.edu	37	12	113865885	113865885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:113865885C>T	uc001tvi.3	+	2	305	c.98C>T	c.(97-99)cCt>cTt	p.P33L	SDSL_uc009zwh.3_Missense_Mutation_p.P33L	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	33					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	p.P33P(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GCGGGCATGCCTGTCTTCCTC	0.612000														11			6		0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9088781	9088781	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9088781T>C	uc002mkp.3	-	0	3238	c.3034A>G	c.(3034-3036)Act>Gct	p.T1012A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1012	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A1011T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATAGAAGTTGCTTCCATG	0.478000														91			41		0	0	0.008740	0	0
CD70	970	broad.mit.edu	37	19	6590921	6590921	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:6590921C>T	uc010xjf.1	-	0	243	c.93G>A	c.(91-93)gtG>gtA	p.V31V	CD70_uc002mfi.3_Silent_p.V31V	NM_001252	NP_001243	P32970	CD70_HUMAN	Homo sapiens CD70 molecule (CD70), mRNA.	31					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						CGAGGCAGATCACCAAGCCCG	0.642000														51			32		0	0	0.002836	0	0
CACNB4	785	broad.mit.edu	37	2	152727112	152727112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:152727112G>A	uc002tya.3	-	7	700	c.632C>T	c.(631-633)cCt>cTt	p.P211L	CACNB4_uc002txy.3_Missense_Mutation_p.P177L|CACNB4_uc002txz.3_Missense_Mutation_p.P193L|CACNB4_uc010fnz.3_Missense_Mutation_p.P211L|CACNB4_uc021vre.1_Missense_Mutation_p.P177L|CACNB4_uc002tyb.2_Missense_Mutation_p.P177L	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	211					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATCGTAAGGAGGAATGTGCTC	0.463000														7			7		0	0	0.001984	0	0
OR4C46	119749	broad.mit.edu	37	11	51515548	51515548	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:51515548C>T	uc010ric.2	+	0	267	c.267C>T	c.(265-267)gcC>gcT	p.A89A		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAAAGAAGGCCATCCTATTCA	0.463000														74			29		0	0	0.007291	0	0
SCD5	79966	broad.mit.edu	37	4	83601897	83601897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:83601897C>T	uc003hna.2	-	2	852	c.532G>A	c.(532-534)Gac>Aac	p.D178N	SCD5_uc003hnb.4_Missense_Mutation_p.D178N	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	178					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GCAAGCAGGTCAGTGACGTCA	0.532000														39			18		0	0	0.006122	0	0
LNX1	84708	broad.mit.edu	37	4	54344801	54344801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:54344801C>T	uc003hag.4	-	7	1850	c.1594G>A	c.(1594-1596)Gat>Aat	p.D532N	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D436N|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	532	PDZ 3.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATAGGCAAATCCCATTCTCTA	0.443000														59			26		0	0	0.006320	0	0
GABRB1	2560	broad.mit.edu	37	4	47427930	47427930	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:47427930C>T	uc003gxh.3	+	8	1694	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	GABRB1_uc011bze.2_Silent_p.I370I	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	440					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGTCAAGATCCCCGACTTGA	0.562000														44			20		0	0	0.007413	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253818	134253818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:134253818C>T	uc001qhq.3	-	3	638	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	B3GAT1_uc001qhr.3_Missense_Mutation_p.R126Q|B3GAT1_uc010scv.1_Missense_Mutation_p.R139Q	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	126					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CAGCGGCGTCCGGCGCGGCGC	0.711000														11			6		0	0	0.001984	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622175	41622175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:41622175G>A	uc002opu.1	+	1	138	c.82G>A	c.(82-84)Gga>Aga	p.G28R	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.G28R|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	28					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AAGAGATAAGGGAAAGCTGCC	0.567000														88			33		0	0	0.005524	0	0
USH2A	7399	broad.mit.edu	37	1	215844436	215844436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:215844436C>T	uc001hku.1	-	63	14398	c.14011G>A	c.(14011-14013)Gaa>Aaa	p.E4671K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4671	Fibronectin type-III 32.				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)		CTGTATAATTCGTAATACAAA	0.418000										HNSCC(13;0.011)				59			16		0	0	0.003163	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061813	41061813	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41061813G>A	uc003jmj.4	-	5	964	c.474C>T	c.(472-474)ttC>ttT	p.F158F	HEATR7B2_uc021xxt.1_Silent_p.F158F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	158							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGGCTTTGCTGAATTTCTCAA	0.418000														25			6		0	0	0.001168	0	0
PIK3R6	146850	broad.mit.edu	37	17	8726721	8726721	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:8726721G>A	uc002glq.1	-	13	1849	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	537					platelet activation	cytosol											GTGTAGATCTGGAAATAGATG	0.557000														17			7		0	0	0.001984	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281442	49281442	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:49281442G>A	uc010acw.1	+	1	779	c.489G>A	c.(487-489)tgG>tgA	p.W163*	CYSLTR2_uc010acx.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010acy.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010acz.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010ada.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010adb.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010adc.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010add.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc001vck.2_Nonsense_Mutation_p.W163*|CYSLTR2_uc021rjl.1_Nonsense_Mutation_p.W163*	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	163					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GGATCATATGGATCCTTATCA	0.498000														64			20		0	0	0.002299	0	0
C4orf37	285555	broad.mit.edu	37	4	98480264	98480264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:98480264G>A	uc003htt.2	-	10	1415	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	442										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TTTCTCCTGGGATATCTGTTT	0.279000														61			22		0	0	0.003954	0	0
KIF1A	547	broad.mit.edu	37	2	241682373	241682373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:241682373G>A	uc010fzk.3	-	33	3860	c.3613C>T	c.(3613-3615)Cct>Tct	p.P1205S	KIF1A_uc002vzy.3_Missense_Mutation_p.P1104S|KIF1A_uc002vzz.2_Missense_Mutation_p.P1205S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1104					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATGACCCGAGGGAAGTGGCGG	0.662000														10			4		0	0	0.009096	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72165736	72165736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:72165736C>T	uc001xms.3	+	10	3774	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1138F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1138F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1138F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S613F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1138					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACGGTCTCATCCATGGCTTTA	0.483000														34			18		0	0	0.007413	0	0
ERC2	26059	broad.mit.edu	37	3	56330430	56330430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:56330430C>T	uc021wzo.1	-	1	831	c.691G>A	c.(691-693)Gag>Aag	p.E231K	ERC2_uc003dhr.1_Missense_Mutation_p.E231K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	231						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTTCGCAGCTCATCTTGAAGG	0.512000														36			15		0	0	0.002450	0	0
SNX33	257364	broad.mit.edu	37	15	75949417	75949417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:75949417C>T	uc002bau.3	+	1	1682	c.1586C>T	c.(1585-1587)gCc>gTc	p.A529V	SNX33_uc002bav.3_Missense_Mutation_p.A142V	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	529	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GCCCTGCAGGCCGAGATGAAC	0.627000														33			19		0	0	0.010504	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837676	12837676	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12837676G>A	uc001aui.3	+	2	1413	c.1386G>A	c.(1384-1386)agG>agA	p.R462R		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	462										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGCATCAGGGCCTCCTATG	0.502000														64			21		0	0	0.002299	0	0
TRHDE	29953	broad.mit.edu	37	12	73012798	73012798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:73012798G>A	uc001sxa.3	+	12	2344	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	772					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGACCGCATGGAAAACTACAA	0.333000														28			6		0	0	0.003080	0	0
PSEN1	5663	broad.mit.edu	37	14	73640349	73640349	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:73640349C>T	uc001xnr.3	+	4	698	c.414C>T	c.(412-414)atC>atT	p.I138I	PSEN1_uc001xnv.3_Silent_p.I134I|PSEN1_uc010ark.3_Silent_p.I134I|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript|PSEN1_uc001xnq.4_Silent_p.I138I	NM_000021	NP_000012	P49768	PSN1_HUMAN	Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.	138					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum	PDZ domain binding|aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		ATGCTGCCATCATGATCAGTG	0.443000														44			21		0	0	0.010504	0	0
SORCS3	22986	broad.mit.edu	37	10	106924109	106924109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:106924109C>T	uc001kyi.1	+	11	2008	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	594						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGTTCATCTCCTCCGATGGG	0.438000														18			12		0	0	0.001855	0	0
C12orf63	374467	broad.mit.edu	37	12	97051840	97051840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:97051840G>A	uc021rcc.1	+	3	634	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	186										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGAAAAATGGGAAACACTAGT	0.333000														31			9		0	0	0.006214	0	0
ACER1	125981	broad.mit.edu	37	19	6312490	6312490	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:6312490G>A	uc002mel.2	-	1	192	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	38						endoplasmic reticulum membrane|integral to membrane	ceramidase activity	p.F38fs*6(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GCCCGAAGATGAAGAAGGGGA	0.557000														67			26		0	0	0.008361	0	0
MYH7B	57644	broad.mit.edu	37	20	33589805	33589805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:33589805G>A	uc002xbi.2	+	43	6174	c.5857G>A	c.(5857-5859)Gat>Aat	p.D1953N		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1911						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCACGAGCTGGATGATGCGGA	0.667000														26			14		0	0	0.002450	0	0
NLRP11	204801	broad.mit.edu	37	19	56319282	56319282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:56319282C>T	uc010ygf.2	-	5	2651	c.1940G>A	c.(1939-1941)gGt>gAt	p.G647D	NLRP11_uc002qlz.3_Intron|NLRP11_uc002qmb.3_Missense_Mutation_p.G548D|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	647							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTCTGAAATACCATTAAGGTC	0.433000														48			21		0	0	0.002299	0	0
SPAG16	79582	broad.mit.edu	37	2	214727214	214727214	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:214727214C>G	uc002veq.3	+	10	1168	c.1076C>G	c.(1075-1077)tCc>tGc	p.S359C	SPAG16_uc010fuz.2_Missense_Mutation_p.S210C|SPAG16_uc002ver.3_Missense_Mutation_p.S305C|SPAG16_uc010zjk.2_Missense_Mutation_p.S265C	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	359					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CGCAGTGTCTCCATGCAACCC	0.448000														37			15		0	0	0.003163	0	0
PROSER1	80209	broad.mit.edu	37	13	39587627	39587627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:39587627C>T	uc001uwy.3	-	10	2635	c.1762G>A	c.(1762-1764)Ggt>Agt	p.G588S	PROSER1_uc001uwz.3_Missense_Mutation_p.G566S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	588	Ser-rich.																TCTGAGGTACCTGGGTGGGGG	0.532000														73			30		0	0	0.002836	0	0
SPC25	57405	broad.mit.edu	37	2	169733823	169733823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:169733823C>T	uc002uel.3	-	3	402	c.271G>A	c.(271-273)Ggc>Agc	p.G91S		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	91	Interaction with the N-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TGCTTTTTGCCTTTTACTTCA	0.338000														37			13		0	0	0.001368	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790338	133790338	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:133790338G>A	uc001qgx.4	-	17	3513	c.3282C>T	c.(3280-3282)atC>atT	p.I1094I		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1094	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGAGACAGGATGCCCGGGT	0.716000														27			17		0	0	0.006122	0	0
KCNH6	81033	broad.mit.edu	37	17	61620959	61620959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:61620959C>T	uc002jay.3	+	9	2251	c.2171C>T	c.(2170-2172)tCc>tTc	p.S724F	KCNH6_uc010wpl.2_Missense_Mutation_p.S601F|KCNH6_uc010wpm.2_Missense_Mutation_p.S724F|KCNH6_uc002jaz.1_Missense_Mutation_p.S671F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	724					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTCCACTCATCCCCCCGACAG	0.597000														88			18		0	0	0.007413	0	0
GRIK4	2900	broad.mit.edu	37	11	120745931	120745931	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:120745931C>T	uc001pxn.2	+	10	1430	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	GRIK4_uc009zav.1_Silent_p.F381F|GRIK4_uc009zaw.1_Silent_p.F381F|GRIK4_uc009zax.1_Silent_p.F381F	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	381					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCTTACAGTTCACAAGGAATG	0.493000														21			11		0	0	0.000978	0	0
PTPRD	5789	broad.mit.edu	37	9	8521541	8521541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:8521541G>A	uc003zkk.3	-	19	1440	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	PTPRD_uc003zkp.3_Missense_Mutation_p.R233C|PTPRD_uc003zkq.3_Missense_Mutation_p.R233C|PTPRD_uc003zkr.3_Missense_Mutation_p.R227C|PTPRD_uc003zks.3_Missense_Mutation_p.R223C|PTPRD_uc022bdj.1_Missense_Mutation_p.R230C	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	233					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R232C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTGGGACACGGCGAACTGGA	0.448000										TSP Lung(15;0.13)				13			15		0	0	0.003163	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029693	13029693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:13029693G>A	uc002wod.1	+	1	507	c.218G>A	c.(217-219)gGa>gAa	p.G73E	SPTLC3_uc002woc.3_Missense_Mutation_p.G73E	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	73					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TATGGAATTGGAACCCTGTTT	0.398000														44			28		0	0	0.006320	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21790049	21790049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:21790049G>A	uc001wag.3	+	12	1648	c.1648G>A	c.(1648-1650)Gat>Aat	p.D550N	RPGRIP1_uc001wah.3_Missense_Mutation_p.D192N|RPGRIP1_uc001wai.3_Missense_Mutation_p.D192N|RPGRIP1_uc001waj.1_Missense_Mutation_p.D26N|RPGRIP1_uc001wak.3_Missense_Mutation_p.D25N|RPGRIP1_uc010aim.3_5'UTR|RPGRIP1_uc001wal.3_5'UTR|RPGRIP1_uc001wam.3_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	550					response to stimulus|visual perception	cilium		p.E549*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGCTGACAATGATAATAGAGA	0.383000														15			6		0	0	0.001168	0	0
TDRD1	56165	broad.mit.edu	37	10	115985945	115985945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:115985945C>T	uc001lbg.1	+	21	3298	c.3145C>T	c.(3145-3147)Cct>Tct	p.P1049S	TDRD1_uc001lbf.3_Missense_Mutation_p.P926S|TDRD1_uc001lbh.1_Missense_Mutation_p.P1036S|TDRD1_uc001lbi.1_Missense_Mutation_p.P1040S|TDRD1_uc010qsc.2_Missense_Mutation_p.P653S|TDRD1_uc001lbj.3_Missense_Mutation_p.P758S	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1049					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCTGGCGCTTCCTTTCCAAAT	0.408000														15			5		0	0	0.000602	0	0
S100A9	6280	broad.mit.edu	37	1	153330852	153330852	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:153330852C>T	uc001fbq.3	+	1	136	c.93C>T	c.(91-93)acC>acT	p.T31T		NM_002965	NP_002956	P06702	S10A9_HUMAN	Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA.	31	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCAGACACCCTGAACCAGG	0.522000														17			9		0	0	0.006214	0	0
DNAH2	146754	broad.mit.edu	37	17	7680855	7680855	+	Missense_Mutation	SNP	T	C	C	rs147602777	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:7680855T>C	uc002giu.1	+	31	5164	c.5150T>C	c.(5149-5151)aTt>aCt	p.I1717T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1717	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGATAGAAATTCATGCCCGG	0.478000														228			106		0	0	0.003610	0	0
TERT	7015	broad.mit.edu	37	5	1260658	1260659	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:1260658_1260659CC>TT	uc003jcb.1	-	11	2958_2959	c.2900_2901GG>AA	c.(2899-2901)ggg>gAA	p.G967E	TERT_uc003jbz.1_Missense_Mutation_p.G163E|TERT_uc003jcc.1_Missense_Mutation_p.G904E|TERT_uc003jca.1_Missense_Mutation_p.G955E|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.G119E	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	967	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCATGTTCCTCCCAGCCTTGAA	0.574000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					32			17		0	0	0.004672	0	0
DNAH10	196385	broad.mit.edu	37	12	124341748	124341748	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:124341748T>C	uc001uft.4	+	35	6255	c.6230T>C	c.(6229-6231)gTa>gCa	p.V2077A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2077	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACGATGCGGTAGAGCAGGTC	0.527000														21			16		0	0	0.008871	0	0
OR13C4	138804	broad.mit.edu	37	9	107288635	107288635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:107288635C>T	uc011lvn.2	-	0	856	c.856G>A	c.(856-858)Gtt>Att	p.V286I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGGGTCACAACCCCATAAAAC	0.403000														34			14		0	0	0.001855	0	0
FAM83B	222584	broad.mit.edu	37	6	54806047	54806047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:54806047G>A	uc003pck.3	+	4	2394	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	760										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCAAAGAAGGAAGTTAAGGG	0.368000														49			11		0	0	0.008291	0	0
NCKAP1	10787	broad.mit.edu	37	2	183859598	183859598	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:183859598G>A	uc002upc.3	-	7	1161	c.759C>T	c.(757-759)ctC>ctT	p.L253L	NCKAP1_uc002upb.3_Silent_p.L259L	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	253					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATCCAAAGAGAGGTATTCAC	0.343000														69			24		0	0	0.003330	0	0
CACNA1S	779	broad.mit.edu	37	1	201019617	201019617	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:201019617T>C	uc001gvv.3	-	33	4368	c.4141A>G	c.(4141-4143)Atg>Gtg	p.M1381V		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1381	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.M1381I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAATTGTCCATGATGACAGCC	0.552000														33			15		0	0	0.003163	0	0
MYO1H	283446	broad.mit.edu	37	12	109826641	109826641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:109826641C>T	uc010sxn.1	+	0	118	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	166						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAGCGAGAACCTCATATACGT	0.493000														146			60		0	0	0.003610	0	0
TDRD9	122402	broad.mit.edu	37	14	104472727	104472727	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:104472727T>C	uc001yom.4	+	16	1744	c.1714_splice	c.e16-1	p.V572_splice	TDRD9_uc001yon.4_Splice_Site_p.V310_splice	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	572					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTATAAAGGTTGGAGCACTT	0.393000														38			15		0	0	0.003163	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835238	12835238	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:12835238G>A	uc001aui.3	+	0	255	c.228G>A	c.(226-228)gaG>gaA	p.E76E		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	76										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTAATCTAGAGATCTTTCGAG	0.577000														45			22		0	0	0.003330	0	0
ACOX3	8310	broad.mit.edu	37	4	8375329	8375329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:8375329C>T	uc010idk.3	-	15	2000	c.1855G>A	c.(1855-1857)Gga>Aga	p.G619R	ACOX3_uc003glc.4_Missense_Mutation_p.G619R|ACOX3_uc003gld.4_Intron	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	619					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AACACTTCTCCCGCCTGCTCA	0.597000														11			4		0	0	0.000602	0	0
ATP2B3	492	broad.mit.edu	37	X	152826321	152826321	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:152826321C>T	uc004fht.1	+	16	3153	c.3027C>T	c.(3025-3027)atC>atT	p.I1009I	ATP2B3_uc004fhs.1_Silent_p.I1009I|ATP2B3_uc010nuf.1_Silent_p.I32I|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1009					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCACCATCGTTTTGGGCA	0.567000														10			15		0	0	0.002450	0	0
METTL22	79091	broad.mit.edu	37	16	8732970	8732970	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:8732970C>T	uc002cyz.3	+	5	999	c.723C>T	c.(721-723)tcC>tcT	p.S241S	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	241							methyltransferase activity			large_intestine(5)|lung(4)	9						ATCTCTTGTCCATGTGCCAGC	0.542000														32			16		0	0	0.006122	0	0
CES3	23491	broad.mit.edu	37	16	67000697	67000697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:67000697G>A	uc002eqt.3	+	7	1070	c.991G>A	c.(991-993)Gag>Aag	p.E331K	CES3_uc010cdz.3_Missense_Mutation_p.E331K|CES3_uc010viw.2_5'Flank	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	331						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		ACTCCTGAAGGAGAAGCCCTT	0.542000														209			33		0	0	0.004289	0	0
DSCR10	259234	broad.mit.edu	37	21	39580464	39580464	+	RNA	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:39580464G>A	uc010gnt.2	+	2		c.586G>A								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		TTTCTGTGCAGAGCCATGCTC	0.547000														159			51		0	0	0.003610	0	0
SNAP91	9892	broad.mit.edu	37	6	84303377	84303377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:84303377G>A	uc021zcf.1	-	16	1546	c.1516C>T	c.(1516-1518)Cct>Tct	p.P506S	SNAP91_uc011dzd.2_Missense_Mutation_p.P9S|SNAP91_uc003pka.3_Missense_Mutation_p.P504S|SNAP91_uc011dze.2_Missense_Mutation_p.P504S|SNAP91_uc003pkc.3_Missense_Mutation_p.P504S|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.P469S	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	506	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTAACTACAGGAACACTGGTC	0.572000														29			6		0	0	0.001168	0	0
FPR3	2359	broad.mit.edu	37	19	52327323	52327323	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:52327323A>G	uc002pxt.1	+	1	506	c.322A>G	c.(322-324)Aac>Gac	p.N108D	FPR3_uc021uyq.1_Missense_Mutation_p.N108D	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	108					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GATAGACATCAACCTGTTTGT	0.478000														24			14		0	0	0.001855	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189534	92189534	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:92189534C>T	uc001xzs.1	-	4	309	c.169_splice	c.e4-1	p.K57_splice		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	57					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ACTGGATTTTCTTTAGGAAAG	0.353000														19			6		0	0	0.001168	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446660	169446660	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:169446660G>A	uc001gge.4	-	1	744	c.540C>T	c.(538-540)gtC>gtT	p.V180V	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	180					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CTGCCACTGAGACAAGGATTT	0.512000														27			10		0	0	0.008291	0	0
FANCC	2176	broad.mit.edu	37	9	98009753	98009753	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:98009753A>G	uc022bkl.1	-	2	415	c.211T>C	c.(211-213)Ttg>Ctg	p.L71L	FANCC_uc004avh.3_Silent_p.L71L|FANCC_uc004avi.4_Silent_p.L71L|FANCC_uc010mrm.1_Non-coding_Transcript|FANCC_uc011lul.1_Non-coding_Transcript	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	71					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GCTTTTGCCAACAGTTGACCA	0.328000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					54			14		0	0	0.003163	0	0
abParts	0	broad.mit.edu	37	14	106725293	106725293	+	RNA	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106725293A>G	uc021ser.1	-	927		c.22219T>C								Parts of antibodies, mostly variable regions.																		GAGATGGTGAACCGGCCCTTC	0.552000														103			37		0	0	0.004289	0	0
PLCG1	5335	broad.mit.edu	37	20	39792111	39792111	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:39792111C>T	uc002xjp.1	+	8	1004	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	PLCG1_uc002xjo.1_Silent_p.L295L|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	295					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ATACTTCTTCCTGGATGAGGT	0.567000														27			11		0	0	0.000978	0	0
STAC	6769	broad.mit.edu	37	3	36484998	36484998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:36484998C>T	uc003cgh.1	+	1	293	c.254C>T	c.(253-255)cCa>cTa	p.P85L	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Missense_Mutation_p.P85L	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	85					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AGCTCCAGCCCACTCCCTGCT	0.562000														42			20		0	0	0.008871	0	0
COBLL1	22837	broad.mit.edu	37	2	165548907	165548907	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:165548907C>T	uc002ucp.3	-	13	3460	c.3238_splice	c.e13-1	p.E1080_splice	COBLL1_uc002ucq.3_Splice_Site_p.E1042_splice|COBLL1_uc010zcw.2_Splice_Site_p.E1147_splice|COBLL1_uc010zcx.2_Splice_Site_p.E1088_splice|COBLL1_uc002ucn.3_Splice_Site_p.E508_splice|COBLL1_uc002uco.3_Splice_Site_p.E811_splice	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1118										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GAGTTATTTTCCTACAAAAAT	0.318000														17			7		0	0	0.001984	0	0
ZPBP	11055	broad.mit.edu	37	7	49977183	49977183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:49977183C>T	uc003tou.3	-	7	1067	c.997G>A	c.(997-999)Gga>Aga	p.G333R	ZPBP_uc010kyw.3_Missense_Mutation_p.G332R	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	333					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CAATGAATTCCATCACGGGGG	0.353000														49			17		0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179639101	179639101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179639101C>T	uc021vsy.1	-	29	7115	c.6890G>A	c.(6889-6891)gGa>gAa	p.G2297E	TTN_uc021vsz.1_Missense_Mutation_p.G2251E|TTN_uc021vta.1_Missense_Mutation_p.G2251E|TTN_uc021vtb.1_Missense_Mutation_p.G2251E|TTN_uc002unb.2_Missense_Mutation_p.G2297E|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2297	Ig-like 12.						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)			ATACCATTTTCCTTCTATATT	0.393000														56			19		0	0	0.010504	0	0
PLCL2	23228	broad.mit.edu	37	3	17052138	17052138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:17052138C>T	uc011awc.2	+	2	1372	c.1276C>T	c.(1276-1278)Cat>Tat	p.H426Y	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.H308Y	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	434	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H308D(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACCTCTGTCTCATTACTTTAT	0.393000														67			16		0	0	0.004990	0	0
SEMA4F	10505	broad.mit.edu	37	2	74889939	74889939	+	Silent	SNP	A	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:74889939A>C	uc002sna.1	+	4	648	c.537A>C	c.(535-537)gcA>gcC	p.A179A	SEMA4F_uc010ysb.1_Intron|SEMA4F_uc021vjn.1_Silent_p.A179A|SEMA4F_uc010ffq.1_Silent_p.A146A|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_Intron|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	179	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AGCGGTCAGCAGCTGTAATGG	0.507000														67			16		0	0	0.004007	0	0
UCHL1	7345	broad.mit.edu	37	4	41265263	41265263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:41265263C>T	uc003gvo.3	+	6	577	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	UCHL1_uc003gvp.3_Missense_Mutation_p.H80Y	NM_004181	NP_004172	P09936	UCHL1_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.	161					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	p.H161Y(2)|p.F160F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GGTGAATTTCCATTTTATTCT	0.333000														39			14		0	0	0.004007	0	0
AFF2	2334	broad.mit.edu	37	X	148062317	148062317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:148062317G>A	uc004fcp.3	+	18	4099	c.3620G>A	c.(3619-3621)gGa>gAa	p.G1207E	AFF2_uc004fcq.3_Missense_Mutation_p.G1197E|AFF2_uc004fcr.3_Missense_Mutation_p.G1168E|AFF2_uc011mxb.2_Missense_Mutation_p.G1172E|AFF2_uc004fcs.3_Missense_Mutation_p.G1172E|AFF2_uc011mxc.2_Missense_Mutation_p.G848E	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1207					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTAAGCAATGGAAAGTAAGTA	0.368000														11			22		0	0	0.001882	0	0
SCN10A	6336	broad.mit.edu	37	3	38768199	38768199	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38768199G>A	uc003ciq.3	-	15	2985	c.2985C>T	c.(2983-2985)gtC>gtT	p.V995V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	995					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGGCACAGAGACCCACACAG	0.567000														22			18		0	0	0.008871	0	0
CDH12	1010	broad.mit.edu	37	5	22078763	22078763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:22078763G>A	uc010iuc.2	-	1	481	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CDH12_uc011cno.1_Missense_Mutation_p.S8F|CDH12_uc003jgk.2_Missense_Mutation_p.S8F	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	8					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGAAGCAGGGATAAACAGTT	0.438000										HNSCC(59;0.17)				68			30		0	0	0.006320	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617294	77617294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:77617294G>A	uc003yau.2	+	1	1358	c.971G>A	c.(970-972)gGg>gAg	p.G324E	ZFHX4_uc003yat.1_Missense_Mutation_p.G324E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G324E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G324G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAATACAGGGGATTGGCAAA	0.433000										HNSCC(33;0.089)				46			15		0	0	0.004990	0	0
TRPM6	140803	broad.mit.edu	37	9	77339653	77339653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:77339653C>T	uc004ajl.1	-	38	6183	c.5945G>A	c.(5944-5946)aGa>aAa	p.R1982K	TRPM6_uc004ajk.1_Missense_Mutation_p.R1977K|TRPM6_uc022bib.1_Missense_Mutation_p.R1977K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R933K|TRPM6_uc010mpd.1_Missense_Mutation_p.R815K|TRPM6_uc010mpe.1_Missense_Mutation_p.R529K|TRPM6_uc004ajj.1_Missense_Mutation_p.R938K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1982					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R1982I(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATAGTCATTTCTTTTTAAATC	0.413000														31			13		0	0	0.002450	0	0
ANKH	56172	broad.mit.edu	37	5	14758637	14758637	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:14758637C>T	uc003jfm.4	-	2	715	c.384G>A	c.(382-384)acG>acA	p.T128T		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	128					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGGCCCTTCTCGTCTTGCTCC	0.448000														24			8		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	14	106848758	106848758	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:106848758C>T	uc021ser.1	-	472		c.14223G>A								Parts of antibodies, mostly variable regions.																		GGCATCATCTCTGGAGAGGGT	0.483000														11			5		0	0	0.000602	0	0
CASZ1	54897	broad.mit.edu	37	1	10713648	10713648	+	Silent	SNP	A	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:10713648A>C	uc001aro.3	-	10	2786	c.2466T>G	c.(2464-2466)ggT>ggG	p.G822G	CASZ1_uc001arp.1_Silent_p.G822G|CASZ1_uc009vmx.2_Silent_p.G846G	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACGACACGGCACCCAGGAGGC	0.711000														21			14		0	0	0.002450	0	0
SPTA1	6708	broad.mit.edu	37	1	158624513	158624513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:158624513C>T	uc001fst.1	-	20	3123	c.2924G>A	c.(2923-2925)gGa>gAa	p.G975E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	975					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)					TCCAGCAACTCCCTCCACTGG	0.512000														33			13		0	0	0.002450	0	0
ZNF609	23060	broad.mit.edu	37	15	64968228	64968228	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:64968228C>T	uc002ann.3	+	3	3175	c.3175C>T	c.(3175-3177)Ctg>Ttg	p.L1059L		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1059						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGACAGACCTGGTGAAATC	0.562000														39			21		0	0	0.002299	0	0
KIF24	347240	broad.mit.edu	37	9	34306349	34306349	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:34306349T>C	uc003zua.4	-	2	834	c.714A>G	c.(712-714)gtA>gtG	p.V238V	KIF24_uc010mkb.3_Silent_p.V269V	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	238	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCCACGACGTACCTCCCTCA	0.408000														138			50		0	0	0.003610	0	0
NNMT	4837	broad.mit.edu	37	11	114182969	114182969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:114182969C>T	uc001por.1	+	4	829	c.565C>T	c.(565-567)Cca>Tca	p.P189S	NNMT_uc001pos.1_Missense_Mutation_p.P189S	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	189					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCTACTGAAGCCAGGGGGCTT	0.627000														45			13		0	0	0.002450	0	0
OR11H12	440153	broad.mit.edu	37	14	19377829	19377829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:19377829G>A	uc010tkp.2	+	0	236	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGTTCCTGGGAAATTTCTCC	0.413000														43			24		0	0	0.008361	0	0
C6	729	broad.mit.edu	37	5	41159289	41159289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41159289G>A	uc003jmk.2	-	11	1961	c.1751C>T	c.(1750-1752)tCg>tTg	p.S584L	C6_uc003jml.1_Missense_Mutation_p.S584L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	584	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.S584L(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCGGGTTCTCGATCTCTTATA	0.498000														38			21		0	0	0.010504	0	0
MATK	4145	broad.mit.edu	37	19	3778521	3778521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:3778521G>A	uc002lyt.3	-	12	1670	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	MATK_uc002lyv.3_Missense_Mutation_p.P425S|MATK_uc002lyu.3_Missense_Mutation_p.P383S|MATK_uc010dtq.3_Missense_Mutation_p.P423S	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	424	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTAGGGTACGGAGCCCGTCCA	0.647000														9			7		0	0	0.001984	0	0
WDR12	55759	broad.mit.edu	37	2	203762097	203762097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:203762097G>A	uc002uzl.3	-	4	1130	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	127	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCCTTCCAAGGACCAGATCCG	0.378000														252			108		0	0	0.003610	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331429	140331429	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:140331429G>A	uc004cmw.3	-	4	631	c.447C>T	c.(445-447)gtC>gtT	p.V149V	ENTPD8_uc004cmx.3_Silent_p.V149V|ENTPD8_uc004cmy.2_3'UTR	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	149						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		ACCGGCCCAGGACCTGGGTGA	0.662000														37			18		0	0	0.006122	0	0
ZNF335	63925	broad.mit.edu	37	20	44581339	44581339	+	Silent	SNP	G	A	A	rs143040607		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:44581339G>A	uc002xqw.3	-	18	2835	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	ZNF335_uc002xqv.3_Silent_p.P16P|ZNF335_uc010zxk.2_Silent_p.P749P	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTCTCCTGCGGGCTCCTCGC	0.572000														40			11		0	0	0.000978	0	0
CSMD1	64478	broad.mit.edu	37	8	3267060	3267060	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:3267060G>A	uc022aqr.1	-	12	2019	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	CSMD1_uc011kwj.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	544	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCATGGAGGAAACTGCTGC	0.507000														5			4		0	0	0.009096	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811773	25811773	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:25811773C>T	uc003nfh.4	-	10	1147	c.1031_splice	c.e10-1	p.G344_splice	SLC17A1_uc011djy.2_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.G344_splice|SLC17A1_uc010jqc.1_Splice_Site_p.G288_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	344					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAGGAGAAATCCTGGGGAGTG	0.473000														50			13		0	0	0.001368	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354227	45354227	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:45354227C>T	uc002xsl.3	+	1	649	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	184						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCCTCCTCTTCCTCCCTGCTG	0.627000														40			15		0	0	0.002450	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558451	140558451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:140558451C>T	uc011dai.2	+	0	1081	c.836C>T	c.(835-837)tCc>tTc	p.S279F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	279	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S279F(2)|p.S279S(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGAGATTTCCTATTCACTT	0.413000														129			21		0	0	0.010504	0	0
LAMA5	3911	broad.mit.edu	37	20	60897381	60897381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:60897381G>A	uc002ycq.3	-	46	6357	c.6290C>T	c.(6289-6291)cCc>cTc	p.P2097L	LAMA5_uc021wfw.1_Missense_Mutation_p.P2097L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2097	Laminin EGF-like 21.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGCACTGGGGTCCCATGGT	0.721000														11			7		0	0	0.001984	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498448	123498448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:123498448G>A	uc001uej.1	-	2	419	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	PITPNM2_uc001uek.1_Missense_Mutation_p.R74C|PITPNM2_uc009zxu.1_Missense_Mutation_p.R74C	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	74					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	p.F73L(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGATGGAGCGGAACCAGCTG	0.622000														39			16		0	0	0.006122	0	0
DCX	1641	broad.mit.edu	37	X	110544926	110544926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:110544926C>T	uc004epd.3	-	6	1487	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	DCX_uc011msv.2_Missense_Mutation_p.D444N|DCX_uc004epe.3_Missense_Mutation_p.D358N|DCX_uc004epf.3_Missense_Mutation_p.D363N|DCX_uc004epg.3_Missense_Mutation_p.D358N	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	439					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TACATGGAATCACCAAGCGAG	0.448000														18			26		0	0	0.002096	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57088096	57088096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:57088096G>A	uc001njr.3	-	1	497	c.185C>T	c.(184-186)cCt>cTt	p.P62L	TNKS1BP1_uc001njs.3_Missense_Mutation_p.P62L|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	62	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGGCCCAACAGGCACCAGCAG	0.662000														24			13		0	0	0.003163	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361348	70361348	+	Missense_Mutation	SNP	G	A	A	rs41299976		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:70361348G>A	uc003hek.4	-	0	279	c.232C>T	c.(232-234)Cct>Tct	p.P78S	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.P78S	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	78			P -> T.		estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAAGATACAGGATAAACTTCA	0.383000														30			15		0	0	0.002450	0	0
RIMS2	9699	broad.mit.edu	37	8	105260996	105260996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:105260996C>T	uc003yls.3	+	24	3839	c.3598C>T	c.(3598-3600)Cct>Tct	p.P1200S	RIMS2_uc003ylp.3_Missense_Mutation_p.P1182S|RIMS2_uc003ylw.2_Missense_Mutation_p.P1189S|RIMS2_uc003ylq.3_Missense_Mutation_p.P996S|RIMS2_uc003ylr.3_Missense_Mutation_p.P1021S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1244					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGCCTTGGCCCTGCTCAGCT	0.438000										HNSCC(12;0.0054)				44			15		0	0	0.004007	0	0
POTEE	445582	broad.mit.edu	37	2	131976336	131976336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:131976336G>A	uc002tsn.2	+	0	413	c.361G>A	c.(361-363)Gga>Aga	p.G121R	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	121							ATP binding										GGGCGCTTGGGGAGACTACGA	0.602000														58			21		0	0	0.001882	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204226948	204226948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:204226948G>A	uc001hau.3	-	8	1374	c.1057C>T	c.(1057-1059)Ccc>Tcc	p.P353S	PLEKHA6_uc009xaw.1_5'UTR|PLEKHA6_uc009xax.1_5'UTR|PLEKHA6_uc009xay.1_5'UTR|PLEKHA6_uc009xaz.1_5'UTR|PLEKHA6_uc009xba.1_5'UTR|PLEKHA6_uc009xbb.1_5'UTR|PLEKHA6_uc009xbc.1_5'UTR	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	353	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GAGGAGTAGGGGCCATAGTAC	0.587000														45			18		0	0	0.006122	0	0
PTPRB	5787	broad.mit.edu	37	12	71029530	71029530	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:71029530C>T	uc001swc.4	-	1	417	c.372G>A	c.(370-372)agG>agA	p.R124R	PTPRB_uc001swa.4_Silent_p.R124R|PTPRB_uc001swd.4_Silent_p.R123R|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Silent_p.R124R	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T123T(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAGGTATTTCCTGGCCTTCT	0.463000														30			9		0	0	0.008291	0	0
SYNE1	23345	broad.mit.edu	37	6	152542123	152542123	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:152542123G>A	uc021zhb.1	-	116	21938	c.21715C>T	c.(21715-21717)Cag>Tag	p.Q7239*	SYNE1_uc003qos.4_Nonsense_Mutation_p.Q1763*|SYNE1_uc003qot.4_Nonsense_Mutation_p.Q7168*|SYNE1_uc003qou.4_Nonsense_Mutation_p.Q7239*|SYNE1_uc003qor.4_Nonsense_Mutation_p.Q139*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7239					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCCAAAGCTGAAGTAGGGCC	0.468000										HNSCC(10;0.0054)				63			16		0	0	0.004007	0	0
PBRM1	55193	broad.mit.edu	37	3	52649472	52649473	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:52649472_52649473CC>TT	uc003des.2	-	15	1831	c.1819_splice	c.e15-1	p.V607_splice	PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.V607_splice|PBRM1_uc003der.2_Splice_Site_p.V575_splice|PBRM1_uc003det.2_Splice_Site_p.V622_splice|PBRM1_uc003deu.2_Splice_Site_p.V622_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.V607_splice|PBRM1_uc010hmk.1_Splice_Site_p.V607_splice|PBRM1_uc003dey.2_Splice_Site_p.V607_splice|PBRM1_uc003dez.1_Splice_Site_p.V607_splice|PBRM1_uc003dfb.1_Splice_Site_p.V520_splice|PBRM1_uc003dfc.3_Splice_Site	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	607	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATTATAAACCTACATTCCAA	0.337000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									27			7		0	0	0.004672	0	0
CKAP4	10970	broad.mit.edu	37	12	106633345	106633346	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:106633345_106633346GG>AA	uc001tlk.3	-	1	1349_1350	c.1265_1266CC>TT	c.(1264-1266)tcc>tTT	p.S422F		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	422						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACCTGCATGGAGAGCACCCC	0.658000														60			11		0	0	0.004672	0	0
WRNIP1	56897	broad.mit.edu	37	6	2783763	2783763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:2783763G>A	uc003mtz.3	+	4	1801	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	WRNIP1_uc003mua.3_Missense_Mutation_p.R512Q	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	537					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	p.R537L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TACGTGGCACGGAGGCTTGTC	0.602000														25			5		0	0	0.000602	0	0
ATR	545	broad.mit.edu	37	3	142188402	142188402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:142188402G>A	uc003eux.4	-	37	6451	c.6329C>T	c.(6328-6330)tCc>tTc	p.S2110F	ATR_uc003euy.1_5'UTR	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2110	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TACACGATCGGAGCGGCCAGC	0.323000								Other conserved DNA damage response genes						27			8		0	0	0.003080	0	0
ALS2	57679	broad.mit.edu	37	2	202593243	202593243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:202593243G>A	uc002uyo.3	-	14	3189	c.2833C>T	c.(2833-2835)Cat>Tat	p.H945Y	ALS2_uc002uyp.4_Missense_Mutation_p.H945Y|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	945	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACCTGGGCATGGACCAGGGCA	0.463000														58			32		0	0	0.004289	0	0
ACAN	176	broad.mit.edu	37	15	89398533	89398533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:89398533C>T	uc010upo.1	+	11	3091	c.2717C>T	c.(2716-2718)tCc>tTc	p.S906F	ACAN_uc010upp.1_Missense_Mutation_p.S906F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	906					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTCTTACTTCCACAGTGGGC	0.572000														25			5		0	0	0.000602	0	0
TMX1	81542	broad.mit.edu	37	14	51713810	51713810	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:51713810T>C	uc001wza.4	+	4	440	c.315_splice	c.e4-1	p.H105_splice	TMX1_uc010aoa.3_Splice_Site_p.S21_splice	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 1 (TMX1), mRNA.	105	Thioredoxin.				DNA replication|ER to Golgi vesicle-mediated transport|anti-apoptosis|cell proliferation|cell redox homeostasis|electron transport chain|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						TTCTCTTTAGTTGTAAAGATG	0.313000														20			14		0	0	0.004990	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606068	21606068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:21606068C>T	uc003cce.3	-	2	682	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	92						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AAACTTACATCAGAATTAAAT	0.328000														22			11		0	0	0.000978	0	0
COL18A1	80781	broad.mit.edu	37	21	46900762	46900762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr21:46900762C>T	uc002zhi.3	+	11	2162	c.2141C>T	c.(2140-2142)cCt>cTt	p.P714L	COL18A1_uc002zhg.3_Missense_Mutation_p.P534L	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	949	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCGGGTTTCCTGGCCTCCCG	0.711000														9			9		0	0	0.000978	0	0
SLC26A8	116369	broad.mit.edu	37	6	35967773	35967773	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:35967773G>A	uc003olm.3	-	3	552	c.441C>T	c.(439-441)tcC>tcT	p.S147S	SLC26A8_uc003oll.3_Silent_p.S147S|SLC26A8_uc003oln.3_Silent_p.S147S	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	147					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACTCACCAATGGACATTTGAT	0.398000														121			37		0	0	0.005524	0	0
OR51I1	390063	broad.mit.edu	37	11	5462528	5462528	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:5462528G>A	uc010qze.2	-	0	256	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACACTCCCAGATCATTGAGA	0.463000														27			23		0	0	0.002299	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361650	105361650	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:105361650G>A	uc003ylx.1	+	1	919	c.870G>A	c.(868-870)agG>agA	p.R290R		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	290					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTAAAGAAAGGAAAAACCTGG	0.493000														56			24		0	0	0.003954	0	0
SCN11A	11280	broad.mit.edu	37	3	38889158	38889158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:38889158G>A	uc021wvy.1	-	25	4602	c.4403C>T	c.(4402-4404)gCt>gTt	p.A1468V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1468					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCCAATCCGAGCCAAGCGGAC	0.488000														16			5		0	0	0.001168	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117779493	117779493	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:117779493C>T	uc001prs.2	-	8	1262	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	TMPRSS13_uc009yzr.2_Silent_p.R337R|TMPRSS13_uc021qrc.1_Silent_p.R372R|TMPRSS13_uc001prt.1_Silent_p.R51R|TMPRSS13_uc001pru.2_Silent_p.R372R	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	367	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGACCTTCTCCCGGGTCCTGC	0.607000														13			7		0	0	0.003080	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765998	18765998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:18765998C>T	uc010exr.3	-	3	623	c.511G>A	c.(511-513)Gac>Aac	p.D171N	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.D229N|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.D169N|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.D229N|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.D212N|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.D246N|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.D231N|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.D169N|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.D21N	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	229	Pro-rich.|Ser-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GGCTGCGAGTCCCGGGTCTGG	0.677000														22			10		0	0	0.001368	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378226	31378226	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:31378226G>A	uc003tch.3	-	1	1010	c.657C>T	c.(655-657)ccC>ccT	p.P219P	NEUROD6_uc022abi.1_Silent_p.P219P	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	219					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CATGCCCTGGGGGAGTGGTGA	0.527000														63			13		0	0	0.002450	0	0
GNA14	9630	broad.mit.edu	37	9	80046330	80046330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:80046330G>A	uc004aku.3	-	3	1023	c.500C>T	c.(499-501)tCa>tTa	p.S167L		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	167					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AGGCACGAATGATGGTGTGGC	0.483000														22			15		0	0	0.004990	0	0
TG	7038	broad.mit.edu	37	8	133895059	133895059	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:133895059G>A	uc003ytw.3	+	8	931	c.890_splice	c.e8-1	p.C297_splice		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	297	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTCCTCTAGGCCCCACAAAA	0.498000														27			10		0	0	0.000978	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720162	160720162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:160720162C>T	uc001fwq.3	+	3	733	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	SLAMF7_uc010pjn.2_Missense_Mutation_p.L146F|SLAMF7_uc001fws.3_Missense_Mutation_p.L133F|SLAMF7_uc001fwr.3_Missense_Mutation_p.L240F|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	240					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGCTCAGTCTCTTTGTACT	0.502000														99			44		0	0	0.003610	0	0
VNN2	8875	broad.mit.edu	37	6	133070846	133070846	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:133070846A>G	uc003qdt.3	-	5	1370	c.1359T>C	c.(1357-1359)ccT>ccC	p.P453P	VNN2_uc003qds.3_Silent_p.P162P|VNN2_uc010kgb.3_Silent_p.P232P|VNN2_uc003qdv.3_Silent_p.P400P	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	453					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CAAATTTTCCAGGTGACAGAT	0.363000														13			4		0	0	0.009096	0	0
CACNA1B	774	broad.mit.edu	37	9	140938267	140938267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:140938267G>A	uc004cog.3	+	20	3473	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K	CACNA1B_uc022bqn.1_Missense_Mutation_p.E1110K|CACNA1B_uc011mfd.2_Missense_Mutation_p.E711K|CACNA1B_uc004coi.3_Missense_Mutation_p.E320K	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1110					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGGGAAGAAGGAGGTGGAAGC	0.587000														94			37		0	0	0.004289	0	0
KHDC1	80759	broad.mit.edu	37	6	73951815	73951815	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:73951815A>G	uc003pgo.3	-	3	978	c.477T>C	c.(475-477)tgT>tgC	p.C159C	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Silent_p.C86C	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	159						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						TCCCCACACAACAAAACATGT	0.522000														35			5		0	0	0.000602	0	0
DGKG	1608	broad.mit.edu	37	3	185983042	185983042	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:185983042G>A	uc003fqa.3	-	13	1800	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V	DGKG_uc003fqb.3_Silent_p.V382V|DGKG_uc003fqc.3_Silent_p.V421V|DGKG_uc011brx.2_Intron	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	421					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTACCTGCATGACAAGTTCGC	0.507000														18			7		0	0	0.003080	0	0
MERTK	10461	broad.mit.edu	37	2	112761519	112761519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:112761519G>A	uc002thk.1	+	12	1947	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	MERTK_uc002thl.1_Missense_Mutation_p.E433K	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	609	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCTTAAGCAGGAAGATGGGAC	0.463000														40			11		0	0	0.008291	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560379	44560379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:44560379C>T	uc003tlb.3	-	13	3177	c.3121G>A	c.(3121-3123)Gat>Aat	p.D1041N	NPC1L1_uc011kbw.2_Missense_Mutation_p.D995N|NPC1L1_uc003tlc.3_Missense_Mutation_p.D1041N|NPC1L1_uc003tla.3_Missense_Mutation_p.D44N	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1041					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACCTGGCCATCTGAAGTCAAG	0.567000														39			20		0	0	0.010504	0	0
EMB	133418	broad.mit.edu	37	5	49706754	49706754	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:49706754G>A	uc003jom.3	-	3	678	c.429C>T	c.(427-429)ttC>ttT	p.F143F	EMB_uc003jol.3_Silent_p.F74F|EMB_uc011cpy.2_Silent_p.F93F	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	143	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCTCTCGAAAGAAACAAGAAT	0.289000														15			8		0	0	0.008291	0	0
ASB15	142685	broad.mit.edu	37	7	123269216	123269216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:123269216G>A	uc003vku.1	+	9	1460	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	ASB15_uc003vkw.1_Missense_Mutation_p.A390T	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	390					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGCAGTGAGGGCCAATAATTA	0.438000														43			9		0	0	0.006214	0	0
P4HA3	283208	broad.mit.edu	37	11	73990439	73990439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:73990439C>T	uc010rrj.2	-	7	1212	c.1169G>A	c.(1168-1170)aGc>aAc	p.S390N	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.S390N			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	390						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TTACCTTTTGCTGATGCGGTA	0.537000														79			34		0	0	0.004878	0	0
WARS	7453	broad.mit.edu	37	14	100809692	100809692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:100809692G>A	uc001yhh.1	-	7	1240	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	WARS_uc001yhi.1_Missense_Mutation_p.P246S|WARS_uc001yhg.2_Missense_Mutation_p.P287S|WARS_uc001yhl.1_Missense_Mutation_p.P287S|WARS_uc001yhk.1_Missense_Mutation_p.P246S	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	287					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTGAAGGAGGGAGCAGCCTGG	0.458000														11			3		0	0	0.009096	0	0
RELN	5649	broad.mit.edu	37	7	103113260	103113260	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:103113260C>T	uc022ajr.1	-	64	10542	c.10382G>A	c.(10381-10383)tGa>tAa	p.*3461*	RELN_uc022ajq.1_3'UTR|RELN_uc010liz.3_Silent_p.*3459*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	0					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTGATTCTTCATGGGTATCG	0.363000														16			7		0	0	0.001984	0	0
DSC2	1824	broad.mit.edu	37	18	28659870	28659870	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:28659870C>A	uc002kwl.4	-	10	2060	c.1606G>T	c.(1606-1608)Gag>Tag	p.E536*	DSC2_uc002kwk.4_Nonsense_Mutation_p.E536*	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	536	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTCTCTGCCTCTCTATCCAGG	0.388000														45			24		2.89027e-11	2.95268e-11	0.002299	1	0
C19orf46	163183	broad.mit.edu	37	19	36494300	36494300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:36494300G>A	uc002ocq.1	-	7	1243	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V	C19orf46_uc021utd.1_Missense_Mutation_p.A272V|C19orf46_uc002ocr.1_Silent_p.C325C|C19orf46_uc002ocs.1_Missense_Mutation_p.A272V|C19orf46_uc010een.1_Missense_Mutation_p.A300V	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	Homo sapiens chromosome 19 open reading frame 46 (C19orf46), mRNA.	385	KASH.				establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGTATTCGGGCATGAGAGCA	0.552000														15			3		0	0	0.004672	0	0
RGS22	26166	broad.mit.edu	37	8	101076099	101076099	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:101076099C>T	uc003yjb.1	-	7	1092	c.897G>A	c.(895-897)caG>caA	p.Q299Q	RGS22_uc003yja.1_Silent_p.Q118Q|RGS22_uc003yjc.1_Silent_p.Q287Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Silent_p.Q203Q	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	299					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATCAACATCCTGTTTCTTTT	0.363000														49			25		0	0	0.006320	0	0
EMB	133418	broad.mit.edu	37	5	49701641	49701641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:49701641C>T	uc003jom.3	-	4	767	c.518G>A	c.(517-519)gGg>gAg	p.G173E	EMB_uc010ivq.3_5'Flank|EMB_uc003jol.3_Missense_Mutation_p.G104E|EMB_uc011cpy.2_Missense_Mutation_p.G123E	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	173	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AGTAGAATCCCCTACGTAAGA	0.353000														22			13		0	0	0.001855	0	0
CWH43	80157	broad.mit.edu	37	4	49005819	49005819	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:49005819C>T	uc003gyv.3	+	6	1052	c.870C>T	c.(868-870)ttC>ttT	p.F290F	CWH43_uc011bzl.2_Silent_p.F263F	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	290					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGTGTCTTCGCCATCTTTA	0.488000														30			21		0	0	0.001882	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340052	29340052	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:29340052G>A	uc002kxa.2	-	0	792	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	191					transport	integral to membrane|mitochondrial inner membrane		p.F191F(1)|p.F201F(1)									CTCGAAGGCCGAAAAACAAGA	0.473000														40			15		0	0	0.008871	0	0
HFE	3077	broad.mit.edu	37	6	26091188	26091188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:26091188C>T	uc003nfx.1	+	1	356	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	HFE_uc003nfy.1_Missense_Mutation_p.R43C|HFE_uc010jqe.1_Missense_Mutation_p.R66C|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.R66C|HFE_uc003ngb.1_Missense_Mutation_p.R66C|HFE_uc003ngc.1_Missense_Mutation_p.R66C|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	66	Alpha-1.		R -> C (in HFE).		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATGAGAGTCGCCGTGTGGA	0.522000									Hemochromatosis					43			42		0	0	0.009718	0	0
TTN	7273	broad.mit.edu	37	2	179643697	179643697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179643697C>T	uc021vsy.1	-	23	4337	c.4112G>A	c.(4111-4113)gGa>gAa	p.G1371E	TTN_uc021vsz.1_Missense_Mutation_p.G1325E|TTN_uc021vta.1_Missense_Mutation_p.G1325E|TTN_uc021vtb.1_Missense_Mutation_p.G1325E|TTN_uc002unb.2_Missense_Mutation_p.G1371E|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1371	Ig-like 5.						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)			AATTGCATTTCCTTTAATATT	0.448000														24			9		0	0	0.004482	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1144728	1144728	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:1144728G>A	uc010uuw.1	-	2	469	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_207419	NP_997302	P60827	C1QT8_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 8 (C1QTNF8), mRNA.	65						collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				TGAGGATTTCGATGTCTATAG	0.672000														32			13		0	0	0.001368	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242178	5242178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:5242178G>A	uc003jdl.3	+	16	2674	c.2536G>A	c.(2536-2538)Gga>Aga	p.G846R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G846R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	846	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCTGTTTCAGGGAAGGAACCC	0.488000														40			9		0	0	0.008291	0	0
DNAH8	1769	broad.mit.edu	37	6	38805726	38805726	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:38805726C>T	uc021yzh.1	+	32	4483	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	DNAH8_uc003ooe.2_Silent_p.F1241F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGCCAGTTTCGATGATCTGT	0.323000														20			9		0	0	0.004482	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519234	113519234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:113519234G>A	uc010ljy.1	-	3	1944	c.1913C>T	c.(1912-1914)tCa>tTa	p.S638L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	638					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AATCCCACCTGATTTTTCTTC	0.378000														31			14		0	0	0.001855	0	0
NADSYN1	55191	broad.mit.edu	37	11	71185492	71185492	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:71185492C>T	uc001oqn.3	+	8	844	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	240	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGGGGACCGCCTGTACTACGA	0.562000														52			17		0	0	0.010504	0	0
PAN2	9924	broad.mit.edu	37	12	56717878	56717878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:56717878C>T	uc001skx.3	-	12	2397	c.2020G>A	c.(2020-2022)Gtg>Atg	p.V674M	PAN2_uc001skw.3_5'UTR|PAN2_uc001sky.3_Missense_Mutation_p.V674M|PAN2_uc001skz.3_Missense_Mutation_p.V673M	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	674					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGGCTCGCACGGTCTCACTG	0.537000														59			29		0	0	0.006320	0	0
ATRN	8455	broad.mit.edu	37	20	3559287	3559287	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:3559287T>C	uc002wim.2	+	14	2502	c.2412T>C	c.(2410-2412)acT>acC	p.T804T	ATRN_uc002wil.2_Silent_p.T804T|ATRN_uc021vzz.1_Silent_p.T688T	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	804	C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AAATTACTACTGCCAAGGAGA	0.363000														38			17		0	0	0.010504	0	0
DDX17	10521	broad.mit.edu	37	22	38902171	38902171	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:38902171C>T	uc003avy.4	-	0	175	c.72G>A	c.(70-72)gtG>gtA	p.V24V	DDX17_uc003avx.4_Silent_p.V24V|DDX17_uc011anu.2_Intron	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	0	Poly-Gly.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCGCAGACGCCACCGTCGCCG	0.697000														6			4		0	0	0.009096	0	0
SREK1	140890	broad.mit.edu	37	5	65470862	65470862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:65470862C>T	uc003jun.3	+	9	1693	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	SREK1_uc010iwy.3_Missense_Mutation_p.P409S|SREK1_uc003juo.3_Missense_Mutation_p.P409S	NM_001077199	NP_631907	Q8WXA9	SREK1_HUMAN	Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA.	409					RNA splicing|mRNA processing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						ATCTCCGTCCCCCAGGAGGTA	0.363000														13			9		0	0	0.006214	0	0
CCDC88C	440193	broad.mit.edu	37	14	91805701	91805701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:91805701G>A	uc010aty.3	-	7	884	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	CCDC88C_uc010twk.1_Missense_Mutation_p.L208F	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	244					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCGCTAGAGAGGCTGCTGGTG	0.662000														19			5		0	0	0.001984	0	0
DCDC2	51473	broad.mit.edu	37	6	24301956	24301956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:24301956C>T	uc003ndx.3	-	3	846	c.544G>A	c.(544-546)Ggg>Agg	p.G182R	DCDC2_uc003ndy.3_Missense_Mutation_p.G182R	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	182	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration			p.G182W(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TGAACAGCCCCGCTCCTCAGA	0.448000														103			31		0	0	0.002836	0	0
REXO1L1	254958	broad.mit.edu	37	8	86575257	86575257	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:86575257T>G	uc022axf.1	-	0	470	c.470A>C	c.(469-471)aAc>aCc	p.N157T		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	157						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CGGACCCCTGTTTTGGGGCTC	0.672000														8			3		0	0	0.004672	0	0
IL13RA1	3597	broad.mit.edu	37	X	117895132	117895132	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:117895132C>T	uc004eqs.3	+	5	751	c.708C>T	c.(706-708)ctC>ctT	p.L236L	IL13RA1_uc004eqr.1_Silent_p.L236L	NM_001560	NP_001551	P78552	I13R1_HUMAN	Homo sapiens interleukin 13 receptor, alpha 1 (IL13RA1), mRNA.	236						interleukin-13 receptor complex	cytokine receptor activity	p.L236P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TTAAAAACCTCTCCTTCCACA	0.373000														17			34		0	0	0.003755	0	0
UBR4	23352	broad.mit.edu	37	1	19431085	19431085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:19431085G>A	uc001bbi.3	-	85	12725	c.12721C>T	c.(12721-12723)Ctc>Ttc	p.L4241F	UBR4_uc010ocw.2_5'Flank|UBR4_uc001bbg.3_5'UTR|UBR4_uc001bbh.3_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4241					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTACCTGTGAGACTTTTAAGG	0.517000														19			3		0	0	0.004672	0	0
LEPR	3953	broad.mit.edu	37	1	66102401	66102401	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:66102401C>T	uc001dci.3	+	19	3590	c.3201C>T	c.(3199-3201)ttC>ttT	p.F1067F	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	1067					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGGAAATTTCCCTGAAGAAA	0.358000														63			24		0	0	0.002780	0	0
OR6C75	390323	broad.mit.edu	37	12	55759618	55759618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:55759618C>T	uc010spk.2	+	0	724	c.724C>T	c.(724-726)Cat>Tat	p.H242Y		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTGCTCCTCCCATATGATAGT	0.398000														29			16		0	0	0.003163	0	0
CABS1	85438	broad.mit.edu	37	4	71201035	71201035	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:71201035G>A	uc003hff.3	+	0	365	c.279G>A	c.(277-279)caG>caA	p.Q93Q	CABS1_uc021xoz.1_Silent_p.Q93Q	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	93						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCACCTACAGAAAGAAATTA	0.373000														24			18		0	0	0.008871	0	0
COL4A5	1287	broad.mit.edu	37	X	107814658	107814658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:107814658C>T	uc022ccg.1	+	6	602	c.400C>T	c.(400-402)Cca>Tca	p.P134S	COL4A5_uc004enz.1_Missense_Mutation_p.P134S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	134	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACGTGGATTTCCAGGCAGTCC	0.368000									Alport syndrome with Diffuse Leiomyomatosis					45			44		0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	89992916	89992916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:89992916G>A	uc003kju.3	+	33	8204	c.8108G>A	c.(8107-8109)gGa>gAa	p.G2703E	GPR98_uc003kjt.3_Missense_Mutation_p.G409E|GPR98_uc003kjv.3_Missense_Mutation_p.G303E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2703					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATGTGGCAGGAATTGTTAGC	0.393000														66			33		0	0	0.007835	0	0
MMRN1	22915	broad.mit.edu	37	4	90856447	90856447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:90856447G>A	uc003hst.3	+	5	1687	c.1616G>A	c.(1615-1617)aGc>aAc	p.S539N	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.S281N	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	539					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.S539T(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAGTCAGTTAGCAATAATGTC	0.363000														26			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179640203	179640203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:179640203C>T	uc021vsy.1	-	27	6613	c.6388G>A	c.(6388-6390)Gaa>Aaa	p.E2130K	TTN_uc021vsz.1_Missense_Mutation_p.E2084K|TTN_uc021vta.1_Missense_Mutation_p.E2084K|TTN_uc021vtb.1_Missense_Mutation_p.E2084K|TTN_uc002unb.2_Missense_Mutation_p.E2130K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2130	Ig-like 10.						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)			ACATTGTCTTCGGGCCAGTAC	0.483000														26			10		0	0	0.000978	0	0
USP28	57646	broad.mit.edu	37	11	113700029	113700029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:113700029G>A	uc001poh.3	-	9	982	c.949C>T	c.(949-951)Cct>Tct	p.P317S	USP28_uc001pog.3_Missense_Mutation_p.P25S|USP28_uc010rwy.2_Missense_Mutation_p.P192S|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P317S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	317					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCTGAAGAGGATACTGGCCG	0.443000														25			19		0	0	0.008871	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762670	24762670	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:24762670A>C	uc001iru.4	+	5	1763	c.1360A>C	c.(1360-1362)Aaa>Caa	p.K454Q	KIAA1217_uc001irs.3_Missense_Mutation_p.K374Q|KIAA1217_uc001irt.4_Missense_Mutation_p.K454Q|KIAA1217_uc010qcy.2_Missense_Mutation_p.K454Q|KIAA1217_uc010qcz.2_Missense_Mutation_p.K454Q|KIAA1217_uc001irv.1_Missense_Mutation_p.K304Q|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.K172Q|KIAA1217_uc001irz.3_Missense_Mutation_p.K172Q|KIAA1217_uc001irx.3_Missense_Mutation_p.K172Q|KIAA1217_uc001iry.3_Missense_Mutation_p.K172Q	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	454					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTACAGACAGAAATCAAGGAA	0.493000														31			10		0	0	0.008291	0	0
ACOX2	8309	broad.mit.edu	37	3	58519835	58519835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:58519835C>T	uc003dkl.3	-	3	536	c.361G>A	c.(361-363)Gtc>Atc	p.V121I		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	121					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCACGAAGACTCTGTGTATA	0.537000														50			19		0	0	0.001882	0	0
C6	729	broad.mit.edu	37	5	41159280	41159280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41159280C>T	uc003jmk.2	-	11	1970	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	C6_uc003jml.1_Missense_Mutation_p.R587Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	587	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTGCATTCTCGGGTTCTCGA	0.493000														44			23		0	0	0.002299	0	0
FAT4	79633	broad.mit.edu	37	4	126411760	126411760	+	Missense_Mutation	SNP	G	A	A	rs148534921		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:126411760G>A	uc003ifj.4	+	16	13783	c.13783G>A	c.(13783-13785)Gaa>Aaa	p.E4595K	FAT4_uc011cgp.2_Missense_Mutation_p.E2836K|FAT4_uc003ifi.1_Missense_Mutation_p.E2072K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4595					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I4594V(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATCTATGATGAAACTGATAT	0.483000														42			20		0	0	0.010504	0	0
MICAL1	64780	broad.mit.edu	37	6	109773720	109773720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:109773720G>A	uc011eaq.2	-	4	1018	c.727C>T	c.(727-729)Cct>Tct	p.P243S	MICAL1_uc003ptj.3_Missense_Mutation_p.P224S|MICAL1_uc003ptk.3_Missense_Mutation_p.P224S|MICAL1_uc010kdr.3_Missense_Mutation_p.P224S	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	224					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	p.P224S(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCACCTTCAGGGACGAATTTA	0.552000														31			8		0	0	0.004482	0	0
PRB1	5542	broad.mit.edu	37	12	11506747	11506747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:11506747G>A	uc001qzw.1	-	2	327	c.290C>T	c.(289-291)cCa>cTa	p.P97L	PRB1_uc001qzu.1_Missense_Mutation_p.P97L|PRB1_uc001qzv.1_Missense_Mutation_p.P97L	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	97	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region		p.K96K(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGTCCTTGTGGTTTTCCTGG	0.607000														359			83		0	0	0.003610	0	0
SOGA3	387104	broad.mit.edu	37	6	127796711	127796711	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:127796711C>T	uc003qbd.3	-	5	3325	c.2460G>A	c.(2458-2460)tcG>tcA	p.S820S	KIAA0408_uc003qbc.3_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	820						integral to membrane											GCTCGGCCTCCGAGCGGATGT	0.672000														107			33		0	0	0.003755	0	0
OTX2	5015	broad.mit.edu	37	14	57268930	57268930	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:57268930G>A	uc001xcq.3	-	4	691	c.417C>T	c.(415-417)ttC>ttT	p.F139F	OTX2_uc001xcp.3_Silent_p.F131F|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Silent_p.F131F	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	131					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGGGGGGAGTGAATTGGCCAC	0.527000														23			19		0	0	0.006122	0	0
MECR	51102	broad.mit.edu	37	1	29542634	29542634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:29542634G>A	uc001brq.1	-	2	325	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	MECR_uc001brp.1_Missense_Mutation_p.L21F|MECR_uc001brt.1_Missense_Mutation_p.L21F|MECR_uc010ofz.1_Missense_Mutation_p.L97F	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	97					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		AGTTCAGGAAGGAATCCGTAG	0.552000														47			11		0	0	0.000978	0	0
ACOXL	55289	broad.mit.edu	37	2	111789215	111789215	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:111789215G>A	uc010yxk.1	+	14	1517	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K	ACOXL_uc021vmm.1_Silent_p.K284K|ACOXL_uc021vmn.1_Silent_p.K254K	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	461					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TAAAGACCAAGAAGGAGGATT	0.453000														28			16		0	0	0.006122	0	0
TMEM40	55287	broad.mit.edu	37	3	12790243	12790243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:12790243G>A	uc011auv.1	-	2	337	c.170C>T	c.(169-171)tCc>tTc	p.S57F	TMEM40_uc003bxg.1_Missense_Mutation_p.S41F|TMEM40_uc003bxh.1_Missense_Mutation_p.S41F	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	41	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TTGTTCTTGGGAAAAGAGTCC	0.517000														102			46		0	0	0.003610	0	0
VPS53	55275	broad.mit.edu	37	17	613784	613784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:613784G>A	uc010cjo.2	-	1	304	c.157C>T	c.(157-159)Cca>Tca	p.P53S	VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.P53S|VPS53_uc002frn.2_Missense_Mutation_p.P53S|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.P53S	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	53					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGCTCGGTTGGGAACAGGGTA	0.418000														34			16		0	0	0.008871	0	0
SCN1A	6323	broad.mit.edu	37	2	166929996	166929996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:166929996C>T	uc002udo.4	-	2	363	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SCN1A_uc010fpk.3_Missense_Mutation_p.E46K|SCN1A_uc021vsb.1_Missense_Mutation_p.E46K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	46						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D45D(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGGCCATTTTCGTCGTCATCT	0.448000														93			37		0	0	0.006999	0	0
C6orf58	352999	broad.mit.edu	37	6	127912742	127912742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:127912742C>T	uc003qbh.3	+	5	980	c.968C>T	c.(967-969)tCt>tTt	p.S323F		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	323						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GAATCTAGCTCTAGAAGTTAT	0.269000														21			12		0	0	0.001368	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290723	15290723	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:15290723G>A	uc001iob.3	-	4	676	c.669C>T	c.(667-669)ccC>ccT	p.P223P		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	223						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGACATAGATGGGACCATCCA	0.587000														49			21		0	0	0.010504	0	0
PPP4R4	57718	broad.mit.edu	37	14	94725701	94725701	+	Missense_Mutation	SNP	G	A	A	rs2180398		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:94725701G>A	uc001ycs.1	+	18	2276	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	708						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACTTCTTTTGGAAATGGTATG	0.269000														8			6		0	0	0.001984	0	0
CCDC81	60494	broad.mit.edu	37	11	86126160	86126160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:86126160C>T	uc001pbx.2	+	12	1924	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L	CCDC81_uc001pbw.2_Missense_Mutation_p.P409L|CCDC81_uc010rtq.2_Missense_Mutation_p.P282L|CCDC81_uc001pby.2_Missense_Mutation_p.P234L	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	499								p.R499K(1)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCTCGGCTGCCCCCCTTTGAG	0.438000														41			19		0	0	0.002780	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022436	51022436	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:51022436G>A	uc002pss.3	-	2	671	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	178						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCACGCGGTTGAAGGCGTAGG	0.672000														43			20		0	0	0.010504	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183090	102183090	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:102183090C>T	uc003dvt.1	+	6	904	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ZPLD1_uc003dvs.1_Silent_p.F252F|ZPLD1_uc011bhg.1_Silent_p.F252F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	252	ZP.					integral to membrane		p.F268Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGATCTTTTCCTTAGGTAAG	0.313000														36			14		0	0	0.001855	0	0
FILIP1	27145	broad.mit.edu	37	6	76024867	76024867	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:76024867C>T	uc010kbe.3	-	5	1220	c.690G>A	c.(688-690)aaG>aaA	p.K230K	FILIP1_uc003phy.1_Silent_p.K227K|FILIP1_uc003phz.3_Silent_p.K128K|FILIP1_uc003pia.3_Silent_p.K227K|FILIP1_uc003pib.1_5'UTR	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	227										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGCATTTTCCTTTTCTTTGC	0.343000														52			12		0	0	0.000978	0	0
SLC9A3	6550	broad.mit.edu	37	5	488572	488572	+	Silent	SNP	C	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:488572C>A	uc003jbe.2	-	2	646	c.534G>T	c.(532-534)ctG>ctT	p.L178L	SLC9A3_uc011clx.1_Silent_p.L178L	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	178						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGAAGTCCAGCAGCCCAATCT	0.677000														5			3		0.00909568	0.00921744	0.009096	1	0
PCDH15	65217	broad.mit.edu	37	10	55582031	55582031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:55582031G>A	uc010qhy.1	-	34	5871	c.5476C>T	c.(5476-5478)Cct>Tct	p.P1826S	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1821S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1796S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1816S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1779S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1750S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1821S|PCDH15_uc010qia.1_Missense_Mutation_p.P1799S|PCDH15_uc001jju.1_Missense_Mutation_p.P1819S|PCDH15_uc010qib.1_Missense_Mutation_p.P1796S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1819	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1826L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggtggtggaggaagaggagtt	0.483000										HNSCC(58;0.16)				19			6		0	0	0.001168	0	0
EGFR	1956	broad.mit.edu	37	7	55233114	55233114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:55233114C>T	uc003tqk.3	+	14	2110	c.1864C>T	c.(1864-1866)Cca>Tca	p.P622S	EGFR_uc003tqi.3_Missense_Mutation_p.P622S|EGFR_uc003tqj.3_Missense_Mutation_p.P622S|EGFR_uc022adm.1_Missense_Mutation_p.P622S|EGFR_uc010kzg.2_Missense_Mutation_p.P577S|EGFR_uc022adn.1_Missense_Mutation_p.P577S|EGFR_uc011kco.2_Missense_Mutation_p.P569S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	622					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 MAP kinase activity|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 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 UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			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)	CCTGTGCCATCCAAACTGCAC	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				37			12		0	0	0.001855	0	0
YARS2	51067	broad.mit.edu	37	12	32908665	32908665	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:32908665G>A	uc001rli.3	-	0	223	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	48					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|protein binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AGAAGTCCTTGAACAGACCTC	0.577000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			38		0	0	0.006230	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981769	92981769	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr15:92981769C>T	uc002bra.3	+	3	632	c.477C>T	c.(475-477)atC>atT	p.I159I	ST8SIA2_uc002brb.3_Silent_p.I138I	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	159					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTTGTGCCATCGTGGGCAACT	0.577000														23			19		0	0	0.006122	0	0
KRT76	51350	broad.mit.edu	37	12	53169379	53169379	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:53169379A>T	uc001sax.3	-	1	662	c.608T>A	c.(607-609)tTc>tAc	p.F203Y		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	203	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGTTCCAGGAACCGCACCTG	0.572000														51			26		0	0	0.003954	0	0
KLHL12	59349	broad.mit.edu	37	1	202862461	202862461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:202862461G>A	uc001gyo.1	-	10	1686	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Missense_Mutation_p.R534C|KLHL12_uc009xah.1_Missense_Mutation_p.R395C	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	496	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAATCAGTGCGAATGTTGTAT	0.522000														85			37		0	0	0.004289	0	0
RPH3A	22895	broad.mit.edu	37	12	113327831	113327831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:113327831G>A	uc010syl.2	+	17	1928	c.1566G>A	c.(1564-1566)atG>atA	p.M522I	RPH3A_uc001ttz.3_Missense_Mutation_p.M522I|RPH3A_uc001tty.3_Missense_Mutation_p.M518I|RPH3A_uc009zwe.1_Missense_Mutation_p.M518I|RPH3A_uc010sym.2_Missense_Mutation_p.M473I|RPH3A_uc001tua.3_Missense_Mutation_p.M282I	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	522					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTTTTAAGATGAAACGTGCTG	0.483000														123			49		0	0	0.003610	0	0
CANT1	124583	broad.mit.edu	37	17	76993521	76993521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:76993521G>A	uc002jwj.3	-	1	679	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	CANT1_uc002jwn.3_Missense_Mutation_p.H62Y|CANT1_uc002jwk.3_Missense_Mutation_p.H62Y|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	62					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCCGGGCGGTGGGAGCAGAGC	0.687000			T	ETV4	prostate									21			30		0	0	0.007291	0	0
COL11A2	1302	broad.mit.edu	37	6	33134889	33134889	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:33134889C>T	uc003ocx.1	-	57	4416	c.4188G>A	c.(4186-4188)ggG>ggA	p.G1396G	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.G1310G|COL11A2_uc003ocz.1_Silent_p.G1289G	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1396	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GACCAGGCAGCCCTGGGGGTC	0.607000														39			13		0	0	0.004990	0	0
ZNF451	26036	broad.mit.edu	37	6	57017092	57017092	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:57017092C>T	uc003pdm.1	+	11	3050	c.2826C>T	c.(2824-2826)ttC>ttT	p.F942F	ZNF451_uc003pdl.3_Silent_p.F942F|ZNF451_uc003pdn.1_Silent_p.F894F|BC032020_uc003pdq.1_Intron	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	942					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATGCTTCTTCCTTCATCCTC	0.368000														51			7		0	0	0.003080	0	0
DNMT3B	1789	broad.mit.edu	37	20	31374317	31374317	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:31374317C>T	uc002wyc.3	+	4	637	c.316C>T	c.(316-318)Cga>Tga	p.R106*	DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Nonsense_Mutation_p.R106*|DNMT3B_uc002wye.3_Nonsense_Mutation_p.R106*|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Nonsense_Mutation_p.R118*	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	106	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTCCGAACTCGAAATAACAA	0.627000														46			11		0	0	0.000978	0	0
RFPL3	10738	broad.mit.edu	37	22	32756464	32756464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:32756464C>T	uc003amj.3	+	1	804	c.599C>T	c.(598-600)tCt>tTt	p.S200F	RFPL3_uc010gwn.3_Missense_Mutation_p.S171F|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	200	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCAGAGAATCTGTTCACTGC	0.582000														52			21		0	0	0.008871	0	0
C1orf173	127254	broad.mit.edu	37	1	75065500	75065500	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:75065500T>A	uc001dgg.3	-	10	1824	c.1605A>T	c.(1603-1605)aaA>aaT	p.K535N	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.K329N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	535	Glu-rich.							p.K534T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAAATTATCTTTTTTATCAT	0.403000														69			23		0	0	0.003330	0	0
GLI2	2736	broad.mit.edu	37	2	121746665	121746665	+	Missense_Mutation	SNP	G	A	A	rs150597008		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:121746665G>A	uc010flp.3	+	12	3205	c.3175G>A	c.(3175-3177)Gac>Aac	p.D1059N	GLI2_uc002tmq.1_Missense_Mutation_p.D731N|GLI2_uc002tmr.1_Missense_Mutation_p.D714N|GLI2_uc002tmt.4_Missense_Mutation_p.D731N|GLI2_uc002tmu.4_Missense_Mutation_p.D714N	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1059					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCGGAGGACGACCTGGTGCT	0.706000														48			17		0	0	0.007413	0	0
OR6C75	390323	broad.mit.edu	37	12	55759740	55759740	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:55759740C>T	uc010spk.2	+	0	846	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGGCTCCTCTCTTGAATCCCT	0.393000														34			10		0	0	0.008291	0	0
OR6C3	254786	broad.mit.edu	37	12	55725784	55725784	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:55725784C>T	uc010spj.2	+	0	300	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AACTCTTTTTCTTTATCTTCA	0.413000														43			21		0	0	0.008871	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082095	140082095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:140082095C>T	uc004clr.1	-	1	651	c.578G>A	c.(577-579)gGg>gAg	p.G193E	ANAPC2_uc004clq.1_Missense_Mutation_p.G52E|ANAPC2_uc011mer.1_Missense_Mutation_p.G193E|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	193					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GTCTGTGCCCCCTTCCCCCTT	0.587000														53			18		0	0	0.006122	0	0
MAP3K11	4296	broad.mit.edu	37	11	65367008	65367008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:65367008G>A	uc001oew.3	-	8	2556	c.2063C>T	c.(2062-2064)aCc>aTc	p.T688I	MAP3K11_uc001oev.3_Missense_Mutation_p.T104I|MAP3K11_uc010rol.2_Missense_Mutation_p.T431I|MAP3K11_uc001oex.1_Missense_Mutation_p.T195I	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	688	Pro-rich.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGCGGCTCGGTCGGGCAGGG	0.741000														40			23		0	0	0.004656	0	0
CCBP2	1238	broad.mit.edu	37	3	42906687	42906687	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:42906687C>T	uc003cme.3	+	2	871	c.693C>T	c.(691-693)tcC>tcT	p.S231S	CCBP2_uc003cmf.3_Silent_p.S231S|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.S231S	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	231					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCTTCTACTCCCGTATTGGTT	0.557000														95			34		0	0	0.003755	0	0
VHDJH	0	broad.mit.edu	37	16	32077634	32077634	+	RNA	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:32077634G>A	uc010vfu.2	+	0		c.65G>A								Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26.																		ATCTGCAAATGAACAGCCTGA	0.512000														314			55		0	0	0.003610	0	0
SLC4A1	6521	broad.mit.edu	37	17	42327849	42327849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:42327849C>T	uc002igf.4	-	19	2862	c.2713G>A	c.(2713-2715)Gac>Aac	p.D905N	SLC4A1_uc021tyc.1_Missense_Mutation_p.D539N	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	905	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCACTTCGTCGTATTCATCC	0.597000														35			10		0	0	0.001368	0	0
SCAF8	22828	broad.mit.edu	37	6	155141449	155141449	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:155141449C>T	uc003qqa.3	+	15	2006	c.1774C>T	c.(1774-1776)Cag>Tag	p.Q592*	SCAF8_uc011efj.2_Nonsense_Mutation_p.Q658*|SCAF8_uc011efk.2_Nonsense_Mutation_p.Q637*|SCAF8_uc003qpz.3_Nonsense_Mutation_p.Q592*|SCAF8_uc010kji.3_Nonsense_Mutation_p.Q613*	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	592					RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CATGATTGATCAGGAGACTGT	0.368000														31			12		0	0	0.001368	0	0
EVPL	2125	broad.mit.edu	37	17	74005349	74005349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:74005349C>T	uc010wss.1	-	21	4231	c.4003G>A	c.(4003-4005)Gtg>Atg	p.V1335M	EVPL_uc002jqi.2_Missense_Mutation_p.V1313M|EVPL_uc010wst.1_Missense_Mutation_p.V783M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1313	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCTTGCTCACCGTCTTGGTC	0.697000														117			72		0	0	0.003610	0	0
ADAM11	4185	broad.mit.edu	37	17	42848992	42848992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:42848992G>A	uc002ihh.3	+	4	422	c.422G>A	c.(421-423)gGg>gAg	p.G141E	ADAM11_uc010wjd.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	141					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R140Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AAGCTCCGGGGGAACCCGCAC	0.687000														84			27		0	0	0.002096	0	0
TUSC3	7991	broad.mit.edu	37	8	15480671	15480671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:15480671G>A	uc003wwt.3	+	1	565	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	TUSC3_uc003wwu.3_Missense_Mutation_p.R74Q	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	74					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R74L(3)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATAAATTCCGAAAATTTATA	0.398000														22			6		0	0	0.001168	0	0
ERAP2	64167	broad.mit.edu	37	5	96224936	96224936	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:96224936T>C	uc003kmq.3	+	4	1607	c.897T>C	c.(895-897)gcT>gcC	p.A299A	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.A299A|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.A248A|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	299					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CACATTATGCTTTGCAGGCAT	0.393000														37			13		0	0	0.002450	0	0
SYT16	83851	broad.mit.edu	37	14	62551075	62551075	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:62551075C>T	uc001xfu.1	+	4	1793	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	SYT16_uc010tse.1_Silent_p.F90F	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	532	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GCAGCCATTTCCGAAACCTCG	0.537000														22			16		0	0	0.006122	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527628	65527628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:65527628G>A	uc003xvj.2	-	3	1216	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	338					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGGTGGATGGGAAATCCAGAC	0.443000														21			6		0	0	0.003080	0	0
CDC45	8318	broad.mit.edu	37	22	19495387	19495387	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:19495387G>A	uc011aha.2	+	13	1229	c.1151_splice	c.e13+1	p.G384_splice	CDC45_uc011agz.1_Splice_Site_p.G347_splice|CDC45_uc002zpr.3_Splice_Site_p.G352_splice|CDC45_uc002zpt.3_Splice_Site_p.G306_splice	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	352					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AATAAATTTGGGTAAACACAC	0.388000														39			14		0	0	0.001855	0	0
ASXL2	55252	broad.mit.edu	37	2	25972779	25972779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:25972779G>A	uc002rgs.2	-	10	1867	c.1646C>T	c.(1645-1647)aCt>aTt	p.T549I	ASXL2_uc002rgt.1_Missense_Mutation_p.T289I	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCATATTAGTCTCCTGTGG	0.502000														55			21		0	0	0.010504	0	0
MRPS23	51649	broad.mit.edu	37	17	55917233	55917233	+	Silent	SNP	A	G	G			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:55917233A>G	uc002ivc.3	-	4	546	c.484T>C	c.(484-486)Ttg>Ctg	p.L162L		NM_016070	NP_057154	Q9Y3D9	RT23_HUMAN	Homo sapiens mitochondrial ribosomal protein S23 (MRPS23), nuclear gene encoding mitochondrial protein, mRNA.	162					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					TTTTCTTCCAACGCAGTCTGT	0.478000														41			29		0	0	0.009535	0	0
SHANK3	85358	broad.mit.edu	37	22	51123077	51123077	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:51123077T>C	uc003bne.1	+	8	1028	c.1028T>C	c.(1027-1029)gTt>gCt	p.V343A		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	343										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GACTCGGATGTTGGTGAGTTC	0.567000														41			10		0	0	0.006214	0	0
ZNF319	57567	broad.mit.edu	37	16	58031661	58031661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:58031661G>A	uc002emx.1	-	1	1132	c.509C>T	c.(508-510)gCt>gTt	p.A170V	ZNF319_uc021tjd.1_Missense_Mutation_p.A170V	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGCTGCCTCAGCTGGCTTGTA	0.622000														123			208		0	0	0.003610	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251642	24251642	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:24251642C>T	uc003xdz.2	+	3	565	c.345C>T	c.(343-345)acC>acT	p.T115T	ADAMDEC1_uc010lub.2_Silent_p.T36T|ADAMDEC1_uc011lab.1_Silent_p.T36T	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	115					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGAAATTACCACGAAACCTG	0.458000														14			5		0	0	0.000602	0	0
POLL	27343	broad.mit.edu	37	10	103345144	103345144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:103345144G>A	uc001ktg.1	-	2	1268	c.502C>T	c.(502-504)Cct>Tct	p.P168S	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001ktj.2_Missense_Mutation_p.P168S|POLL_uc010qqb.2_Intron|POLL_uc001ktf.3_Missense_Mutation_p.P168S|POLL_uc001kti.2_Missense_Mutation_p.P168S|POLL_uc001ktl.3_Missense_Mutation_p.P80S|POLL_uc001ktm.3_Missense_Mutation_p.P168S|POLL_uc010qqc.2_Intron|POLL_uc010qqa.2_Intron|POLL_uc010qqd.2_Intron|DPCD_uc001ktn.3_5'Flank	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	168					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAGGAGGAGGAGAAAGGGCT	0.597000								DNA polymerases (catalytic subunits)						17			15		0	0	0.004007	0	0
XKR4	114786	broad.mit.edu	37	8	56435931	56435931	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:56435931C>T	uc003xsf.3	+	2	1130	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	366						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACAAGAAGCCCATCAGCTACA	0.587000														34			12		0	0	0.002450	0	0
PLXDC1	57125	broad.mit.edu	37	17	37243946	37243946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:37243946C>T	uc002hrg.2	-	7	1033	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_5'UTR|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	274					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATGCTCCTTCGCCGAGATTC	0.572000														22			11		0	0	0.000978	0	0
TRERF1	55809	broad.mit.edu	37	6	42196395	42196395	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:42196395C>T	uc003ose.2	-	17	3914	c.3351G>A	c.(3349-3351)aaG>aaA	p.K1117K	TRERF1_uc011duq.1_Silent_p.K1014K|TRERF1_uc003osb.2_Silent_p.K865K|TRERF1_uc003osc.2_Silent_p.K853K|TRERF1_uc003osd.2_Silent_p.K1097K	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1097	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCTTTTGATCTTGAAGAAGA	0.468000														288			80		0	0	0.003610	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51252788	51252788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:51252788G>A	uc001rwx.4	+	2	651	c.604G>A	c.(604-606)Gga>Aga	p.G202R	TMPRSS12_uc001rwy.3_Missense_Mutation_p.G202R	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	Homo sapiens transmembrane (C-terminal) protease, serine 12 (TMPRSS12), mRNA.	202	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AATCCTGGACGGAAACACAAA	0.348000														14			4		0	0	0.000602	0	0
COL5A1	1289	broad.mit.edu	37	9	137687133	137687133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:137687133G>A	uc004cfe.3	+	33	3153	c.2771G>A	c.(2770-2772)cGg>cAg	p.R924Q		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	924	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P923S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGAGGCCCCCGGGGCATCACT	0.632000														54			26		0	0	0.006320	0	0
DSG3	1830	broad.mit.edu	37	18	29036436	29036436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:29036436G>A	uc002kws.3	+	1	191	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	28					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)			ATTGCGAATAGAGGTAAAGTA	0.229000														24			6		0	0	0.001168	0	0
SCN8A	6334	broad.mit.edu	37	12	52056748	52056748	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:52056748G>A	uc001ryw.3	+	1	325	c.147G>A	c.(145-147)gaG>gaA	p.E49E	SCN8A_uc010snl.2_Silent_p.E49E	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	49					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGGACGATGAGGACAGCAAGC	0.567000														38			15		0	0	0.003163	0	0
CLVS2	134829	broad.mit.edu	37	6	123369783	123369783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:123369783G>A	uc003pzi.1	+	3	1450	c.581G>A	c.(580-582)cGa>cAa	p.R194Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	194	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTCCCAGCGCGATTTGGAGGA	0.388000														121			34		0	0	0.006230	0	0
PCLO	27445	broad.mit.edu	37	7	82785521	82785521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:82785521C>T	uc003uhx.2	-	1	725	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	PCLO_uc003uhv.2_Missense_Mutation_p.E146K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	146					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTGCTCTTCCTTTAAATCA	0.403000														33			11		0	0	0.008291	0	0
MAP3K9	4293	broad.mit.edu	37	14	71216739	71216739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:71216739C>T	uc001xmm.3	-	3	1061	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D	MAP3K9_uc010ttk.2_Missense_Mutation_p.G91D|MAP3K9_uc001xmk.3_Missense_Mutation_p.G48D|MAP3K9_uc001xml.3_Missense_Mutation_p.G354D	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	354	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GACTGCTAAGCCATCAATGCC	0.488000														39			9		0	0	0.006214	0	0
SYNE1	23345	broad.mit.edu	37	6	152861132	152861132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:152861132C>T	uc021zhb.1	-	1	315	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	SYNE1_uc003qot.4_Missense_Mutation_p.R31Q|SYNE1_uc003qou.4_Missense_Mutation_p.R31Q|SYNE1_uc010kjb.1_Missense_Mutation_p.R31Q|SYNE1_uc003qpa.1_Missense_Mutation_p.R31Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	31	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTGAAAGTTCGTTTTTGTAC	0.338000										HNSCC(10;0.0054)				74			28		0	0	0.008361	0	0
DIDO1	11083	broad.mit.edu	37	20	61511906	61511906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:61511906C>T	uc002ydr.2	-	15	5714	c.5402G>A	c.(5401-5403)gGa>gAa	p.G1801E	DIDO1_uc002yds.2_Missense_Mutation_p.G1801E	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1801	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTCTGGGCTCCGAATCTGGC	0.622000														92			39		0	0	0.008740	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922422	43922422	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:43922422C>T	uc010wka.2	+	0	167	c.150C>T	c.(148-150)ccC>ccT	p.P50P	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	50						integral to membrane	aspartic-type endopeptidase activity										TCACCCTCCCCCGGGACCTGC	0.662000														36			27		0	0	0.006320	0	0
KIF19	124602	broad.mit.edu	37	17	72338108	72338108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:72338108G>A	uc002jkm.4	+	2	352	c.214G>A	c.(214-216)Gac>Aac	p.D72N	KIF19_uc002jkj.2_Missense_Mutation_p.D72N|KIF19_uc002jkk.2_Missense_Mutation_p.D72N|KIF19_uc002jkl.2_Missense_Mutation_p.D72N	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	72	Kinesin-motor.				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						CGTGGCCTTTGACTTCACCGC	0.662000														134			33		0	0	0.002836	0	0
GPC6	10082	broad.mit.edu	37	13	95034789	95034789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr13:95034789G>A	uc001vlt.3	+	6	1906	c.1274G>A	c.(1273-1275)gGg>gAg	p.G425E		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	425						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.G425R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGCTGGAACGGGCACAGCAAA	0.552000														36			13		0	0	0.002450	0	0
CCDC67	159989	broad.mit.edu	37	11	93148173	93148173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:93148173C>T	uc001pdq.3	+	12	1631	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y	CCDC67_uc001pdo.1_Missense_Mutation_p.H511Y	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	511										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TAGACTTAGTCATGACTGTGA	0.383000														46			21		0	0	0.008871	0	0
KCNH5	27133	broad.mit.edu	37	14	63316401	63316401	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:63316401C>T	uc001xfx.3	-	7	1590	c.1539G>A	c.(1537-1539)tgG>tgA	p.W513*	KCNH5_uc001xfy.3_Nonsense_Mutation_p.W513*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.W455*	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	513					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGACATGGACCATGTTGAGA	0.368000														37			10		0	0	0.000978	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997681	72997681	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:72997681T>A	uc002lly.3	+	1	747	c.184T>A	c.(184-186)Tcg>Acg	p.S62T	TSHZ1_uc021uln.1_Missense_Mutation_p.S62T	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	107	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGACAGCGTCTCGTACCCCCA	0.557000														19			12		0	0	0.000978	0	0
RIMS1	22999	broad.mit.edu	37	6	72967938	72967938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:72967938G>A	uc003pga.3	+	16	2958	c.2881G>A	c.(2881-2883)Gat>Aat	p.D961N	RIMS1_uc011dyb.2_Missense_Mutation_p.D586N|RIMS1_uc003pgc.3_Missense_Mutation_p.D587N|RIMS1_uc010kaq.3_Missense_Mutation_p.D434N|RIMS1_uc011dyc.2_Missense_Mutation_p.D435N|RIMS1_uc010kar.3_Missense_Mutation_p.D354N|RIMS1_uc011dyd.2_Missense_Mutation_p.D420N|RIMS1_uc003pge.3_Missense_Mutation_p.D178N|RIMS1_uc003pgf.3_Missense_Mutation_p.D177N|RIMS1_uc003pgi.3_Missense_Mutation_p.D177N|RIMS1_uc003pgg.3_Missense_Mutation_p.D178N|RIMS1_uc003pgh.3_Missense_Mutation_p.D177N|RIMS1_uc003pgd.3_Missense_Mutation_p.D178N|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.D587N|RIMS1_uc010kas.1_Missense_Mutation_p.D420N	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	961					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCGCGGCAATGATCAGGGAAA	0.438000														18			7		0	0	0.003080	0	0
MYOM2	9172	broad.mit.edu	37	8	2063855	2063855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:2063855G>A	uc003wpx.4	+	25	3422	c.3284G>A	c.(3283-3285)gGg>gAg	p.G1095E	MYOM2_uc011kwi.2_Missense_Mutation_p.G520E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1095					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATTCATGATGGGAAAGCCAAA	0.358000														26			10		0	0	0.006214	0	0
TRUB2	26995	broad.mit.edu	37	9	131073167	131073167	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:131073167T>A	uc004buq.1	-	7	680	c.670_splice	c.e7+1	p.E224_splice		NM_015679	NP_056494	O95900	TRUB2_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 2 (E. coli) (TRUB2), mRNA.	224					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCAACCTACCTAAGAGGAATT	0.552000														52			26		0	0	0.005443	0	0
DPH3P1	100132911	broad.mit.edu	37	20	61477138	61477138	+	Silent	SNP	T	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:61477138T>C	uc011aan.1	+	0	663	c.123T>C	c.(121-123)aaT>aaC	p.N41N	TCFL5_uc002ydo.3_Intron|TCFL5_uc002ydp.3_Intron	NM_080750	NP_542788	Q9H4G8	DPH3B_HUMAN	Homo sapiens DPH3, KTI11 homolog (S. cerevisiae) pseudogene 1 (DPH3P1), mRNA.	41							metal ion binding										AGCTGGAGAATGGGGAAGGTG	0.478000														6			4		0	0	0.009096	0	0
OR4D2	124538	broad.mit.edu	37	17	56247560	56247560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:56247560C>T	uc010wnp.2	+	0	544	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTGTGATGTTCCCCAAGTACT	0.537000														108			33		0	0	0.003271	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107822	26107822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:26107822C>T	uc003ngj.3	-	0	543	c.500G>A	c.(499-501)gGg>gAg	p.G167E		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	167					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						AGCCTTTCTCCCGCTCCTAAC	0.468000														91			21		0	0	0.001882	0	0
ZFAT	57623	broad.mit.edu	37	8	135649738	135649738	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:135649738G>A	uc003yup.3	-	2	600	c.414C>T	c.(412-414)atC>atT	p.I138I	ZFAT_uc003yun.3_Silent_p.I126I|ZFAT_uc003yuo.3_Silent_p.I126I|ZFAT_uc010meh.3_Silent_p.I126I|ZFAT_uc010mej.3_Silent_p.I138I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.I126I|ZFAT_uc003yur.3_Silent_p.I126I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AATTCAGCACGATAATGCAGA	0.507000														61			23		0	0	0.003954	0	0
CLCN4	1183	broad.mit.edu	37	X	10176399	10176399	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrX:10176399C>T	uc004csy.4	+	8	1588	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	CLCN4_uc011mid.2_Silent_p.P292P	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	386						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGCCTACCCCAATCCCTACA	0.567000														20			50		0	0	0.003610	0	0
FREM1	158326	broad.mit.edu	37	9	14792826	14792826	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:14792826A>C	uc003zlm.3	-	22	4712	c.3896T>G	c.(3895-3897)cTt>cGt	p.L1299R	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1299					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TATGGCTGAAAGAATAGCACT	0.363000														3			4		0	0	0.009096	0	0
C3P1	388503	broad.mit.edu	37	19	10158089	10158089	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:10158089C>T	uc010dwx.2	+	10		c.1532C>T								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						ATGAGCAGGTCCAGATCCAAG	0.502000														48			27		0	0	0.006320	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791256	50791256	+	Missense_Mutation	SNP	C	T	T	rs80338910		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:50791256C>T	uc003pag.3	+	1	384	c.218C>T	c.(217-219)cCc>cTc	p.P73L		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	73	Gln/Pro-rich (transactivation domain).		P -> R (in CHAR).		nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TTCCCACCCCCCTACCAGCCG	0.682000														28			8		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9086150	9086150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9086150C>T	uc002mkp.3	-	0	5869	c.5665G>A	c.(5665-5667)Gga>Aga	p.G1889R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1889	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M1888I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCTGTTTCCCATAGACAGG	0.502000														31			11		0	0	0.000978	0	0
NPSR1	387129	broad.mit.edu	37	7	34889193	34889193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:34889193G>A	uc003teh.1	+	9	1270	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.D348N|NPSR1_uc010kwt.1_Missense_Mutation_p.D195N|NPSR1_uc010kwu.1_Missense_Mutation_p.D138N|NPSR1_uc010kwv.1_Missense_Mutation_p.D282N|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AAGATCACAGGATTCCAGAAT	0.448000														55			15		0	0	0.004990	0	0
SOGA3	387104	broad.mit.edu	37	6	127796945	127796945	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:127796945C>T	uc003qbd.3	-	5	3091	c.2226G>A	c.(2224-2226)ctG>ctA	p.L742L	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	742						integral to membrane											CGCGGATGCCCAGGTGCGAGG	0.677000														108			36		0	0	0.009718	0	0
CDH7	1005	broad.mit.edu	37	18	63477090	63477090	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr18:63477090C>T	uc002lkb.3	+	2	787	c.361C>T	c.(361-363)Cga>Tga	p.R121*	CDH7_uc002ljz.3_Nonsense_Mutation_p.R121*|CDH7_uc002lka.3_Nonsense_Mutation_p.R121*	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	121	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R121*(3)|p.R121L(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTACACGCTCCGAGCTCAAGC	0.488000														38			12		0	0	0.001368	0	0
FAM5C	339479	broad.mit.edu	37	1	190250829	190250829	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:190250829G>A	uc001gse.1	-	2	520	c.288C>T	c.(286-288)ttC>ttT	p.F96F	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	96						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGAGCCAAGGAAATTTCTTC	0.403000														24			8		0	0	0.006214	0	0
IL2RB	3560	broad.mit.edu	37	22	37524807	37524807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:37524807C>T	uc003aqv.1	-	9	1116	c.985G>A	c.(985-987)Gag>Aag	p.E329K		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	329					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TTGTCCCTCTCCAGCACTTCT	0.612000														31			21		0	0	0.002299	0	0
INPPL1	3636	broad.mit.edu	37	11	71942105	71942105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:71942105G>A	uc001osf.3	+	11	1516	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	INPPL1_uc001osg.3_Missense_Mutation_p.E215K	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	457					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GACCCTGGACGAGGTCACAGT	0.587000														113			42		0	0	0.007835	0	0
BMPR1B	658	broad.mit.edu	37	4	96036848	96036848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:96036848C>T	uc003htm.4	+	5	533	c.259C>T	c.(259-261)Cct>Tct	p.P87S	BMPR1B_uc010ilb.3_Missense_Mutation_p.P87S|BMPR1B_uc003htn.4_Missense_Mutation_p.P87S	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	87					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CACTCCCATTCCTCATCAAAG	0.363000														59			14		0	0	0.004007	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419601	105419601	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:105419601G>A	uc010axc.1	-	6	2307	c.2187C>T	c.(2185-2187)tcC>tcT	p.S729S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S629S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	729						nucleus		p.S729S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGGTCAGCGGAAGGGGTCT	0.652000														75			37		0	0	0.004878	0	0
TBX15	6913	broad.mit.edu	37	1	119427590	119427590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:119427590G>A	uc001ehl.1	-	7	1571	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	TBX15_uc009whj.1_Missense_Mutation_p.S243F	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	525						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TAGCCTAGGGGAAGTGGGGAA	0.532000														15			8		0	0	0.003080	0	0
PRIMA1	145270	broad.mit.edu	37	14	94203587	94203587	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:94203587C>T	uc001ybw.1	-	4	401	c.359_splice	c.e4+1	p.R120_splice	PRIMA1_uc001ybx.1_Splice_Site	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	120					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GAGCACTCACCTTTTTATGGC	0.493000														19			4		0	0	0.009096	0	0
LOC440041	440041	broad.mit.edu	37	11	55065005	55065005	+	RNA	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:55065005C>T	uc021qjb.1	-	1		c.421G>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CTGAGATTTTCACAAGCTTTT	0.398000														19			5		0	0	0.001984	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428863	142428863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:142428863G>A	uc011ksk.1	+	1	240	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Missense_Mutation_p.E30K					SubName: Full=V_segment translation product; Flags: Fragment;																		TAAAATGAAAGAAAAAGGAGA	0.453000														18			6		0	0	0.001984	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605943	5605943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chrY:5605943C>T	uc004fqo.3	+	4	4717	c.3983C>T	c.(3982-3984)tCc>tTc	p.S1328F	PCDH11Y_uc022ciy.1_Non-coding_Transcript	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1328					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCAGACCGTCCAGAGGTGAT	0.383000														11			25		0	0	0.003330	0	0
ADCY8	114	broad.mit.edu	37	8	131896923	131896923	+	Missense_Mutation	SNP	C	T	T	rs147685814		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr8:131896923C>T	uc003ytd.4	-	7	2252	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	ADCY8_uc010mds.3_Missense_Mutation_p.E666K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	666					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.E666K(2)|p.E665G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGTTAATTTCCTCAGGCCCA	0.438000										HNSCC(32;0.087)				63			27		0	0	0.004656	0	0
P4HA3	283208	broad.mit.edu	37	11	74015355	74015355	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:74015355C>T	uc010rrj.2	-	1	346	c.303G>A	c.(301-303)agG>agA	p.R101R	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.R101R			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	101						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTACCACATTCCTCCAGTCAG	0.493000														92			61		0	0	0.003610	0	0
INTS2	57508	broad.mit.edu	37	17	59945003	59945003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:59945003C>T	uc002izn.3	-	24	3606	c.3530G>A	c.(3529-3531)gGa>gAa	p.G1177E	INTS2_uc002izm.3_Missense_Mutation_p.G1169E	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	1177					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATCCATGCTTCCAGTGTCCCT	0.333000														46			15		0	0	0.003163	0	0
CLGN	1047	broad.mit.edu	37	4	141317007	141317007	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:141317007C>T	uc011chi.2	-	10	1333	c.1115G>A	c.(1114-1116)tGg>tAg	p.W372*	CLGN_uc003iii.3_Nonsense_Mutation_p.W372*	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	372					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TGGAGGTCTCCATACTCCTTT	0.398000														36			9		0	0	0.004482	0	0
CYP21A2	1589	broad.mit.edu	37	6	32006290	32006290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:32006290C>T	uc003nze.2	+	0	198	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S	CYP21A2_uc003nzf.2_Missense_Mutation_p.P31S	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	30					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CCTCCACCTCCCGCCTCTTGC	0.667000														73			13		0	0	0.003163	0	0
TNIP2	79155	broad.mit.edu	37	4	2746568	2746569	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:2746568_2746569GG>AA	uc003gfg.2	-	3	848_849	c.761_762CC>TT	c.(760-762)ccc>cTT	p.P254L	TNIP2_uc003gff.2_Missense_Mutation_p.P147L	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	254						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCATCAGCTCGGGCTCGTGGGG	0.599000														39			12		0	0	0.004672	0	0
ZNF812	729648	broad.mit.edu	37	19	9801757	9801757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:9801757G>A	uc021uop.1	-	5	1068	c.422C>T	c.(421-423)cCa>cTa	p.P141L	ZNF812_uc010xkx.2_Missense_Mutation_p.P37L	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTTCCACATGGATTAAATTT	0.398000														19			6		0	0	0.004482	0	0
HORMAD2	150280	broad.mit.edu	37	22	30518024	30518024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr22:30518024G>A	uc003agy.3	+	9	705	c.640G>A	c.(640-642)Gag>Aag	p.E214K		NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA.	214	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GTTTGACAAGGAGCCTATCAA	0.433000														16			4		0	0	0.009096	0	0
POTEG	404785	broad.mit.edu	37	14	19573112	19573112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr14:19573112G>A	uc001vuz.1	+	7	1262	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	404										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGTCTCAAGAACCAGAAAT	0.294000														35			3		0	0	0.001984	0	0
TBP	6908	broad.mit.edu	37	6	170873644	170873644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:170873644C>T	uc003qxu.3	+	3	788	c.509C>T	c.(508-510)tCc>tTc	p.S170F	TBP_uc011ehf.2_Missense_Mutation_p.S150F|TBP_uc003qxt.3_Missense_Mutation_p.S170F	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	170					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		AATATTGTATCCACAGTGAAT	0.333000														24			4		0	0	0.009096	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270446	153270446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:153270446G>A	uc001fbn.1	-	6	1065	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	338					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTTGAAATGAGGCCAGGTG	0.582000														77			31		0	0	0.008361	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381969	41381969	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:41381969G>A	uc003jmm.1	-	1	873	c.771C>T	c.(769-771)gtC>gtT	p.V257V		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	257					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCACCCCTTTGACCACAGTGC	0.418000														57			20		0	0	0.003330	0	0
PSG3	5671	broad.mit.edu	37	19	43372272	43372272	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr19:43372272G>A	uc002ovd.1	-	4	1362	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Silent_p.S315S|PSG3_uc002ova.2_Silent_p.S315S|PSG3_uc002ouz.2_Silent_p.S408S|PSG3_uc002ovb.3_Silent_p.S408S	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	408	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.S408S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CGACTGTCATGGATTTGGAGC	0.458000														149			57		0	0	0.003610	0	0
DLG4	1742	broad.mit.edu	37	17	7106568	7106568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:7106568C>T	uc010vtn.2	-	5	666	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.E193K|DLG4_uc002get.4_Missense_Mutation_p.E239K|DLG4_uc010vto.2_Missense_Mutation_p.E236K|DLG4_uc002geu.3_Missense_Mutation_p.E193K	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	196	PDZ 1.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GCACCCCCTTCGATGATCTTT	0.547000														17			4		0	0	0.001168	0	0
SWT1	54823	broad.mit.edu	37	1	185153928	185153928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:185153928C>T	uc001grg.4	+	8	1408	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	SWT1_uc001grh.4_Missense_Mutation_p.R432C	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	432	PINc.							p.R432H(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAGCTAGATCGTATGAAGGA	0.343000														33			16		0	0	0.006122	0	0
IL1RL2	8808	broad.mit.edu	37	2	102818036	102818036	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr2:102818036G>A	uc002tbs.3	+	4	636	c.510G>A	c.(508-510)ggG>ggA	p.G170G	IL1RL2_uc002tbt.3_Silent_p.G53G	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	170	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGATTAAAGGGGAGCGGTTCA	0.413000														35			10		0	0	0.008291	0	0
COL6A6	131873	broad.mit.edu	37	3	130311941	130311941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:130311941G>A	uc010htl.3	+	14	4439	c.4408G>A	c.(4408-4410)Gga>Aga	p.G1470R	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1470	Triple-helical region.				axon guidance|cell adhesion	collagen		p.N1469N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGATTAAACGGAGAACAGGT	0.378000														128			48		0	0	0.003610	0	0
AURKA	6790	broad.mit.edu	37	20	54961538	54961538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:54961538G>A	uc002xxe.1	-	3	351	c.94C>T	c.(94-96)Cct>Tct	p.P32S	AURKA_uc002xxf.1_Missense_Mutation_p.P32S|AURKA_uc002xxg.1_Missense_Mutation_p.P32S|AURKA_uc002xxh.1_Missense_Mutation_p.P32S|AURKA_uc002xxi.1_Missense_Mutation_p.P32S|AURKA_uc002xxj.1_Missense_Mutation_p.P32S|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.P32S	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TTCTGACAAGGAAATTGCTGA	0.443000														39			15		0	0	0.002450	0	0
PROKR2	128674	broad.mit.edu	37	20	5294809	5294809	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr20:5294809G>A	uc010zqw.2	-	0	215	c.207C>T	c.(205-207)atC>atT	p.I69I	PROKR2_uc010zqx.2_Silent_p.I69I|PROKR2_uc010zqy.2_Silent_p.I69I|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	69						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAAAGTTACCGATGCCGCAGA	0.542000										HNSCC(71;0.22)				47			32		0	0	0.002096	0	0
TMIGD1	388364	broad.mit.edu	37	17	28656313	28656313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr17:28656313C>T	uc002hfa.1	-	2	390	c.317G>A	c.(316-318)gGg>gAg	p.G106E	TMIGD1_uc010csh.1_Missense_Mutation_p.G106E	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 1 (TMIGD1), mRNA.	106	Ig-like C2-type 1.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CTGATCCCTCCCCAGCCTGCA	0.458000														37			13		0	0	0.002450	0	0
OR2G3	81469	broad.mit.edu	37	1	247768910	247768910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:247768910C>T	uc010pyz.2	+	0	23	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8F(2)|p.S7I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AATGAGAGTTCCCTAATGGAT	0.468000														41			13		0	0	0.001368	0	0
ATP2C2	9914	broad.mit.edu	37	16	84482186	84482186	+	Silent	SNP	C	T	T			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr16:84482186C>T	uc010chj.3	+	16	1640	c.1551C>T	c.(1549-1551)atC>atT	p.I517I	ATP2C2_uc002fhx.3_Silent_p.I517I|ATP2C2_uc002fhy.3_Silent_p.I534I|ATP2C2_uc002fhz.3_Silent_p.I366I	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	517					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AAGAGGTGATCCGCTACTGCA	0.527000														25			25		0	0	0.003954	0	0
TRPV4	59341	broad.mit.edu	37	12	110246249	110246249	+	Silent	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr12:110246249G>A	uc001tpj.2	-	1	506	c.411C>T	c.(409-411)gcC>gcT	p.A137A	TRPV4_uc001tpg.2_Silent_p.A103A|TRPV4_uc021rdp.1_Silent_p.A137A|TRPV4_uc001tph.2_Silent_p.A137A|TRPV4_uc001tpi.2_Silent_p.A137A|TRPV4_uc001tpk.2_Silent_p.A137A	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	137					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAGGGGCAGGGGCTTTGGGGC	0.657000														23			6		0	0	0.001168	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100148	121100148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:121100148G>A	uc003eec.4	+	22	2568	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	STXBP5L_uc011bji.2_Missense_Mutation_p.E786K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	810					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAAAACCGAGAAAATTCCTA	0.294000														35			14		0	0	0.002450	0	0
PTH	5741	broad.mit.edu	37	11	13514157	13514157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr11:13514157G>A	uc001mlb.3	-	2	258	c.143C>T	c.(142-144)tCg>tTg	p.S48L		NM_000315	NP_000306	P01270	PTHY_HUMAN	Homo sapiens parathyroid hormone (PTH), mRNA.	48					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	p.S48L(2)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		TCTCTCCATCGAGTTCAGATG	0.498000														39			24		0	0	0.006320	0	0
LCE1B	353132	broad.mit.edu	37	1	152785074	152785097	+	In_Frame_Del	DEL	GCTGTGGCTCCAGCTCTGGGGGAA	-	-	rs79241619	byFrequency	TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr1:152785074_152785097delGCTGTGGCTCCAGCTCTGGGGGAA	uc001faq.3	+	0	628_651	c.152_175delGCTGTGGCTCCAGCTCTGGGGGAA	c.(151-177)tgctgtggctccagctctgggggaagc>tgc	p.CGSSSGGS52del		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	52	Gly-rich.				keratinization			p.C51F(2)|p.S56C(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCGGAGGCTGCTGTGGCTCCAGCTCTGGGGGAAGCTGTGGCTC	0.652													---	82	---	---	12	---					
ARIH2	10425	broad.mit.edu	37	3	49008031	49008031	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr3:49008031delC	uc003cvb.3	+	7	976	c.664delC	c.(664-666)catfs	p.H222fs	ARIH2_uc003cvc.3_Frame_Shift_Del_p.H222fs|ARIH2_uc003cvf.3_Frame_Shift_Del_p.H140fs|ARIH2_uc010hkl.3_Frame_Shift_Del_p.H222fs	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	222					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TTCACAGAGTCATTACCAGCT	0.502													---	76	---	---	14	---					
SRP72	6731	broad.mit.edu	37	4	57350909	57350909	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr4:57350909delA	uc003hbv.3	+	9	1005	c.965delA	c.(964-966)caafs	p.Q322fs	SRP72_uc010ihe.3_Frame_Shift_Del_p.Q261fs	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	322					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TAGGCTGAACAATGCCGCAAA	0.418													---	40	---	---	20	---					
RAD17	5884	broad.mit.edu	37	5	68709960	68709960	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:68709960delG	uc003jwo.3	+	15	1949	c.1887delG	c.(1885-1887)ctgfs	p.L629fs	RAD17_uc003jwg.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwi.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwh.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwj.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwk.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwl.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwm.3_Frame_Shift_Del_p.L453fs|RAD17_uc003jwn.3_Frame_Shift_Del_p.L532fs|MARVELD2_uc003jwq.3_5'Flank|MARVELD2_uc010ixf.3_5'Flank	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	629	Interaction with MCM7.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGGAATCTCTGGGTGAACCCA	0.527								Other conserved DNA damage response genes					---	66	---	---	28	---					
GEMIN5	25929	broad.mit.edu	37	5	154271035	154271036	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr5:154271035_154271036delAA	uc003lvx.3	-	25	4110_4111	c.4027_4028delTT	c.(4027-4029)ttgfs	p.L1343fs	GEMIN5_uc011ddk.1_Frame_Shift_Del_p.L1342fs	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1343					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.D1342H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTGAGTCTCAAGTCTAGTTCT	0.475													---	111	---	---	28	---					
KLHL32	114792	broad.mit.edu	37	6	97587157	97587158	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr6:97587157_97587158insA	uc010kcm.1	+	10	2334_2335	c.1862_1863insA	c.(1861-1863)tgafs	p.*621fs	KLHL32_uc003poz.2_Frame_Shift_Ins_p.*177fs|KLHL32_uc011ead.1_Frame_Shift_Ins_p.*585fs|KLHL32_uc011eae.1_Frame_Shift_Ins_p.*552fs|KLHL32_uc003ppa.2_Non-coding_Transcript|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	0										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GGCACCATCTGAAAAGCCAAGC	0.450													---	52	---	---	19	---					
ZKSCAN5	23660	broad.mit.edu	37	7	99128970	99128970	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:99128970delA	uc003uqv.3	+	6	1742	c.1618delA	c.(1618-1620)aaafs	p.K540fs	ZKSCAN5_uc010lfx.3_Frame_Shift_Del_p.K540fs|ZKSCAN5_uc003uqw.3_Frame_Shift_Del_p.K540fs|ZKSCAN5_uc003uqx.3_Frame_Shift_Del_p.K467fs|ZKSCAN5_uc003uqy.3_Frame_Shift_Del_p.K276fs	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	540					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATATGTCCACAAAAAATCCTC	0.418													---	23	---	---	13	---					
LMBR1	64327	broad.mit.edu	37	7	156589158	156589158	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr7:156589158delG	uc010lqn.3	-	4	563	c.348delC	c.(346-348)tccfs	p.S116fs	LMBR1_uc003wmv.4_5'UTR|LMBR1_uc003wmw.4_Frame_Shift_Del_p.S116fs|LMBR1_uc003wmx.4_5'UTR|LMBR1_uc011kvx.2_Frame_Shift_Del_p.S95fs	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	116						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AACAAAGGTTGGAAAAAAGGG	0.333													---	16	---	---	9	---					
ABO	28	broad.mit.edu	37	9	136131057	136131057	+	Frame_Shift_Del	DEL	G	-	-	rs8176750		TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr9:136131057delG	uc004cda.1	-	7	1083	c.1058delC	c.(1057-1059)ccgfs	p.P353fs	ABO_uc010naf.1_Frame_Shift_Del_p.P213fs|ABO_uc011mcz.1_Frame_Shift_Del_p.P213fs|ABO_uc010nag.1_Frame_Shift_Del_p.P213fs	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	354					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	p.P353fs?(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGCCGCTCACGGGTTCCGGAC	0.662													---	3	---	---	5	---					
ABLIM1	3983	broad.mit.edu	37	10	116361718	116361718	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MI-06A-11D-A197-08	TCGA-EE-A2MI-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6507e084-c038-4ba6-a431-fb9a53190d5f	231598d2-a4cd-4a61-b98a-3f41220659cd	g.chr10:116361718delC	uc021pyx.1	-	1	346	c.247delG	c.(247-249)gccfs	p.A83fs	ABLIM1_uc021pyw.1_Frame_Shift_Del_p.A83fs|ABLIM1_uc021pyy.1_Frame_Shift_Del_p.A23fs|ABLIM1_uc021pyz.1_Frame_Shift_Del_p.A17fs|ABLIM1_uc021pza.1_Frame_Shift_Del_p.A23fs|ABLIM1_uc021pze.1_Frame_Shift_Del_p.A7fs|ABLIM1_uc021pzf.1_Frame_Shift_Del_p.A17fs|ABLIM1_uc001lbz.1_Frame_Shift_Del_p.A6fs	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	83					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	p.A23S(1)|p.A83S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGAGGGTGGGCCACTGAAAGA	0.493													---	27	---	---	23	---					
