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
CRHR1	1394	broad.mit.edu	37	17	43908262	43908262	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:43908262C>T	uc010dap.3	+	8	1078	c.813C>T	c.(811-813)atC>atT	p.I271I	CRHR1_uc010wjx.2_Silent_p.I67I|CRHR1_uc002ijp.3_Silent_p.I141I|CRHR1_uc002ijm.3_Silent_p.I242I|CRHR1_uc002ijn.3_Silent_p.I202I|CRHR1_uc010dar.3_Silent_p.I242I|CRHR1_uc010dao.3_Silent_p.I141I|CRHR1_uc010daq.3_Silent_p.I67I|CRHR1_uc021tyu.1_Silent_p.I67I	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	271					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCTTCCCCATCATTGTGGCCT	0.607000														49			13		0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31805443	31805443	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:31805443G>A	uc002wyr.3	+	0	309	c.101G>A	c.(100-102)aGa>aAa	p.R34K	BPIFA3_uc002wys.3_Missense_Mutation_p.R34K	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	34						extracellular region	lipid binding										CAAGCCCACAGAGACAACAAA	0.622000														77			25		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713508	23713508	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:23713508G>A	uc002dma.4	-	10	1481	c.1312C>T	c.(1312-1314)Cca>Tca	p.P438S	ERN2_uc010bxp.3_Missense_Mutation_p.P438S|ERN2_uc010bxq.1_Missense_Mutation_p.P246S	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	390					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTATTCTCTGGAGGTCTTGTC	0.632000														77			49		0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21265292	21265292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr13:21265292G>A	uc001unh.3	+	27	2876	c.2480G>A	c.(2479-2481)gGa>gAa	p.G827E	IFT88_uc001uni.3_Missense_Mutation_p.G818E|IFT88_uc001unj.3_Missense_Mutation_p.G817E|IFT88_uc010tcq.2_Missense_Mutation_p.G798E	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	827					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GAAGAATTAGGAGATGATTTG	0.363000														13			21		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648726	20648726	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:20648726G>A	uc002dhm.1	-	7	1232	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.F388F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	388					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						CCTTCCCCATGAAACCCGGCT	0.537000														79			35		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66070837	66070837	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:66070837C>T	uc001dci.3	+	10	1909	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	LEPR_uc001dcg.3_Missense_Mutation_p.S507F|LEPR_uc001dch.3_Missense_Mutation_p.S507F|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.S507F|LEPR_uc001dcj.3_Missense_Mutation_p.S507F|LEPR_uc001dck.3_Missense_Mutation_p.S507F	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	507					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)		TTCCTATTATCTGGCTACACA	0.413000														77			25		0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12923645	12923645	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:12923645C>T	uc021qdx.1	+	9	1478	c.858C>T	c.(856-858)ttC>ttT	p.F286F	TEAD1_uc001mkk.4_Silent_p.F190F|TEAD1_uc009ygl.3_Intron	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	286	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ATGCCTTCTTCCTCGTAAAAT	0.428000														66			68		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109610100	109610100	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:109610100C>T	uc001tob.3	+	5	1175	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	ACACB_uc001toc.3_Silent_p.G352G	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	352	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.W351*(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTGGCTGGGGCCATGCTTCAG	0.512000														211			77		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411146	43411146	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:43411146G>A	uc002ovj.1	-	4	1267	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.L230F|PSG4_uc002ovg.1_Missense_Mutation_p.L390F	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	391	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CAAGCATAGAGCCCGCTATGA	0.448000														165			124		0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103988684	103988684	+	Silent	SNP	A	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:103988684A>T	uc003hwx.4	-	1	896	c.24T>A	c.(22-24)atT>atA	p.I8I	SLC9B2_uc003hwy.3_Silent_p.I8I|SLC9B2_uc011cew.2_Silent_p.I8I|SLC9B2_uc011cex.1_Silent_p.I8I|SLC9B2_uc011cey.2_Silent_p.I8I	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.	8					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										CTTCATATGTAATTCTTTTAT	0.353000														23			21		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31273112	31273112	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:31273112G>A	uc002ebr.3	+	1	226	c.128G>A	c.(127-129)gGa>gAa	p.G43E	ITGAM_uc002ebq.3_Missense_Mutation_p.G43E	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	43					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGCTTCAGGGATCCAGGTGA	0.488000														16			4		0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33372865	33372865	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:33372865C>A	uc002nty.3	-	17	2109	c.2020G>T	c.(2020-2022)Gag>Tag	p.E674*	CEP89_uc002ntx.3_Nonsense_Mutation_p.E427*|CEP89_uc010edg.3_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	674						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TCCTGCTGCTCCAGCAGACGG	0.637000														8			5		0.000602214	0.000604748	1	1	0
CALD1	800	broad.mit.edu	37	7	134618203	134618203	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:134618203T>C	uc003vrz.3	+	4	1149	c.683T>C	c.(682-684)tTa>tCa	p.L228S	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Missense_Mutation_p.L92S	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	228					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GTAATGTCATTAAAAAATGGG	0.448000														37			22		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35800230	35800230	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:35800230C>T	uc003jjo.3	+	33	5102	c.4991C>T	c.(4990-4992)tCc>tTc	p.S1664F	SPEF2_uc003jjp.1_Missense_Mutation_p.S1150F|SPEF2_uc003jjr.3_Missense_Mutation_p.S719F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1664					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCAAAGCTTCCATTCCAAGT	0.458000														48			53		0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:150156360G>A	uc004fep.3	+	4	668	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.E192E	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(2)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000														41			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735748	140735748	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:140735748C>T	uc003ljq.2	+	0	981	c.981C>T	c.(979-981)ctC>ctT	p.L327L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.L327L	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	330	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)			GGCCTGGTCTCCGAGCTAGAA	0.458000														5			3		0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490895	48490895	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:48490895C>T	uc003gyc.2	+	2	1472	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	ZAR1_uc003gyd.3_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	418						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCAGACACTTCCTATGGCACA	0.363000														31			27		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680609	114680609	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:114680609C>T	uc021osa.1	-	2	657	c.579G>A	c.(577-579)gaG>gaA	p.E193E	SYT6_uc021orz.1_Silent_p.E108E|SYT6_uc001eev.3_Silent_p.E108E	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	193					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGTGGAAGCTCATTGCCAT	0.597000														51			12		0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860896	67860896	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:67860896G>A	uc010vka.2	+	12	1661	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K	TSNAXIP1_uc010vjz.1_Missense_Mutation_p.E352K|TSNAXIP1_uc002euf.4_Missense_Mutation_p.E208K|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.E460K|TSNAXIP1_uc002eug.4_Missense_Mutation_p.E183K|TSNAXIP1_uc002euh.4_Missense_Mutation_p.E183K|TSNAXIP1_uc002eui.4_Missense_Mutation_p.E183K|TSNAXIP1_uc002euj.3_Missense_Mutation_p.E475K|TSNAXIP1_uc002euk.3_Missense_Mutation_p.E208K	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	475					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CACCCAGAAGGAGACAGTAGC	0.522000														80			38		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123260486	123260486	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:123260486C>T	uc003ieh.3	+	69	12320	c.12275C>T	c.(12274-12276)cCt>cTt	p.P4092L	KIAA1109_uc003iem.3_Missense_Mutation_p.P448L|KIAA1109_uc003ien.3_Missense_Mutation_p.P26L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4092					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTACATATCCTGCAGAGACT	0.413000														68			11		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157865	59157865	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr18:59157865G>A	uc010dps.1	+	0	231	c.79G>A	c.(79-81)Gac>Aac	p.D27N	CDH20_uc002lif.2_Missense_Mutation_p.D21N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	27					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)				GGGGCTGATGGACCTTACGAC	0.512000														38			51		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18747456	18747456	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:18747456C>T	uc001rdt.3	+	28	4033	c.3917C>T	c.(3916-3918)tCt>tTt	p.S1306F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S1347F|PIK3C2G_uc010sic.2_Missense_Mutation_p.S1125F	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1306	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.S1306Y(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTTTCCTCTCTGAGGCTGTG	0.289000														27			11		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081172	95081172	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:95081172G>A	uc001ydp.3	+	1	553	c.394G>A	c.(394-396)Gag>Aag	p.E132K	SERPINA3_uc001ydo.4_Missense_Mutation_p.E157K|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.E132K|SERPINA3_uc001yds.3_Missense_Mutation_p.E132K	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	132					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GTCCAGCGATGAGCTGCAGCT	0.537000														30			16		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564455	8564455	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:8564455G>A	uc002mkd.3	-	1	300	c.237C>T	c.(235-237)ctC>ctT	p.L79L		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	127	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|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						GCTTCTTGGGGAGGTCAGTGA	0.667000														193			9		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214914	3214914	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:3214914T>C	uc010zqe.2	-	4	592	c.467A>G	c.(466-468)gAc>gGc	p.D156G	SLC4A11_uc002wig.3_Missense_Mutation_p.D129G|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.D113G	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	129					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCCATCTAGGTCGCGGTGCGC	0.602000														163			5		0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34881062	34881062	+	Silent	SNP	T	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:34881062T>C	uc010wcy.2	-	6	1403	c.411A>G	c.(409-411)ggA>ggG	p.G137G	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Silent_p.G137G|MYO19_uc010wcz.1_Non-coding_Transcript|MYO19_uc010wda.1_Intron|MYO19_uc002hmx.2_Silent_p.G137G	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	137	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCCTACCTTTCCAGCACCAC	0.522000														166			11		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325020	79325020	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:79325020C>T	uc010mpk.3	-	7	2294	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	PRUNE2_uc022bih.1_Missense_Mutation_p.E546K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	724					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTACCCAGTTCAGGCTGACCA	0.468000														9			29		0	0	1	0	0
PAQR3	152559	broad.mit.edu	37	4	79841703	79841703	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:79841703G>A	uc003hlp.1	-	5	1130	c.926C>T	c.(925-927)tCa>tTa	p.S309L	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_Missense_Mutation_p.S191L	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	309						Golgi membrane|integral to membrane	receptor activity	p.S309S(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TCACAAATGTGAAACATAGTC	0.383000														81			4		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285190	44285190	+	Missense_Mutation	SNP	G	A	A	rs1998749	by1000genomes	TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:44285190G>A	uc010qfe.1	-	0	676	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		CCACCTCCACGACCCCTCTGT	0.473000														26			27		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678689	3678689	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:3678689C>T	uc002wja.3	-	7	1878	c.1878G>A	c.(1876-1878)gtG>gtA	p.V626V	SIGLEC1_uc002wiz.4_Silent_p.V626V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	626	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			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						GGTCGCTGTCCACACGGCACA	0.672000														36			10		0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52850901	52850901	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:52850901G>A	uc001ctt.3	-	9	1746	c.1515C>T	c.(1513-1515)ccC>ccT	p.P505P	ORC1_uc010oni.2_Silent_p.P500P|ORC1_uc001ctu.3_Silent_p.P505P	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	505	Necessary and sufficient for ORC complex assembly.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTTCCCGACAGGGAAGAGACT	0.473000														95			18		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3319465	3319465	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:3319465G>A	uc001akf.3	+	5	869	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	PRDM16_uc001ake.3_Missense_Mutation_p.G263S|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.G263S	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	263					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCTCTACGAGGGCCTGGCTGA	0.632000			T	EVI1	"""MDS, AML"""									45			33		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67298300	67298300	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:67298300G>T	uc002esm.3	+	12	1951	c.1888G>T	c.(1888-1890)Gag>Tag	p.E630*	SLC9A5_uc010cee.3_Nonsense_Mutation_p.E335*|SLC9A5_uc010vji.2_Nonsense_Mutation_p.E134*	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	630					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGATGCGCAGGAGCGGCAGGA	0.577000														30			8		9.70103e-10	9.86639e-10	1	1	0
BDKRB1	623	broad.mit.edu	37	14	96730546	96730546	+	Missense_Mutation	SNP	G	A	A	rs145002930		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:96730546G>A	uc021sbj.1	+	0	527	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	BDKRB1_uc001yfh.3_Missense_Mutation_p.R176Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	176					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TTCCTGCTGCGATCCATCCAA	0.612000														47			19		0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149003640	149003640	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:149003640G>A	uc003lra.1	+	9	1465	c.1401G>A	c.(1399-1401)acG>acA	p.T467T		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	467					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGGGCCGGACGAGTAACCAGC	0.582000														41			24		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155295197	155295197	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:155295197C>T	uc002tyt.4	+	9	1593	c.1489C>T	c.(1489-1491)Cac>Tac	p.H497Y	GALNT13_uc002tyr.4_Missense_Mutation_p.H497Y|GALNT13_uc010fod.3_Missense_Mutation_p.P229L|AX746678_uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	497	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.H497R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTTAAAATGCCACCATATGAG	0.333000														51			25		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157556184	157556184	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:157556184C>T	uc001fqw.3	-	5	1045	c.909G>A	c.(907-909)ggG>ggA	p.G303G	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	303	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCAGCATCTCCCCTTCAACAG	0.602000														112			27		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563733	176563733	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:176563733G>A	uc001gkz.3	+	2	2157	c.993G>A	c.(991-993)aaG>aaA	p.K331K	PAPPA2_uc001gky.1_Silent_p.K331K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	331					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						GGAAGGACAAGGGAAAGCGGG	0.552000														52			18		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025306	79025306	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:79025306A>T	uc003kgc.3	+	1	790	c.718A>T	c.(718-720)Att>Ttt	p.I240F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	240						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGAATTAATTCCTCTACA	0.313000														29			9		0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259856	71259856	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:71259856C>T	uc001oqs.1	+	0	391	c.153C>T	c.(151-153)gcC>gcT	p.A51A		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	51	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GTGTTCCAGCCTGTTCCTGCT	0.647000														94			131		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66074565	66074565	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:66074565G>A	uc001dci.3	+	11	2122	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	LEPR_uc001dcg.3_Missense_Mutation_p.G578E|LEPR_uc001dch.3_Missense_Mutation_p.G578E|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.G578E|LEPR_uc001dcj.3_Missense_Mutation_p.G578E|LEPR_uc001dck.3_Missense_Mutation_p.G578E	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	578	Fibronectin type-III 2.				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)		GGTTTAAGTGGAAAAGAAGTA	0.303000														50			14		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202232	248202232	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:248202232C>T	uc001idw.3	+	0	759	c.663C>T	c.(661-663)ctC>ctT	p.L221L	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V220A(1)		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)			GCCGGGTTCTCCTTGCTGTCT	0.502000														227			30		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131418768	131418768	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:131418768C>T	uc011blq.2	-	3	581	c.471G>A	c.(469-471)ggG>ggA	p.G157G	CPNE4_uc003eok.3_Silent_p.G139G|CPNE4_uc003eol.3_Silent_p.G157G|CPNE4_uc003eom.3_Silent_p.G139G	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	139	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						TGGAAGATTTCCCTGCTGTGT	0.502000														18			17		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50769860	50769860	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:50769860A>G	uc002xwl.3	-	5	1220	c.871T>C	c.(871-873)Ttc>Ctc	p.F291L	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.F289L|ZFP64_uc002xwn.3_Missense_Mutation_p.F237L	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ACATTGCAGAACTCGCACTTG	0.547000														48			64		0	0	1	0	0
CCDC25	55246	broad.mit.edu	37	8	27614250	27614250	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:27614250G>A	uc003xgc.3	-	3	267	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	CCDC25_uc011lan.2_Non-coding_Transcript|CCDC25_uc003xgd.3_Intron|CCDC25_uc011lao.2_Non-coding_Transcript|CCDC25_uc003xge.3_Intron|CCDC25_uc003xgf.1_Non-coding_Transcript	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	Homo sapiens coiled-coil domain containing 25 (CCDC25), mRNA.	52										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TGTAATCGAAGGTATACATGA	0.363000														14			16		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr18:19995558G>A	uc002ktv.1	-	0	2321	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGCTGGGGGGAAAAATGCAG	0.498000														13			20		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764282	120764282	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:120764282G>A	uc003eec.4	+	5	510	c.370_splice	c.e5-1	p.G124_splice	STXBP5L_uc011bji.2_Splice_Site_p.G124_splice	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	124					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)		TTTGTTCTAGGGTGCCTTGGT	0.358000														103			12		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21338406	21338406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr18:21338406C>T	uc002kuq.3	+	6	1080	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	LAMA3_uc010dlv.2_Missense_Mutation_p.R332C|LAMA3_uc002kur.3_Missense_Mutation_p.R332C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	332	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACGTGTGATCGCTGCTGCAC	0.597000														30			3		0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40483533	40483533	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:40483533G>A	uc002hzl.1	-	10	1306	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	STAT3_uc002hzk.1_Missense_Mutation_p.P356S|STAT3_uc002hzm.1_Missense_Mutation_p.P356S|STAT3_uc010wgh.1_Missense_Mutation_p.P258S|STAT3_uc002hzn.1_Missense_Mutation_p.P356S	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	356					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTCAACTCAGGGAATTTGACC	0.303000									Hyperimmunoglobulin E Recurrent Infection Syndrome					17			6		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535766	90535766	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:90535766C>T	uc010mqi.3	+	3	973	c.944C>T	c.(943-945)tCc>tTc	p.S315F	FAM75C1_uc004apq.4_Missense_Mutation_p.S298F	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GATCATCTTTCCCGCCAAAGG	0.552000														43			127		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383818	31383818	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:31383818C>T	uc002ebt.3	+	17	2347	c.2280C>T	c.(2278-2280)taC>taT	p.Y760Y	ITGAX_uc002ebu.1_Silent_p.Y760Y	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	760					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCAGAGATACTTCACGGCCT	0.632000														39			22		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70201880	70201881	+	Nonsense_Mutation	DNP	CC	TT	TT	rs145603046	byFrequency	TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:70201880_70201881CC>TT	uc001opo.3	+	17	2666_2667	c.2451_2452CC>TT	c.(2449-2454)ggccga>ggTTga	p.R818*	PPFIA1_uc001opn.2_Nonsense_Mutation_p.R818*|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	818					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAGAAAAGGGCCGACCTGGACA	0.545000														34			35		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201031193	201031193	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:201031193C>T	uc001gvv.3	-	23	3159	c.2932G>A	c.(2932-2934)Ggg>Agg	p.G978R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	978					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)	ATGGGGTCCCCGTCCTTGTAC	0.617000														19			20		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943434	89943434	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:89943434A>G	uc003kju.3	+	16	3238	c.3142A>G	c.(3142-3144)Aga>Gga	p.R1048G	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1048					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)		GGCTACTGCAAGAGAGAGAGA	0.418000														50			42		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45206729	45206729	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:45206729G>A	uc010xxd.2	+	2	354	c.148G>A	c.(148-150)Gcc>Acc	p.A50T		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	50								p.S49S(1)		endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GGAACTGCTCGCCTACAGCTG	0.647000														52			11		0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70900256	70900256	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:70900256C>T	uc003kbs.4	+	5	723	c.585C>T	c.(583-585)ttC>ttT	p.F195F	MCCC2_uc010iyv.1_Silent_p.F195F|MCCC2_uc003kbt.4_Non-coding_Transcript|MCCC2_uc003kbu.1_Silent_p.F64F	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	195	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GCCGTACATTCTATAATCAGG	0.363000														38			24		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285883	248285883	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:248285883C>T	uc001idy.1	+	0	446	c.446C>T	c.(445-447)tCc>tTc	p.S149F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		ATCATTGCTTCCTATGCTGGA	0.428000														425			13		0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58722937	58722937	+	Silent	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:58722937C>A	uc002qrq.1	+	7	1320	c.861C>A	c.(859-861)acC>acA	p.T287T	ZNF274_uc002qrr.1_Silent_p.T255T|ZNF274_uc002qrs.1_Silent_p.T182T|ZNF274_uc010eum.1_Silent_p.T47T	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	288	KRAB 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGCCAGTGACCTTCCAGGATG	0.582000														196			65		8.3131e-28	8.57663e-28	1	1	0
TAS1R1	80835	broad.mit.edu	37	1	6631189	6631189	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:6631189C>T	uc001ant.3	+	1	508	c.412C>T	c.(412-414)Cct>Tct	p.P138S	TAS1R1_uc001anu.3_Missense_Mutation_p.P138S|TAS1R1_uc021ofp.1_Missense_Mutation_p.P60S	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	138					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCACTATTCCCCTACGGTGCT	0.592000														92			56		0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166786250	166786250	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:166786250G>A	uc002udk.3	-	9	1228	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	TTC21B_uc002udl.3_Silent_p.I365I	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	365						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACTGACATTGGATAAATCCTA	0.368000														22			19		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284364	223284364	+	Silent	SNP	A	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:223284364A>G	uc021pjl.1	-	0	2010	c.2010T>C	c.(2008-2010)tgT>tgC	p.C670C	TLR5_uc001hnv.2_Silent_p.C670C|TLR5_uc001hnw.2_Silent_p.C670C	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	670			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTGTCTTATAACAGATAAAAC	0.458000														73			15		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940632	22940632	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:22940632C>T	uc021urt.1	-	3	2234	c.2079G>A	c.(2077-2079)agG>agA	p.R693R		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCCTAAGGGCTG	0.373000														53			22		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103317235	103317235	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr13:103317235A>G	uc001vpi.4	+	25	3395	c.3292A>G	c.(3292-3294)Atg>Gtg	p.M1098V		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1098					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTATATTGCAATGAAGACTGA	0.358000														28			6		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20796595	20796595	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:20796595C>T	uc002zsl.2	-	6	1827	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	KLHL22_uc011ahr.2_Missense_Mutation_p.G414D	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	557					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGTGCGGCTGCCGCGGTTGTG	0.612000														81			26		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266988	16266988	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:16266988C>T	uc010gqp.2	-	8	1513	c.1461G>A	c.(1459-1461)agG>agA	p.R487R	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.R206R|POTEH_uc002zlj.1_Silent_p.R322R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	487								p.R487K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTGCTTTTCCTTGGTGGAA	0.433000														217			59		0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38241319	38241319	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:38241319G>A	uc001ize.1	-	5	1212	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P	ZNF25_uc001izf.1_Silent_p.P333P	NM_145011	NP_659448	P17030	ZNF25_HUMAN	Homo sapiens zinc finger protein 25 (ZNF25), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TGCATTCATAGGGCTTCTCCC	0.408000														20			34		0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159821898	159821898	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:159821898G>C	uc003lye.1	-	1	1064	c.600C>G	c.(598-600)atC>atG	p.I200M	C5orf54_uc003lyf.1_Missense_Mutation_p.I200M|C5orf54_uc021yhc.1_Missense_Mutation_p.I200M	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	Homo sapiens chromosome 5 open reading frame 54 (C5orf54), mRNA.	200								p.I200I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						attcttctacgatctctcttt	0.408000														50			3		0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79384407	79384407	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:79384407C>T	uc002sod.2	-	4	821	c.473G>A	c.(472-474)tGg>tAg	p.W158*	REG3A_uc002soe.2_Nonsense_Mutation_p.W158*|REG3A_uc002sof.2_Nonsense_Mutation_p.W158*	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	158	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.R157W(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATAATCTTTCCACCTCAGAAA	0.458000														39			12		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976794	4976794	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:4976794G>A	uc010qyt.2	-	0	150	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCTTGATGATAAAAAGAA	0.443000														17			13		0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137485337	137485338	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:137485337_137485338GG>AA	uc003lcf.1	-	22	3324_3325	c.3269_3270CC>TT	c.(3268-3270)tcc>tTT	p.S1090F		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1090					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACAGCTTTGAGGAGGTAGCATG	0.411000														23			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166145	140166145	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:140166145C>T	uc003lhb.2	+	0	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Silent_p.I90I|PCDHAC2_uc003lgz.3_Silent_p.I90I	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	105	Cadherin 1.				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)			ATTCTCGGATCGATCGCGAGG	0.577000														116			33		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183474319	183474319	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:183474319C>T	uc003fly.2	+	11	1589	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	465					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAATAAGGTTCCCCAATATCA	0.448000														57			74		0	0	1	0	0
CLDN3	1365	broad.mit.edu	37	7	73184018	73184019	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:73184018_73184019CC>GT	uc003tzg.4	-	0	582_583	c.361_362GG>AC	c.(361-363)ggc>ACc	p.G121T		NM_001306	NP_001297	O15551	CLD3_HUMAN	Homo sapiens claudin 3 (CLDN3), mRNA.	121					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				GAACAGCACGCCTGCCACGATG	0.673000														25			24		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038181	75038181	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:75038181C>T	uc001dgg.3	-	13	3432	c.3213G>A	c.(3211-3213)agG>agA	p.R1071R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1071	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						AGTCAGTTTTCCTCAGAGATG	0.408000														81			65		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19924175	19924175	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:19924175G>A	uc003cbl.4	-	11	2391	c.2195C>T	c.(2194-2196)cCc>cTc	p.P732L	EFHB_uc003cbm.3_Missense_Mutation_p.P602L	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	732					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.R731Q(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACGAATTCGGGGAGCAGGAAT	0.418000														12			19		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89653814	89653814	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:89653814C>T	uc001kfb.3	+	1	1144	c.112C>T	c.(112-114)Cct>Tct	p.P38S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	38	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P38S(11)|p.?(8)|p.Y27fs*1(2)|p.F37S(2)|p.Y27_N212>Y(2)|p.P38R(1)|p.P38L(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATGGGATTTCCTGCAGAAAG	0.284000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				32			14		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859478	189859478	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:189859478G>A	uc002uqj.1	+	19	1493	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	459	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTGTTCCAGGAGCTAAAGGC	0.433000														54			43		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81589138	81589138	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:81589138G>A	uc003uhr.1	-	36	3230	c.2974C>T	c.(2974-2976)Cat>Tat	p.H992Y	CACNA2D1_uc011kgy.1_Missense_Mutation_p.H204Y	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	1004						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTTTCTCCATGAAAGATTCTG	0.333000														20			5		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	66813	66813	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrGL000209.1:66813C>T	uc002qud.4	+	4	929	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.R259C|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.R303C|KIR2DL2_uc002quc.4_Missense_Mutation_p.R264C|KIR2DL2_uc002quh.4_Intron|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Intron|KIR2DL2_uc010evf.3_Non-coding_Transcript	NM_002255	NP_002246	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	266					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCTCCTTCATCGCTGGTGCTC	0.527000														24			8		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860507	13860507	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:13860507G>A	uc003bye.1	-	3	1289	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	328					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AGCACCAGTGGAACTTACAGT	0.617000														58			4		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503257	140503257	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:140503257C>T	uc003lip.1	+	0	1677	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	559	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)			ACTCGCCCTTCGTGCTGTACC	0.701000														86			60		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581467	56581467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:56581467G>A	uc002iwj.2	-	13	1710	c.1600C>T	c.(1600-1602)Ctt>Ttt	p.L534F		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	534	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGCTCGAAGGAGCGCCCAC	0.512000														132			30		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30011131	30011131	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:30011131C>T	uc001zcr.3	-	20	3690	c.3215G>A	c.(3214-3216)cGa>cAa	p.R1072Q	TJP1_uc010azl.3_Missense_Mutation_p.R1060Q|TJP1_uc001zcq.3_Missense_Mutation_p.R996Q|TJP1_uc001zcs.3_Missense_Mutation_p.R992Q	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1072					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction		p.R1072R(1)|p.S1071F(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTCATAGTTTCGAGAAAACTG	0.488000														149			31		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7721773	7721773	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:7721773G>A	uc002giu.1	+	67	10545	c.10531G>A	c.(10531-10533)Gaa>Aaa	p.E3511K	DNAH2_uc010cnm.1_Missense_Mutation_p.E449K	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3511	AAA 5 (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)				TGCTGTTAAAGAACAGGTGGG	0.502000														176			53		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139180146	139180146	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:139180146G>A	uc003yuy.3	-	11	1421	c.1250C>T	c.(1249-1251)cCt>cTt	p.P417L	FAM135B_uc003yux.3_Missense_Mutation_p.P318L|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	417								p.P417L(3)|p.P417S(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCTGTCGCAGGGCAGTCCAC	0.507000										HNSCC(54;0.14)				59			110		0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50388291	50388291	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:50388291C>T	uc001rvt.2	-	13	1355	c.1045_splice	c.e13-1	p.G349_splice	RACGAP1_uc009zlm.1_Splice_Site_p.G349_splice|RACGAP1_uc001rvs.2_Splice_Site_p.G349_splice|RACGAP1_uc001rvu.2_Splice_Site_p.G349_splice	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	349	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGCCAGCATTCCCTGGAAAAA	0.413000														35			20		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413710	22413710	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:22413710G>A	uc001yuf.3	+	0	249	c.9G>A	c.(7-9)gtG>gtA	p.V3V	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		AGATGTTGGTGGACTTCCTCT	0.517000														277			16		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16251661	16251661	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:16251661G>A	uc002den.4	-	26	3778	c.3741C>T	c.(3739-3741)ccC>ccT	p.P1247P	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.	1247					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)		GCAGCCTCCAGGGAGCCTGGA	0.597000														30			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307693	140307693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:140307693G>A	uc003lih.2	+	0	1392	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	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_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E406K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	430	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)			CCTGGACCGGGAGCAGATCAG	0.532000														44			9		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045585	40045585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:40045585G>A	uc011byr.1	-	2	565	c.71C>T	c.(70-72)gCc>gTc	p.A24V						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		AGCCAGAGCGGCCACACAGCG	0.622000														7			10		0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903989	11903989	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:11903989C>T	uc002wnz.3	+	3	1603	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	BTBD3_uc002wny.3_Missense_Mutation_p.S354F|BTBD3_uc002woa.3_Missense_Mutation_p.S354F|BTBD3_uc010zrf.2_Missense_Mutation_p.S264F|BTBD3_uc010zrg.2_Missense_Mutation_p.S264F|BTBD3_uc010zrh.2_Missense_Mutation_p.S264F	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	415								p.S415C(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CTGTATGGCTCCAGCTGTGGT	0.517000														81			12		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132556461	132556461	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:132556461C>T	uc003kyn.1	-	11	1655	c.1437G>A	c.(1435-1437)acG>acA	p.T479T	FSTL4_uc003kym.1_Silent_p.T128T	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	479						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)			AAATCTTTTCCGTGGGTTTGA	0.478000														44			32		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135423	156135423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:156135423C>T	uc003ioq.3	+	1	821	c.332C>T	c.(331-333)aCc>aTc	p.T111I	NPY2R_uc003ior.3_Missense_Mutation_p.T111I|NPY2R_uc021xtm.1_Missense_Mutation_p.T111I	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	111					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)				CTTACCTATACCTTAATGGGG	0.488000														46			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22712403	22712403	+	RNA	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:22712403G>A	uc021wml.1	+	43		c.4814G>A								Parts of antibodies, mostly variable regions.																		TCCAACATCGGAAGTAATTAT	0.577000														141			179		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327224	150327224	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:150327224C>T	uc022apv.1	-	1	487	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	GIMAP6_uc003whn.3_Missense_Mutation_p.E3K|GIMAP6_uc003whm.3_Missense_Mutation_p.E3K	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	3							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTCTTCTTCCTCCATCTAC	0.428000														70			47		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25674775	25674775	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:25674775C>T	uc003grr.3	+	9	1196	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	SLC34A2_uc003grs.3_Missense_Mutation_p.S371F|SLC34A2_uc010iev.3_Missense_Mutation_p.S371F	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	372					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTCATACTCTCCCTGCTGGTC	0.517000			T	ROS1	NSCLC									85			10		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564419	8564419	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:8564419G>A	uc002mkd.3	-	1	336	c.273C>T	c.(271-273)ctC>ctT	p.L91L		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	139	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|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						GCTTCTTGGGGAGGTCAGTGA	0.662000														227			8		0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134050865	134050865	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:134050865G>A	uc011ljd.2	-	6	933	c.855C>T	c.(853-855)acC>acT	p.T285T	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Silent_p.T245T|SLA_uc011lje.2_Silent_p.T262T|SLA_uc011ljf.2_Silent_p.T137T|SLA_uc011ljg.2_Silent_p.T218T	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	245						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GATCAAAGGAGGTGTTGTCCT	0.498000														162			15		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18305764	18305764	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:18305764C>A	uc002zng.4	-	22	3609	c.3256G>T	c.(3256-3258)Gag>Tag	p.E1086*	MICAL3_uc011agl.2_Intron	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1086	Glu-rich.					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)		TCTGCTGCCTCCCCTTCTATC	0.572000														73			8		1.12685e-05	1.13478e-05	1	1	0
PRAM1	84106	broad.mit.edu	37	19	8564383	8564383	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:8564383G>A	uc002mkd.3	-	1	372	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	151	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|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						GCTTCTTGGGGAGGTCAGTGA	0.662000														226			6		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20793104	20793104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:20793104C>T	uc010kuh.3	+	26	3788	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L	ABCB5_uc003suw.4_Missense_Mutation_p.S739L	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	739					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						GAGGCCACTTCAGCCCTCGAT	0.398000														39			31		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17409101	17409101	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:17409101G>A	uc001baf.3	-	9	1179	c.1097C>T	c.(1096-1098)cCc>cTc	p.P366L	PADI2_uc010ocm.2_Missense_Mutation_p.P250L|PADI2_uc001bag.1_Missense_Mutation_p.P366L	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	366					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CAGCACCACGGGGAAGCCTTT	0.547000														46			23		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41691554	41691554	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:41691554G>A	uc003gvz.4	+	29	4594	c.4177G>A	c.(4177-4179)Gga>Aga	p.G1393R	LIMCH1_uc003gwe.4_Missense_Mutation_p.G906R|LIMCH1_uc003gvu.4_Missense_Mutation_p.G1009R|LIMCH1_uc003gvv.4_Missense_Mutation_p.G983R|LIMCH1_uc003gvw.4_Missense_Mutation_p.G982R|LIMCH1_uc003gvx.4_Missense_Mutation_p.G995R|LIMCH1_uc003gvy.4_Missense_Mutation_p.G811R|LIMCH1_uc003gwa.4_Missense_Mutation_p.G823R|LIMCH1_uc011byu.2_Missense_Mutation_p.G842R|LIMCH1_uc003gwc.4_Missense_Mutation_p.G828R|LIMCH1_uc003gwd.4_Missense_Mutation_p.G816R|LIMCH1_uc011byv.2_Missense_Mutation_p.G759R|LIMCH1_uc011byw.2_Missense_Mutation_p.G282R	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	1009					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTCTATAAGTGGAAAGAAGCT	0.383000														10			28		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16328252	16328252	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:16328252G>A	uc003nbt.3	-	7	1261	c.290C>T	c.(289-291)cCc>cTc	p.P97L	ATXN1_uc010jpi.3_Missense_Mutation_p.P97L|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	97					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGTGGCCACGGGGACAGACCT	0.642000														122			74		0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364696	29364696	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:29364696G>A	uc003nmf.4	+	0	281	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V74L(2)|p.T73T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTACTCTACGGTGACACTGCC	0.458000														52			46		0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4600388	4600388	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:4600388G>A	uc001qms.3	-	11	1541	c.1453C>T	c.(1453-1455)Ccc>Tcc	p.P485S	C12orf4_uc001qmt.3_Missense_Mutation_p.P485S	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.	485										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		AAGCACCAGGGTATAGTCATT	0.348000														71			23		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766249	43766249	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:43766249G>A	uc002owd.4	-	2	571	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	PSG9_uc002owe.4_Missense_Mutation_p.P158S|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.P158S	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	158	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCCTCCCTGGGGTTTAAGTTG	0.532000														236			73		0	0	1	0	0
ISG20	3669	broad.mit.edu	37	15	89195471	89195471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:89195471C>T	uc002bmv.1	+	2	652	c.359C>T	c.(358-360)gCc>gTc	p.A120V	ISG20_uc002bmu.1_Non-coding_Transcript|ISG20_uc010upn.1_Non-coding_Transcript	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa (ISG20), mRNA.	120					DNA catabolic process, exonucleolytic|RNA catabolic process|cell proliferation|response to virus|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|RNA binding|exoribonuclease II activity|metal ion binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			TGGCGTGAGGCCAAGCTGGAC	0.592000														67			17		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372594	180372594	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:180372594C>T	uc010hxe.3	-	6	1001	c.886G>A	c.(886-888)Gca>Aca	p.A296T	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	296					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCCTGATATGCCGTTCTACAT	0.348000														19			11		0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669111	80669111	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:80669111G>A	uc021rxa.1	-	2	904	c.851C>T	c.(850-852)tCc>tTc	p.S284F	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.S248F|DIO2_uc010asy.3_Missense_Mutation_p.S248F	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	248					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAGGTTGTAGGAGAAGGGGCC	0.438000														24			14		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570323	136570323	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:136570323C>T	uc002tuu.1	-	6	1922	c.1911G>A	c.(1909-1911)gtG>gtA	p.V637V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	637	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)		AGTCTCCATCCACAAAGACGG	0.582000														100			31		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544950	82544950	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:82544950G>A	uc003uhx.2	-	6	12641	c.12352C>T	c.(12352-12354)Cct>Tct	p.P4118S	PCLO_uc003uhv.2_Missense_Mutation_p.P4118S|PCLO_uc010lec.3_Missense_Mutation_p.P1083S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4049					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						AACTCGTAAGGATCCTCCATT	0.443000														40			28		0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22324726	22324726	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:22324726G>A	uc002zvs.3	-	5	872	c.437C>T	c.(436-438)aCc>aTc	p.T146I	TOP3B_uc010gtm.2_5'Flank|TOP3B_uc002zvt.4_Missense_Mutation_p.T146I|TOP3B_uc010gtl.3_Missense_Mutation_p.T146I	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	146	Toprim.				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCGGAACACGGTCTTCTCGCC	0.607000														30			29		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99515323	99515323	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr13:99515323G>A	uc001vnt.2	-	31	3587	c.3532C>T	c.(3532-3534)Cag>Tag	p.Q1178*	DOCK9_uc001vnw.2_Nonsense_Mutation_p.Q1177*|DOCK9_uc021rlw.1_Nonsense_Mutation_p.Q1177*|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Nonsense_Mutation_p.Q1178*|DOCK9_uc010tis.1_Nonsense_Mutation_p.Q1177*|DOCK9_uc010tit.1_Nonsense_Mutation_p.Q1178*|DOCK9_uc010tiq.1_Nonsense_Mutation_p.Q156*|DOCK9_uc010afu.1_Nonsense_Mutation_p.Q1024*	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1178					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGATCCGCTGGACGTTTTCA	0.517000														5			9		0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457437	159457437	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:159457437G>A	uc003qrz.3	-	9	1950	c.1618C>T	c.(1618-1620)Ccg>Tcg	p.P540S	TAGAP_uc011eft.2_Missense_Mutation_p.P477S|TAGAP_uc003qsa.3_Missense_Mutation_p.P362S	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	540					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			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)		ACACCCCTCGGGACGTGGTCC	0.562000														43			36		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	373472	373472	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:373472G>A	uc002lol.3	-	3	606	c.563C>T	c.(562-564)cCc>cTc	p.P188L	THEG_uc002lom.3_Missense_Mutation_p.P164L	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	188					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCTACCGGGCACTGTGAT	0.667000														31			16		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19634765	19634765	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:19634765G>A	uc002wrl.3	+	6	869	c.672G>A	c.(670-672)gtG>gtA	p.V224V		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	224						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGCTGTCTGTGATCGCGCTCA	0.517000														64			25		0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16855866	16855866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:16855866C>T	uc002gqs.1	-	1	106	c.93G>A	c.(91-93)atG>atA	p.M31I	TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	31					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.M31I(2)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GGCAGGATCTCATAGCCACCC	0.617000									IgA Deficiency, Selective					37			29		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31562485	31562485	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:31562485G>A	uc002rnv.1	-	33	3723	c.3644C>T	c.(3643-3645)tCc>tTc	p.S1215F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1215					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)	CCCCTCGGGGGAATAGTGTAG	0.602000														39			36		0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84412889	84412889	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:84412889G>A	uc001djc.3	-	5	820	c.424C>T	c.(424-426)Caa>Taa	p.Q142*	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	142	TTL.				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)		ACATAATTTTGGAATTGAGTA	0.358000														34			4		0	0	1	0	0
SAT2	112483	broad.mit.edu	37	17	7530945	7530945	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:7530945G>A	uc002gic.2	-	0	250	c.9C>T	c.(7-9)tcC>tcT	p.S3S	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SAT2_uc002gib.1_Non-coding_Transcript|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank|SHBG_uc002gie.2_5'Flank|SHBG_uc010cnd.2_5'Flank|SHBG_uc010cna.2_5'Flank|SHBG_uc010vue.1_5'Flank|SHBG_uc010vuf.1_5'Flank|SHBG_uc010cnb.2_5'Flank|SHBG_uc010cnc.2_5'Flank	NM_133491	NP_597998	Q96F10	SAT2_HUMAN	Homo sapiens spermidine/spermine N1-acetyltransferase family member 2 (SAT2), mRNA.	3						cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	GGATCCGCACGGAAGCCATCC	0.622000														33			32		0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538467	152538467	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:152538467C>T	uc021oyz.1	-	0	218	c.218G>A	c.(217-219)aGg>aAg	p.R73K	LCE3E_uc001faa.3_Missense_Mutation_p.R73K	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	73					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		ACCACTGCCCCTGTCACAGGA	0.652000														225			32		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714720	92714720	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:92714720G>A	uc001pdk.1	+	1	434	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	111					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCTGGGGGAGGAGCACTGCAA	0.582000														61			73		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38743382	38743382	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:38743382G>A	uc003ciq.3	-	25	4605	c.4605C>T	c.(4603-4605)ttC>ttT	p.F1535F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1535					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)	AGCCATTTGTGAAGTAGTACT	0.488000														30			31		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47765657	47765657	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:47765657G>A	uc001crd.1	-	5	776	c.621C>T	c.(619-621)atC>atT	p.I207I	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Intron|STIL_uc010omo.1_Silent_p.I207I|STIL_uc001crc.1_Silent_p.I207I|STIL_uc001cre.1_Silent_p.I207I|STIL_uc001crg.1_Intron	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	207					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GAATAATGGGGATGGGCTTCA	0.388000														56			18		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015708	21015708	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:21015708G>A	uc010sil.2	+	5	712	c.647G>A	c.(646-648)gGa>gAa	p.G216E	SLCO1B3_uc001rek.3_Missense_Mutation_p.G216E|SLCO1B3_uc001rel.3_Missense_Mutation_p.G216E|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	216					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AATGCAATAGGAATGATTGGT	0.318000														52			16		0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36218285	36218285	+	Silent	SNP	A	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:36218285A>G	uc010mlh.3	-	10	2049	c.1828T>C	c.(1828-1830)Ttg>Ctg	p.L610L	GNE_uc010mlg.3_Silent_p.L536L|GNE_uc011lpl.2_Silent_p.L500L|GNE_uc010mli.3_Silent_p.L641L|GNE_uc010mlj.3_Silent_p.L605L	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA.	610	N-acetylmannosamine kinase.				N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CCTTCCACCAAGAGCAGGTCC	0.547000														72			22		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901648	31901648	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:31901648C>T	uc003nyc.2	+	2	337	c.116C>T	c.(115-117)cCt>cTt	p.P39L	CFB_uc011doo.2_Intron|CFB_uc011dop.2_Silent_p.P84P|CFB_uc003nye.4_Silent_p.P207P|CFB_uc003nyf.3_Silent_p.P207P|CFB_uc010jtk.3_Silent_p.P75P|CFB_uc011doq.2_Silent_p.P178P|CFB_uc011dor.2_Silent_p.P145P			P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 2, mRNA.	0	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCACAGAACCCTACTCTTATG	0.632000														55			44		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685886	125685886	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:125685886C>T	uc022cds.1	-	0	706	c.706G>A	c.(706-708)Gag>Aag	p.E236K	DCAF12L1_uc004eul.3_Missense_Mutation_p.E236K	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	236								p.E236*(2)|p.S235C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGACCCACCTCGCTATGCCAG	0.652000														27			32		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					63			37		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755472	79755472	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:79755472C>T	uc002bew.1	+	2	2437	c.2362C>T	c.(2362-2364)Ctg>Ttg	p.L788L	KIAA1024_uc010unk.1_Silent_p.L788L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	788						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGATGGCTTCCTGGTGGAGCA	0.607000														63			12		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143772241	143772241	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:143772241C>T	uc011ktx.2	+	0	929	c.929C>T	c.(928-930)tCa>tTa	p.S310L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AAGAGAACTTCATGAAAGCCT	0.398000														171			88		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3045437	3045437	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:3045437G>A	uc022aqr.1	-	35	5964	c.5574C>T	c.(5572-5574)atC>atT	p.I1858I	CSMD1_uc011kwj.2_Silent_p.I1251I|CSMD1_uc003wqe.3_Silent_p.I1015I|CSMD1_uc010lrg.3_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1859	CUB 11.					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)		CACCATCGTGGATCTCAAGGG	0.448000														22			4		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10451190	10451190	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:10451190G>A	uc010coi.3	-	2	176	c.48C>T	c.(46-48)ttC>ttT	p.F16F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F16F|MYH2_uc010coj.3_Silent_p.F16F	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	16	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						ACTTTCGGAGGAAAGGAGCAG	0.478000														43			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014639	9014639	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:9014639C>T	uc002mkp.3	-	30	38540	c.38336G>A	c.(38335-38337)aGc>aAc	p.S12779N	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12781	SEA 5.			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						CACTCCAGGGCTTTTGGGGTC	0.557000														81			39		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117303092	117303092	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:117303092G>A	uc001egu.4	+	2	480	c.451G>A	c.(451-453)Gga>Aga	p.G151R	CD2_uc010owz.1_Missense_Mutation_p.G151R|CD2_uc010oxa.1_Intron	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	151	Ig-like C2-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GGTAATGAATGGAACTGACCC	0.408000														42			29		0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46136371	46136371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:46136371C>T	uc003bgm.2	+	8	1392	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	ATXN10_uc011aqt.2_Missense_Mutation_p.R312C|ATXN10_uc003bgn.2_Missense_Mutation_p.R187C	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	376					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TCATCTCATTCGTCTGATTGG	0.368000														97			25		0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21305245	21305245	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:21305245G>A	uc011lnh.2	-	0	68	c.11C>T	c.(10-12)cCc>cTc	p.P4L		NM_002169	NP_002160	P01569	IFNA5_HUMAN	Homo sapiens interferon, alpha 5 (IFNA5), mRNA.	4					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TAAAACAAAGGGCAAGGCCAT	0.522000														20			62		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30681833	30681833	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:30681833G>A	uc003ahi.3	-	11	1431	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	TBC1D10A_uc003ahd.3_Silent_p.F303F|TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc010gvq.3_Non-coding_Transcript	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 2, mRNA.	0						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGGCGTGGTCGAAGTTGAAGG	0.607000														12			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068007	9068007	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:9068007C>T	uc002mkp.3	-	2	19643	c.19439G>A	c.(19438-19440)gGa>gAa	p.G6480E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6482	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						TTGTGAAAATCCATGAGTCAT	0.493000														68			43		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131548	35131548	+	Silent	SNP	G	A	A	rs144021252	by1000genomes	TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:35131548G>A	uc003teq.1	-	19	2145	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TGGCACCTGCGAAGACAGCAT	0.388000														47			3		0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81295790	81295790	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:81295790C>T	uc002fgn.1	+	3	591	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	BCMO1_uc002fgm.1_Silent_p.L125L|BCMO1_uc010vnp.1_Silent_p.L56L	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	125					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						CGACAACTGCCTGATCAACAT	0.498000														118			52		0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55992908	55992909	+	Silent	DNP	CC	TT	TT			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:55992908_55992909CC>TT	uc021vbv.1	+	0	336_337	c.336_337CC>TT	c.(334-339)ggcctg>ggTTtg	p.112_113GL>GL	ZNF628_uc002qld.2_Silent_p.112_113GL>GL	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	112						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TGCACACCGGCCTGCGGGCCTT	0.668000														34			5		0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208331	53208331	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:53208331G>A	uc002pzz.3	-	6	2294	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F	ZNF611_uc010eqc.3_Silent_p.F589F|ZNF611_uc010ydo.2_Silent_p.F589F|ZNF611_uc010ydp.2_Silent_p.F659F|ZNF611_uc010ydq.2_Silent_p.F659F|ZNF611_uc010ydr.2_Silent_p.F590F|ZNF611_uc002qaa.4_Silent_p.F589F|ZNF611_uc021uyy.1_Silent_p.F590F	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATTACGCACGAAAGCCTTGT	0.408000														94			50		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599764	116599764	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:116599764C>G	uc003yny.3	-	4	2742	c.2164G>C	c.(2164-2166)Gag>Cag	p.E722Q	TRPS1_uc011lhy.2_Missense_Mutation_p.E713Q|TRPS1_uc003ynz.3_Missense_Mutation_p.E709Q|TRPS1_uc010mcy.3_Missense_Mutation_p.E709Q	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	709	Mediates interaction with GLI3.				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTGAAGTGCTCCAGTAGTGAC	0.493000									Langer-Giedion syndrome					73			125		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113816709	113816709	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:113816709C>T	uc001pok.3	+	8	1314	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	HTR3B_uc001pol.3_Silent_p.L381L	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	392	HA-stretch.				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GCAACTACCTCCAAACTCAGG	0.557000														23			26		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511156	61511156	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:61511156G>A	uc002ydr.2	-	15	6464	c.6152C>T	c.(6151-6153)tCc>tTc	p.S2051F	DIDO1_uc002yds.2_Missense_Mutation_p.S2051F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2051					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)					CGCACTGGAGGAGAGCGCGGA	0.701000														120			144		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38119752	38119752	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:38119752C>T	uc003gtb.3	+	16	3259	c.2901C>T	c.(2899-2901)gcC>gcT	p.A967A	TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Silent_p.A754A|TBC1D1_uc021xnh.1_Silent_p.A64A|TBC1D1_uc021xni.1_Silent_p.A64A|TBC1D1_uc003gtd.3_5'Flank	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	967	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCTACGCTGCCCCCTGGTTCC	0.532000														187			56		0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3477143	3477143	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:3477143G>A	uc010vro.2	-	12	1953	c.1920C>T	c.(1918-1920)aaC>aaT	p.N640N	TRPV1_uc010vrp.2_Silent_p.N569N|TRPV1_uc010vrq.2_Silent_p.N627N|TRPV1_uc010vrr.2_Silent_p.N629N|TRPV1_uc010vrs.2_Silent_p.N629N|TRPV1_uc010vrt.2_Silent_p.N629N|TRPV1_uc010vru.2_Silent_p.N629N	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	629					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGTACAGGCTGTTGTAGGAGC	0.582000														65			6		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147264	77147264	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:77147264C>G	uc011bgk.2	+	1	804	c.161C>G	c.(160-162)gCg>gGg	p.A54G	ROBO2_uc021xat.1_Missense_Mutation_p.A70G|ROBO2_uc003dpy.4_Missense_Mutation_p.A54G|ROBO2_uc003dpz.3_Missense_Mutation_p.A54G|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	54	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AACTGCAAGGCGGAGGGCCGG	0.617000														44			9		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766122	43766122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:43766122C>T	uc002owd.4	-	2	698	c.599G>A	c.(598-600)aGg>aAg	p.R200K	PSG9_uc002owe.4_Missense_Mutation_p.R200K|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.R200K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	200	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ATAGAGGGTCCTGTTGGTTTT	0.498000														315			108		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29598891	29598891	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr13:29598891G>A	uc001usl.4	+	0	144	c.86G>A	c.(85-87)aGa>aAa	p.R29K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	19						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.R29I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGGGACAACAGAAATGCAGCA	0.458000														22			38		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:56539808C>T	uc002qmj.3	+	6	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	737						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498000														127			66		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117727192	117727192	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:117727192C>T	uc004eqp.2	+	19	2218	c.2155C>T	c.(2155-2157)Ccc>Tcc	p.P719S	DOCK11_uc004eqq.2_Missense_Mutation_p.P485S	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	719	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AATTGAGCTTCCCATTCACCT	0.338000														31			30		0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973907	128973907	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:128973907C>T	uc001lju.1	-	0	794	c.753G>A	c.(751-753)acG>acA	p.T251T	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.T251T|FAM196A_uc001ljv.1_Silent_p.T251T|FAM196A_uc009yap.1_Silent_p.T251T	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGGCAACCTCCGTTTTAAACA	0.657000														13			14		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92139226	92139226	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:92139226G>A	uc001xzs.1	-	12	1253	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	CATSPERB_uc010aub.1_5'Flank	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	371					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)				TATAGAAGAGGTAAACTCCAG	0.348000														50			50		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8331706	8331706	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:8331706G>A	uc003zkk.3	-	43	6153	c.5410C>T	c.(5410-5412)Cag>Tag	p.Q1804*	PTPRD_uc003zkp.3_Nonsense_Mutation_p.Q1398*|PTPRD_uc003zkq.3_Nonsense_Mutation_p.Q1397*|PTPRD_uc003zkr.3_Nonsense_Mutation_p.Q1388*|PTPRD_uc003zks.3_Nonsense_Mutation_p.Q1397*|PTPRD_uc022bdj.1_Nonsense_Mutation_p.Q1394*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1804	Tyrosine-protein phosphatase 2.				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)		TCAGTGAACTGGAACTGCCTT	0.512000										TSP Lung(15;0.13)				28			44		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343937	248343937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:248343937C>T	uc010pzf.2	+	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			ATCATTGCTTCCTATGCTCGA	0.433000														214			31		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217208	21217208	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:21217208C>A	uc003zor.1	-	0	103	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	33					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G33C(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTCCTATTACCCAGGCTGTGA	0.512000														141			33		3.67414e-24	3.78516e-24	1	1	0
OR2T10	127069	broad.mit.edu	37	1	248756631	248756631	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:248756631C>T	uc010pzn.2	-	0	439	c.439G>A	c.(439-441)Ggc>Agc	p.G147S		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACCAGCAGCCTGATGCCAGG	0.547000														75			113		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163051225	163051225	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:163051225C>T	uc002ucd.3	-	16	1644	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	FAP_uc010fpc.3_Missense_Mutation_p.G28E|FAP_uc010zct.2_Missense_Mutation_p.G454E	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	479					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATCAGTGCGTCCATCATGAAG	0.448000														44			27		0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30128290	30128290	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:30128290G>A	uc002dws.3	-	6	1042	c.942C>T	c.(940-942)aaC>aaT	p.N314N	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Silent_p.N200N|MAPK3_uc002dwv.4_Silent_p.N270N|MAPK3_uc002dwt.3_Silent_p.N314N	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	314	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding 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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GTTTATTGGGGTTAAAGGTTA	0.582000														143			60		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61615955	61615955	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:61615955C>T	uc002jay.3	+	7	1966	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	KCNH6_uc010wpl.2_Missense_Mutation_p.S506F|KCNH6_uc010wpm.2_Missense_Mutation_p.S629F|KCNH6_uc002jaz.1_Missense_Mutation_p.S576F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	629					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)	GACGTGCTCTCCACCCTCTAC	0.682000														22			20		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88968026	88968026	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:88968026C>T	uc002fmm.2	-	1	479	c.190G>A	c.(190-192)Gac>Aac	p.D64N	CBFA2T3_uc002fml.2_Missense_Mutation_p.D3N|CBFA2T3_uc010cif.1_Missense_Mutation_p.D3N|CBFA2T3_uc002fmn.2_Missense_Mutation_p.D64N	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	64	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTGGGGAGTCCGGCATCGCT	0.682000			T	RUNX1	AML									49			18		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947896	40947897	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:40947896_40947897GG>AA	uc002ibj.3	+	15	3344_3345	c.3276_3277GG>AA	c.(3274-3279)aaggaa>aaAAaa	p.E1093K	WNK4_uc010wgx.2_Missense_Mutation_p.E757K|CCDC56_uc010wgz.1_Missense_Mutation_p.P121F|CNTD1_uc002ibm.4_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	1093					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGATGGGAAGGAACCCCAAGT	0.624000														49			16		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:152327955G>A	uc001ezw.4	-	2	2380	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(2)		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)			GTTGGCCATAGCTAGACTGAC	0.517000														668			9		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573519	140573519	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:140573519G>A	uc003lix.3	+	0	1568	c.1394G>A	c.(1393-1395)aGc>aAc	p.S465N		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	465	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACAACAGCCCCGCCCTG	0.632000														156			94		0	0	1	0	0
RBM24	221662	broad.mit.edu	37	6	17292009	17292009	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:17292009C>T	uc003nbz.4	+	3	374	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	RBM24_uc003nby.4_3'UTR|RBM24_uc011dix.2_Missense_Mutation_p.P66S|RBM24_uc003nca.3_Missense_Mutation_p.P79S|RBM24_uc011diy.2_Silent_p.I37I|RBM24_uc011diz.2_Silent_p.I22I	NM_001143942	NP_001137413	Q9BX46	RBM24_HUMAN	Homo sapiens RNA binding motif protein 24 (RBM24), transcript variant 1, mRNA.	124					cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	p.A123T(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CTATGTCTATCCGCAGGCTTT	0.502000														140			144		0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882151	78882151	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:78882151G>A	uc002bdy.3	+	4	618	c.418G>A	c.(418-420)Gat>Aat	p.D140N		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	140					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TTTTAGTGCAGATGGACGTTT	0.373000														27			18		0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45739290	45739290	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr21:45739290C>T	uc002zek.3	+	13	1661	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	PFKL_uc002zel.3_Silent_p.L373L|PFKL_uc002zem.3_5'UTR|PFKL_uc002zen.3_5'UTR			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	373					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)		CCACCCAGCTCCGTGGTGGGT	0.592000														95			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074858	9074858	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:9074858C>T	uc002mkp.3	-	2	12792	c.12588G>A	c.(12586-12588)gaG>gaA	p.E4196E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4198	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						GGCCAGAGGTCTCAGACAAGA	0.498000														33			18		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104915214	104915214	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:104915214G>A	uc001pip.1	-	1	206	c.179C>T	c.(178-180)tCc>tTc	p.S60F	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_Missense_Mutation_p.S60F	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	60	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CGGAATAACGGAGTCAATCAA	0.448000														90			88		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755721	242755721	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:242755721G>A	uc002wcp.2	+	1	573	c.79G>A	c.(79-81)Gag>Aag	p.E27K	NEU4_uc010fzr.3_Missense_Mutation_p.E14K|NEU4_uc002wcm.3_Missense_Mutation_p.E14K|NEU4_uc002wco.2_Missense_Mutation_p.E14K|NEU4_uc002wcn.2_Missense_Mutation_p.E26K	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	14						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGTGCTCTTCGAGCGGGAGAG	0.692000														73			31		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538455	4538455	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:4538455G>A	uc002mau.3	-	1	552	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	181						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGCCCGGGGGGCAGTTTC	0.622000														188			65		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172480255	172480255	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:172480255C>T	uc003fii.2	+	7	853	c.715C>T	c.(715-717)Cca>Tca	p.P239S	ECT2_uc010hwv.1_Missense_Mutation_p.P270S|ECT2_uc003fih.2_Missense_Mutation_p.P238S|ECT2_uc003fij.1_Missense_Mutation_p.P239S|ECT2_uc003fik.1_Missense_Mutation_p.P239S|ECT2_uc003fil.1_Missense_Mutation_p.P270S	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	239	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TAAAGTTCCTCCATTTCAAGA	0.303000														22			20		0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51855780	51855781	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr18:51855780_51855781GG>AA	uc010xdt.2	-	4	415_416	c.415_416CC>TT	c.(415-417)cca>TTa	p.P139L		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	139	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATTTGAAGATGGAGGATATTCT	0.317000														58			86		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17669558	17669558	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:17669558C>T	uc003ncd.1	-	6	1180	c.980G>A	c.(979-981)aGa>aAa	p.R327K	NUP153_uc011dje.1_Missense_Mutation_p.R327K|NUP153_uc010jpl.1_Missense_Mutation_p.R327K	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	327					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.R327I(2)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGATGGAATTCTTTTTGCATC	0.279000														57			37		0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93264102	93264102	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:93264102C>A	uc001yaz.1	+	1	502	c.320C>A	c.(319-321)tCa>tAa	p.S107*		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	107					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CCTAGGCCTTCATCCCATTTT	0.458000			T	RET	papillary thyroid									34			28		1.16021e-09	1.17664e-09	1	1	0
KLHL24	54800	broad.mit.edu	37	3	183397024	183397024	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:183397024C>T	uc003flv.3	+	7	2048	c.1753C>T	c.(1753-1755)Cat>Tat	p.H585Y	KLHL24_uc003flw.3_Missense_Mutation_p.H585Y	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	585						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGTGTCCTATCATGGCTGTGT	0.453000														33			38		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683757	6683757	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:6683757G>A	uc010vtg.2	+	1	690	c.570G>A	c.(568-570)agG>agA	p.R190R		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	190										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GCTACATGAGGAATGAGAATG	0.493000														59			34		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442627	138442627	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:138442627C>T	uc003ihe.4	-	3	3351	c.2964G>A	c.(2962-2964)aaG>aaA	p.K988K	PCDH18_uc003ihf.4_Silent_p.K980K|PCDH18_uc011cgz.2_Silent_p.K199K|PCDH18_uc003ihg.4_Silent_p.K767K|PCDH18_uc011cha.2_Silent_p.K168K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	988	Interaction with DAB1 (By similarity).				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)					TTGGGGAGTCCTTTCCAAAGG	0.527000														69			7		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113238118	113238119	+	Missense_Mutation	DNP	CC	TT	TT	rs140221891		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:113238118_113238119CC>TT	uc001eck.3	+	10	1971_1972	c.1701_1702CC>TT	c.(1699-1704)ctccgg>ctTTgg	p.R568W	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.R568W|MOV10_uc001ecm.3_Missense_Mutation_p.R508W|MOV10_uc009wgj.1_Missense_Mutation_p.R508W	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	568					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTCAAAGGCTCCGGGTCCACCT	0.594000														46			11		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16259588	16259588	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:16259588C>T	uc001axk.1	+	10	7057	c.6853C>T	c.(6853-6855)Cca>Tca	p.P2285S	SPEN_uc010obp.1_Missense_Mutation_p.P2244S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2285	Interaction with MSX2 (By similarity).|RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCTAGGCCTCCAGTCAATGC	0.547000														94			63		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968181	4968181	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:4968181G>A	uc010qys.2	-	0	150	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCTTGATGATAAAAAGAA	0.438000														36			14		0	0	1	0	0
CMTM4	146223	broad.mit.edu	37	16	66657376	66657376	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:66657376G>A	uc002epz.3	-	2	575	c.393C>T	c.(391-393)ttC>ttT	p.F131F	CMTM4_uc002eqa.3_Silent_p.F131F|CMTM4_uc021tjv.1_5'Flank	NM_178818	NP_848933	Q8IZR5	CKLF4_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 4 (CMTM4), transcript variant 1, mRNA.	131	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		TAAAGAAAAGGAAAGCGCTGA	0.423000														30			10		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133494362	133494362	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:133494362G>A	uc003epu.2	+	19	3501	c.1773G>A	c.(1771-1773)gaG>gaA	p.E591E	TF_uc011blt.2_Silent_p.E464E|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.E591E	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	591	Transferrin-like 2.			E -> Q (in Ref. 12; AA sequence).	cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AACCTGTGGAGGAGTATGCGA	0.498000														215			25		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57059626	57059626	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:57059626C>T	uc021tiu.1	+	4	898	c.771C>T	c.(769-771)ttC>ttT	p.F257F	NLRC5_uc021tit.1_Silent_p.F257F|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.F62F|NLRC5_uc021tiw.1_Silent_p.F62F|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	257	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)				AGGCCCTGTTCCTTTTTGAAT	0.577000														102			48		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943535	72943535	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:72943535G>A	uc010wrr.2	+	5	1585	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K	OTOP3_uc010wrq.2_Missense_Mutation_p.E511K	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	529						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCACTCAAGGAGATCTCACT	0.607000														38			17		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666434	30666434	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:30666434G>A	uc002dyy.3	+	7	1401	c.1143G>A	c.(1141-1143)cgG>cgA	p.R381R	PRR14_uc002dyz.3_Silent_p.R226R|PRR14_uc002dza.3_Silent_p.R381R|PRR14_uc002dzb.1_Silent_p.R195R	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	381										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCTGTCTCCGGAAAGAGGTCT	0.662000														94			44		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447945	96447945	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:96447945G>A	uc001kjv.4	+	2	721	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	CYP2C19_uc001kjw.4_Missense_Mutation_p.R132Q|CYP2C19_uc009xus.1_5'UTR|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATGACTCTGCGGAATTTTGGG	0.498000														24			33		0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065806	57065806	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:57065806A>G	uc002qnj.3	+	7	1723	c.1652A>G	c.(1651-1653)cAt>cGt	p.H551R	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CTTACTGTACATCAAAGGATT	0.393000														59			11		0	0	1	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48699376	48699376	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:48699376G>A	uc002xva.3	-	3	418	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TMEM189-UBE2V1_uc002xvf.3_Missense_Mutation_p.R348W|TMEM189-UBE2V1_uc002xvb.3_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvc.3_Missense_Mutation_p.R81W|TMEM189-UBE2V1_uc002xvd.3_Missense_Mutation_p.R148W|TMEM189-UBE2V1_uc002xve.3_Missense_Mutation_p.R148W	NM_001032288	NP_001027459	A5PLL7	TM189_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1), transcript variant 4, mRNA.	0						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			ATTAGGCGCCGAAGCTCTTGC	0.443000														124			24		0	0	1	0	0
TMEM70	54968	broad.mit.edu	37	8	74888620	74888620	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:74888620C>T	uc003yab.3	+	0	244	c.104C>T	c.(103-105)tCt>tTt	p.S35F	TMEM70_uc022awa.1_Non-coding_Transcript|TMEM70_uc003yac.3_Missense_Mutation_p.S35F	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	35					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CCCCGGGCCTCTGTCTCCCGG	0.731000														10			32		0	0	1	0	0
FTSJD1	55783	broad.mit.edu	37	16	71318067	71318067	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:71318067G>A	uc021tkr.1	-	0	1757	c.1757C>T	c.(1756-1758)tCg>tTg	p.S586L	FTSJD1_uc010cga.3_Missense_Mutation_p.S586L|FTSJD1_uc002ezy.4_Missense_Mutation_p.S586L|FTSJD1_uc002ezz.4_Missense_Mutation_p.S586L	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	586						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACGGAGAGTCGAAAAGCCCAC	0.433000														26			15		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36369836	36369836	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:36369836G>A	uc002oce.3	+	14	1830	c.1692G>A	c.(1690-1692)gaG>gaA	p.E564E	APLP1_uc010xsz.2_Silent_p.E525E|APLP1_uc002ocf.3_Silent_p.E565E|APLP1_uc002ocg.3_Silent_p.E468E|APLP1_uc010xta.2_Silent_p.E558E	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	564					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTCATCGGAGATTCAGAGGG	0.582000														83			21		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013544	99013544	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:99013544G>A	uc010fij.3	+	7	2064	c.1923G>A	c.(1921-1923)ctG>ctA	p.L641L	CNGA3_uc002syt.3_Silent_p.L637L|CNGA3_uc002syu.3_Silent_p.L619L			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	637					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGTCCTCCCTGGACACCCTGC	0.597000														50			12		0	0	1	0	0
PAEP	5047	broad.mit.edu	37	9	138457324	138457324	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:138457324C>A	uc004cge.1	+	4	534	c.490C>A	c.(490-492)Cac>Aac	p.H164N	PAEP_uc010nba.1_Missense_Mutation_p.H127N|PAEP_uc004cgd.1_Missense_Mutation_p.H164N|PAEP_uc011mdp.1_Missense_Mutation_p.H142N|PAEP_uc004cgg.1_Missense_Mutation_p.H164N|PAEP_uc004cgf.1_Missense_Mutation_p.H164N	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.	164					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCTGCCCAGGCACCTATGGTA	0.592000														51			14		7.93312e-07	8.01144e-07	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50186633	50186633	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:50186633G>A	uc009zlk.2	-	10	3679	c.3477C>T	c.(3475-3477)ccC>ccT	p.P1159P	NCKAP5L_uc001rvc.3_Silent_p.P363P|NCKAP5L_uc001rvb.2_Silent_p.P752P	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	1155	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCGAGCTGGGGGTACCCCAG	0.672000														26			5		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810371	124810371	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:124810371C>T	uc003ehw.4	-	11	1990	c.1920G>A	c.(1918-1920)gtG>gtA	p.V640V	SLC12A8_uc003ehv.4_Silent_p.V611V|SLC12A8_uc003eht.4_Silent_p.V412V|SLC12A8_uc010hry.3_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	611					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CCCACTGTATCACAAACATGA	0.483000														76			6		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:7578400G>A	uc002gim.2	-	4	724	c.530C>T	c.(529-531)cCc>cTc	p.P177L	TP53_uc002gig.1_Missense_Mutation_p.P177L|TP53_uc002gih.3_Missense_Mutation_p.P177L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P45L|TP53_uc010cnf.1_Missense_Mutation_p.P45L|TP53_uc002gii.1_Missense_Mutation_p.P45L|TP53_uc010cni.1_Missense_Mutation_p.P177L|TP53_uc010cnh.1_Missense_Mutation_p.P177L|TP53_uc002gij.2_Missense_Mutation_p.P177L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P84L|TP53_uc002gio.2_Missense_Mutation_p.P45L|TP53_uc010vug.2_Missense_Mutation_p.P138L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(112)|p.C176Y(59)|p.P177L(34)|p.P177R(34)|p.C176S(19)|p.P177_C182delPHHERC(16)|p.C176R(12)|p.C176W(11)|p.P177P(10)|p.0?(8)|p.C176*(8)|p.P177S(8)|p.C176fs*71(7)|p.C176_R181delCPHHER(6)|p.P177H(6)|p.R175_E180delRCPHHE(6)|p.C176G(4)|p.P177fs*3(4)|p.R174fs*24(3)|p.C176fs*5(3)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.P177_H179delPHH(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.P177fs*69(2)|p.R175_H178>X(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.P177I(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.P177fs*4(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.P177_C182del(1)|p.C176fs*6(1)|p.C176del(1)|p.P45R(1)|p.R81fs*24(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCATGGTGGGGGCAGCGCCT	0.647000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				60			8		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57515255	57515255	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:57515255C>T	uc004dvc.3	+	10	1638	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	497						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAAAGGACTCCCTTTAGGCAT	0.507000										HNSCC(52;0.14)				19			13		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	327884	327884	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:327884G>A	uc002lok.1	-	3	358	c.349C>T	c.(349-351)Cca>Tca	p.P117S		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCATGTCTGGGAGGTTCGGG	0.617000														25			12		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101472	168101472	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:168101472G>A	uc002udx.3	+	8	3659	c.3570G>A	c.(3568-3570)atG>atA	p.M1190I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.M1015I|XIRP2_uc010fpq.3_Missense_Mutation_p.M968I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1015					actin cytoskeleton organization	cell junction	actin binding			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						CTGTTGAAATGGATATACAAG	0.368000														38			34		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349474	65349474	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:65349474G>C	uc001oeo.4	+	8	1596	c.1331G>C	c.(1330-1332)gGg>gCg	p.G444A		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	444										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAGGCGACAGGGGTGATGCCT	0.607000														22			26		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904058	5904058	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:5904058G>A	uc002wmg.3	+	3	1574	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	CHGB_uc010zqz.2_Missense_Mutation_p.G106E	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	423						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGAGGCAGGGGAGGGGAGCCA	0.532000														127			52		0	0	1	0	0
CCNJ	54619	broad.mit.edu	37	10	97810058	97810058	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:97810058C>T	uc010qoq.2	+	2	474	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Missense_Mutation_p.L39F|CCNJ_uc001kln.3_Missense_Mutation_p.L39F	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	39	Cyclin N-terminal.					nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TCAGTTAAGTCTCAGACGGTA	0.468000														27			21		0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109545722	109545722	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:109545722G>A	uc010fjn.3	-	4	835	c.288C>T	c.(286-288)ttC>ttT	p.F96F	EDAR_uc010yws.2_Silent_p.F96F|EDAR_uc002teq.4_Silent_p.F96F	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	96					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TGGCCCGGAAGAAGCCCTCAC	0.612000														49			15		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134154611	134154612	+	Missense_Mutation	DNP	CC	TT	TT	rs138063978	byFrequency	TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:134154611_134154612CC>TT	uc003kzw.3	+	20	3059_3060	c.2891_2892CC>TT	c.(2890-2892)gcc>gTT	p.A964V		NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	964					RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TACTCTGAAGCCGCAATTACAA	0.411000														19			14		0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201798673	201798673	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:201798673C>T	uc002uwr.3	-	9	1004	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	245					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTGTGAGCTTCAAAATATTCT	0.343000														44			12		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640452	57640452	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:57640452A>G	uc002qny.3	+	3	765	c.409A>G	c.(409-411)Att>Gtt	p.I137V	USP29_uc021vci.1_Missense_Mutation_p.I137V	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	137					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTTTACAGCATTTGTAACAA	0.373000														49			15		0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344418	53344418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:53344418G>A	uc002qaf.3	-	3	1280	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	ZNF468_uc002qae.3_Missense_Mutation_p.H324Y|ZNF468_uc021uzb.1_Missense_Mutation_p.H324Y	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TCTCCAGTATGAAGTCTATGA	0.388000														77			47		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90425381	90425381	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:90425381G>A	uc003pnn.1	-	44	6967	c.6851C>T	c.(6850-6852)cCc>cTc	p.P2284L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2284					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTGAAATTGGGATTTGGTGT	0.418000														103			18		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541612	133541612	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:133541612C>T	uc002ttp.3	-	13	3146	c.2772G>A	c.(2770-2772)gtG>gtA	p.V924V	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	924							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGGGATTTCACCCCTGCCT	0.622000														51			16		0	0	1	0	0
ARF5	381	broad.mit.edu	37	7	127229594	127229594	+	Silent	SNP	G	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:127229594G>T	uc003vmb.2	+	2	351	c.204G>T	c.(202-204)gtG>gtT	p.V68V	ARF5_uc010llb.2_Silent_p.V68V|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA.	68					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TCTGGGACGTGGGAGGCCAGG	0.468000														79			46		4.06502e-11	4.152e-11	1	1	0
LILRB2	10288	broad.mit.edu	37	19	54783386	54783386	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:54783386C>T	uc002qfb.3	-	4	738	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.E158K|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.E158K|LILRB2_uc010yet.2_Missense_Mutation_p.E42K|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	158	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.E158*(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTTCTCCTTCCTTACACAGA	0.622000														115			50		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247712498	247712498	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:247712498G>A	uc001idf.3	+	0	152	c.5G>A	c.(4-6)gGa>gAa	p.G2E	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	2										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	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;0.0241)			GAAAAGATGGGAAATTATCTC	0.483000														96			17		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849972	73849972	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:73849972C>T	uc003xzb.3	+	2	2970	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	794					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGAAACTGTTCCCTTTCTCTT	0.557000														81			16		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653921	159653921	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:159653921G>A	uc010kjv.3	+	10	2577	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	FNDC1_uc010kjw.1_Missense_Mutation_p.D678N	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	793						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGTGACGGCGATAGGGAAGA	0.632000														22			3		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074848	9074848	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:9074848G>A	uc002mkp.3	-	2	12802	c.12598C>T	c.(12598-12600)Ctg>Ttg	p.L4200L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4202	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G4199D(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						GTCTTCCCCAGGCCAGAGGTC	0.498000														30			15		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63852146	63852146	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:63852146C>T	uc001jlt.2	+	9	3380	c.2924C>T	c.(2923-2925)tCa>tTa	p.S975L	ARID5B_uc001jlu.2_Missense_Mutation_p.S732L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	975					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CTTTCAAGATCAGGAAAACCT	0.522000														41			47		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048610	238048610	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:238048610G>A	uc001hym.3	-	8	1453	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	389	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCCAATGTAGGGGCAGCTAGA	0.512000														51			5		0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43618376	43618376	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:43618376G>A	uc003cmv.3	-	5	1141	c.970C>T	c.(970-972)Ctc>Ttc	p.L324F	ANO10_uc011azs.2_Missense_Mutation_p.L324F|ANO10_uc003cmw.3_Missense_Mutation_p.L258F|ANO10_uc010hil.3_Intron|ANO10_uc011azt.2_Missense_Mutation_p.L213F	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	324					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TAGAGGCAGAGGCACACGAAT	0.507000														64			7		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34189815	34189815	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:34189815C>T	uc001bxm.1	-	18	3160	c.2983G>A	c.(2983-2985)Gaa>Aaa	p.E995K	CSMD2_uc001bxn.1_Missense_Mutation_p.E955K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	955	CUB 6.					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)				TGAGATGTTTCGATAATCCAG	0.527000														57			16		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558506	129558506	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:129558506C>T	uc009zyl.1	-	8	3542	c.3214G>A	c.(3214-3216)Gac>Aac	p.D1072N	TMEM132D_uc001uia.2_Missense_Mutation_p.D610N	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1072						integral to membrane		p.D1072G(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CACTTAATGTCATCCTCGCTA	0.498000														103			36		0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63957983	63957983	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:63957983G>A	uc001jlw.3	-	11	1611	c.1514C>T	c.(1513-1515)cCc>cTc	p.P505L	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Missense_Mutation_p.P159L	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	505					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AGGAGGAAGGGGAGCTTGTCT	0.398000														61			64		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114146	147114146	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:147114146C>T	uc011bno.2	-	2	517	c.331G>A	c.(331-333)Gga>Aga	p.G111R	ZIC4_uc003ewc.2_5'UTR|ZIC4_uc021xff.1_Missense_Mutation_p.G99R|ZIC4_uc003ewd.2_Missense_Mutation_p.G61R|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	61						nucleus	DNA binding|zinc ion binding	p.H111Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCAGGAGTCCATTCAAAGGA	0.736000														38			9		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281538	4281538	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:4281538G>A	uc003smx.3	+	42	6383	c.6244G>A	c.(6244-6246)Ggg>Agg	p.G2082R	SDK1_uc010kso.3_Missense_Mutation_p.G1338R|SDK1_uc003smy.3_Missense_Mutation_p.G569R|SDK1_uc003smz.3_Missense_Mutation_p.G142R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2082					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAAGAAGAACGGGACCAGGTA	0.642000														42			20		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164856	139164856	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:139164856C>T	uc003yuy.3	-	12	2033	c.1862G>A	c.(1861-1863)gGa>gAa	p.G621E	FAM135B_uc003yux.3_Missense_Mutation_p.G522E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G183E|FAM135B_uc003yvb.3_Missense_Mutation_p.G183E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	621										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGATCTATTCCCTTTCCTAG	0.473000										HNSCC(54;0.14)				122			16		0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71114747	71114747	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:71114747G>A	uc003hfe.4	+	3	178	c.120G>A	c.(118-120)caG>caA	p.Q40Q		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	40						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CATTCTATCAGAAAACAGCTC	0.318000														88			20		0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149924334	149924335	+	Nonsense_Mutation	DNP	TC	GT	GT			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:149924334_149924335TC>GT	uc004feh.1	+	14	1989_1990	c.1854_1855TC>GT	c.(1852-1857)cctcag>ccGTag	p.Q619*	MTMR1_uc011mya.1_Nonsense_Mutation_p.Q517*|MTMR1_uc004fei.3_Nonsense_Mutation_p.Q611*|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	611						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGAGACCTCAGGTATCTTT	0.337000														16			23		0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51507069	51507069	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:51507069G>A	uc002pux.1	-	3	581	c.494C>T	c.(493-495)gCc>gTc	p.A165V	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.A136V|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK8_uc002puv.1_Non-coding_Transcript	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	165	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCTGATGTTGGCACACTGCAG	0.577000														32			34		0	0	1	0	0
BC128131	0	broad.mit.edu	37	19	23159466	23159466	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:23159466C>T	uc002nqz.1	-	1	507	c.481G>A	c.(481-483)Gag>Aag	p.E161K	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		CAGGGTTTCTCTCCAGTATGA	0.358000														33			12		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770712	37770712	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:37770712G>A	uc003asq.4	-	2	1649	c.863C>T	c.(862-864)tCg>tTg	p.S288L	ELFN2_uc021wph.1_Missense_Mutation_p.S288L	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	288						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CGTGGTGGACGAGGCCGGCGG	0.662000														177			47		0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53392612	53392612	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:53392612A>T	uc002iug.1	+	2	1001	c.476A>T	c.(475-477)aAt>aTt	p.N159I	HLF_uc010dce.1_Missense_Mutation_p.N74I|HLF_uc002iuh.2_Missense_Mutation_p.N74I|HLF_uc010wni.1_Missense_Mutation_p.N106I	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	159	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						GCAAACCGCAATACACCAAGT	0.517000			T	TCF3	ALL									37			35		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240811	58240811	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr13:58240811G>A	uc001vhq.1	+	2	3533	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	PCDH17_uc010aec.1_Missense_Mutation_p.D880N|PCDH17_uc001vhr.1_5'UTR	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	881					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CACGTTTAAGGACCCAGAAAG	0.443000														17			25		0	0	1	0	0
CEP57L1	285753	broad.mit.edu	37	6	109480270	109480270	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:109480270T>A	uc010kdk.3	+	9	1364	c.787T>A	c.(787-789)Tca>Aca	p.S263T	CEP57L1_uc003psx.4_Missense_Mutation_p.S263T|CEP57L1_uc010kdl.3_Missense_Mutation_p.S263T|CEP57L1_uc003psy.4_Missense_Mutation_p.S263T	NM_001083535	NP_776191	Q8IYX8	CE57L_HUMAN	Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA.	263						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GCAAATTTGTTCAAAGTTTGG	0.328000														35			29		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294260	128294260	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:128294260G>A	uc003qbk.3	-	28	4540	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	PTPRK_uc010kfc.3_Silent_p.I1398I|PTPRK_uc003qbj.3_Silent_p.I1392I|PTPRK_uc011ebu.2_Silent_p.I1414I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1391	Tyrosine-protein phosphatase 2.				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		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)		TTTCAACAACGATGCCTATAG	0.478000														74			40		0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19613204	19613204	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:19613204C>T	uc010xqt.2	+	10	1952	c.1640C>T	c.(1639-1641)cCg>cTg	p.P547L	GATAD2A_uc010xqu.2_Missense_Mutation_p.P176L|GATAD2A_uc010xqv.2_Missense_Mutation_p.P567L|GATAD2A_uc010xqw.2_Missense_Mutation_p.P350L	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	547					DNA methylation|negative regulation of transcription, DNA-dependent	NuRD complex|nuclear speck	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						ACGTTCAGTCCGTCACCCAAA	0.667000														142			16		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3652869	3652869	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:3652869G>A	uc002wit.3	-	13	1596	c.1509C>T	c.(1507-1509)gaC>gaT	p.D503D	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.D503D|ADAM33_uc002wis.3_Silent_p.D25D|ADAM33_uc002wiu.3_Silent_p.D503D|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	503	Cys-rich.|Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AGGGTGAGCCGTCCAGTAGGT	0.662000														142			4		0	0	1	0	0
TMEM237	65062	broad.mit.edu	37	2	202492842	202492842	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:202492842G>A	uc021vvg.1	-	9	1001	c.900C>T	c.(898-900)atC>atT	p.I300I	TMEM237_uc021vvd.1_Silent_p.I95I|TMEM237_uc021vve.1_Silent_p.I292I|TMEM237_uc021vvf.1_Silent_p.I95I|TMEM237_uc010zho.1_Silent_p.I95I	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.	324						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						AAAAATTTCGGATTGCTACTG	0.323000														13			6		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123725050	123725050	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:123725050G>A	uc004bkv.3	-	35	4433	c.4403C>T	c.(4402-4404)cCc>cTc	p.P1468L		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1468					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ATCACTGGAGGGAATCTGTTT	0.343000														92			49		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1551673	1551673	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:1551673C>T	uc002cly.3	+	10	1662	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	457						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCACGTCCCTCGTTCCAGCCA	0.607000														64			28		0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18616669	18616669	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:18616669C>T	uc004cym.3	+	10	1166	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	CDKL5_uc004cyn.3_Missense_Mutation_p.R305C|CDKL5_uc022btn.1_Missense_Mutation_p.R296C	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	305					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACTTCTGGATCGTTCTCCTTC	0.388000														50			15		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119858427	119858427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:119858427C>T	uc004bjt.2	-	3	1120	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E	ASTN2_uc022bml.1_Missense_Mutation_p.G40E|ASTN2_uc022bmm.1_Missense_Mutation_p.G40E	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	391						integral to membrane		p.G339E(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						AAAGCTGATTCCTCCTGTGAG	0.557000														18			28		0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157188163	157188163	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:157188163C>T	uc003fbj.2	-	2	713	c.294G>A	c.(292-294)ggG>ggA	p.G98G	VEPH1_uc003fbk.2_Silent_p.G98G|VEPH1_uc010hvu.2_Silent_p.G98G|VEPH1_uc021xgk.1_Silent_p.G98G|VEPH1_uc003fbn.3_Silent_p.G98G|VEPH1_uc003fbm.3_Silent_p.G98G	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	98						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTCGTCTTTCCCAAAGGGTC	0.458000														23			42		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177100651	177100651	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:177100651C>T	uc003iuj.3	+	30	4193	c.3890C>T	c.(3889-3891)tCc>tTc	p.S1297F	WDR17_uc003ium.4_Missense_Mutation_p.S1258F|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.S508F	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1297										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCTGCTATCTCCTTGAATGAT	0.398000														31			30		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145040890	145040890	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:145040890C>T	uc003ijo.4	-	2	297	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	GYPA_uc003ijn.2_Missense_Mutation_p.E61K|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.E28K|GYPA_uc003ijp.4_Intron|GYPA_uc010ioq.3_Missense_Mutation_p.E61K|GYPA_uc010ior.3_Intron|GYPA_uc010ios.1_Intron	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	61					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TCTGAAACTTCATGAGCTCTA	0.418000														29			31		0	0	1	0	0
FAM125A	93343	broad.mit.edu	37	19	17533153	17533153	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:17533153C>T	uc002ngo.1	+	3	332	c.299C>T	c.(298-300)tCc>tTc	p.S100F	FAM125A_uc002ngq.1_5'UTR	NM_138401	NP_612410	Q96EY5	F125A_HUMAN	Homo sapiens family with sequence similarity 125, member A (FAM125A), mRNA.	100	MABP.				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	8						GCCTCTGTGTCCAAGAAGAAA	0.607000														50			32		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100257910	100257910	+	RNA	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:100257910C>T	uc021xqi.1	-	8		c.1212G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGTATTGTTTCAAAACGTCAG	0.418000														20			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070509	9070509	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:9070509G>A	uc002mkp.3	-	2	17141	c.16937C>T	c.(16936-16938)tCc>tTc	p.S5646F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5648	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						TGATGTGGAGGAAACAGGAGA	0.517000														27			7		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53785796	53785796	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:53785796C>T	uc003dgv.4	+	27	3700	c.3537C>T	c.(3535-3537)gcC>gcT	p.A1179A	CACNA1D_uc003dgu.4_Silent_p.A1199A|CACNA1D_uc003dgy.4_Silent_p.A1179A|CACNA1D_uc003dgw.4_Silent_p.A846A|CACNA1D_uc003dgx.1_Silent_p.A327A	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1179					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTGAATACGCCTTGAAAGCAC	0.512000														148			42		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6065781	6065781	+	Missense_Mutation	SNP	C	T	T	rs151300234		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:6065781C>T	uc002wmr.3	-	11	2314	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	FERMT1_uc002wmq.3_Missense_Mutation_p.E62K|FERMT1_uc010gbt.3_Missense_Mutation_p.E252K	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	509	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCCATGTTTTCGAGACTGGAA	0.448000														68			44		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36917621	36917621	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:36917621C>T	uc022abv.1	-	18	2526	c.1816G>A	c.(1816-1818)Gac>Aac	p.D606N	ELMO1_uc003tfi.2_Missense_Mutation_p.D126N|ELMO1_uc003tfj.2_Missense_Mutation_p.D126N|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Missense_Mutation_p.D510N|ELMO1_uc003tfk.2_Missense_Mutation_p.D606N|ELMO1_uc010kxg.2_Missense_Mutation_p.D606N	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	606	PH.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTACGTTTGTCCTGCAAGGAA	0.478000														17			19		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191941042	191941042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:191941042G>A	uc002usm.2	-	3	598	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	STAT4_uc002usn.2_Missense_Mutation_p.H95Y|STAT4_uc002uso.2_Missense_Mutation_p.H95Y|STAT4_uc002usp.4_Missense_Mutation_p.H95Y	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	95					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGATTTCCATGAAATTTTCCC	0.328000														31			29		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69656215	69656215	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:69656215C>T	uc001sut.4	+	8	1642	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	CPSF6_uc001suu.4_Missense_Mutation_p.S548F|CPSF6_uc010stk.2_Missense_Mutation_p.S143F	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	511	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CGTCATAAATCCCGTAGTAGA	0.473000														65			11		0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883268	4883268	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:4883268C>T	uc010cku.2	-	8	1830	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E	CAMTA2_uc002gag.2_Missense_Mutation_p.G449E|CAMTA2_uc002gah.2_Missense_Mutation_p.G450E|CAMTA2_uc002gai.2_Missense_Mutation_p.G452E|CAMTA2_uc010ckv.1_Missense_Mutation_p.G97E|CAMTA2_uc010vsu.2_Missense_Mutation_p.G263E	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	450					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAGCTCCTCCCCACTGTCATC	0.642000														90			58		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736437	158736437	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:158736437G>A	uc010piq.2	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CCAAGATGATGAATTCTGCTA	0.463000														69			12		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69552686	69552686	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:69552686C>T	uc010lyz.3	+	7	1472	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	C8orf34_uc003xyb.3_Missense_Mutation_p.P283L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	308					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAAGGCCGTCCTACTTACCCT	0.413000														67			7		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217804	45217804	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:45217804G>A	uc002xsf.2	-	6	1051	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	SLC13A3_uc010ghn.2_Silent_p.P306P|SLC13A3_uc010zxx.2_Silent_p.P239P|SLC13A3_uc010zxw.2_Silent_p.P287P|SLC13A3_uc002xsg.2_Silent_p.P290P|SLC13A3_uc010gho.2_Silent_p.P290P	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	337						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CATACTTGATGGGCCCCAGGT	0.527000														94			33		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94716613	94716613	+	Splice_Site	SNP	A	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:94716613A>G	uc001ycs.1	+	15	1871	c.1717_splice	c.e15+1	p.Q573_splice		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	573						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						AATTAATTGAACGTAAGTAAT	0.318000														17			8		0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100204230	100204230	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:100204230C>A	uc003uvo.3	+	5	1115	c.917C>A	c.(916-918)aCa>aAa	p.T306K	LOC100129845_uc011kjy.2_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	306					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCGGAGAAAACAGAGGAATCT	0.597000														43			21		1.22574e-08	1.23959e-08	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247751946	247751946	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:247751946C>T	uc010pyy.2	+	0	285	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I95N(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			TGAAAACTATCGCCTATGGTG	0.527000														156			23		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38885135	38885135	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:38885135G>A	uc021yzh.1	+	68	10370	c.10261G>A	c.(10261-10263)Gat>Aat	p.D3421N	DNAH8_uc003ooe.2_Missense_Mutation_p.D3204N|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.P3421P(1)		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						TGTTACTATGGATCCAGAAAA	0.398000														91			27		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394337	164394337	+	Missense_Mutation	SNP	C	T	T	rs149496837		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:164394337C>T	uc003iqp.4	-	0	711	c.550G>A	c.(550-552)Gac>Aac	p.D184N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	184						cytoplasm	metal ion binding|transketolase activity	p.F183F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGGTTCACGTCGAAGACCGCC	0.522000														71			10		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812795	141812796	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:141812795_141812796CC>TT	uc002tvj.1	-	9	2413_2414	c.1441_1442GG>AA	c.(1441-1443)gga>AAa	p.G481K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	481					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)		CCCTGGCATTCCATATGGATCG	0.446000										TSP Lung(27;0.18)				34			21		0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245710	202245710	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:202245710G>A	uc002uyb.4	-	15	2747	c.2301C>T	c.(2299-2301)ctC>ctT	p.L767L		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	767				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GGGATTTAGGGAGAGGCTGGA	0.517000														126			91		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158502225	158502225	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:158502225C>T	uc003qqx.2	+	18	2758	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	SYNJ2_uc003qqw.2_Silent_p.F884F|SYNJ2_uc003qqy.2_Silent_p.F647F|SYNJ2_uc003qqz.2_Silent_p.F501F|SYNJ2_uc003qra.2_Silent_p.F227F	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	884							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGTCCTCCTTCCAGGGCCCCC	0.532000														57			37		0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55396759	55396759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:55396759G>A	uc002qhr.1	+	2	380	c.183G>A	c.(181-183)atG>atA	p.M61I	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.M61I|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.M34I|FCAR_uc010esi.1_Missense_Mutation_p.M34I|FCAR_uc002qhu.1_Missense_Mutation_p.M61I|FCAR_uc002qhv.1_Missense_Mutation_p.M61I|FCAR_uc002qhw.1_Missense_Mutation_p.M49I|FCAR_uc002qhx.1_Missense_Mutation_p.M49I|FCAR_uc002qhy.1_Missense_Mutation_p.M49I|FCAR_uc002qhz.1_Missense_Mutation_p.M49I|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	61	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.M61I(3)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCCAGCTGATGATCATAAAAA	0.468000														43			22		0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108866315	108866315	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:108866315C>T	uc003hyp.3	+	1	763	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CYP2U1_uc011cfi.2_Missense_Mutation_p.A18V	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	227					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A227A(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438000														97			19		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7793966	7793966	+	Silent	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:7793966C>A	uc002gjd.2	+	2	470	c.468C>A	c.(466-468)acC>acA	p.T156T	CHD3_uc002gje.2_Silent_p.T97T|CHD3_uc002gjf.2_Silent_p.T97T|CHD3_uc002gjg.1_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	97					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AATATGGAACCGGACCGGGTC	0.493000														8			8		1.12685e-05	1.13478e-05	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40368658	40368658	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:40368658G>A	uc002omp.4	-	27	12698	c.12690C>T	c.(12688-12690)ttC>ttT	p.F4230F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4230	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCATTAGGGAAGACCTGGT	0.642000														152			31		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82188651	82188651	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:82188651C>T	uc004ald.3	+	1	921	c.72C>T	c.(70-72)tcC>tcT	p.S24S	TLE4_uc004alc.3_Silent_p.S31S|TLE4_uc010mpr.3_5'UTR|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.S24S|TLE4_uc010mps.3_Silent_p.S24S|TLE4_uc004alf.3_5'Flank	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTTCCGAATCCTGTGATCGGA	0.413000														8			12		0	0	1	0	0
PACRGL	133015	broad.mit.edu	37	4	20728952	20728952	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:20728952C>T	uc010iek.3	+	8	1126	c.735C>T	c.(733-735)tcC>tcT	p.S245S	PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Silent_p.S218S|PACRGL_uc011bxm.2_3'UTR|PACRGL_uc003gqa.3_Silent_p.S120S|PACRGL_uc011bxn.2_Silent_p.S120S	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	245							binding	p.S218S(1)		endometrium(2)|lung(7)|prostate(1)	10						CATACTGCTCCATATGCTGTT	0.368000														57			8		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531653	92531653	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:92531653C>T	uc001pdj.4	+	8	5491	c.5474C>T	c.(5473-5475)aCg>aTg	p.T1825M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1825	Cadherin 16.				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)				AAGTTTTTCACGGTGGACTCC	0.473000										TCGA Ovarian(4;0.039)				9			15		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177905472	177905472	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:177905472G>A	uc001glj.1	-	24	3401	c.2535C>T	c.(2533-2535)tcC>tcT	p.S845S	SEC16B_uc001glk.1_Silent_p.S521S|SEC16B_uc009wwy.1_Silent_p.S399S|SEC16B_uc001glh.1_Silent_p.S503S|SEC16B_uc001gli.1_Silent_p.S844S|SEC16B_uc009wwz.1_Silent_p.S503S	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	844			Q -> H (in dbSNP:rs7522194).		protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAGGAGGCTGGGAAGTTTCTT	0.458000														17			3		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133474253	133474253	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:133474253G>A	uc003epu.2	+	9	2277	c.549G>A	c.(547-549)ggG>ggA	p.G183G	TF_uc011bls.1_Silent_p.G183G|TF_uc011blt.2_Silent_p.G56G|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.G183G	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	183	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GTGCGGATGGGACGGACTTCC	0.572000														37			45		0	0	1	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293176	27293176	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:27293176C>T	uc010jqt.3	+	0	637	c.115C>T	c.(115-117)Caa>Taa	p.Q39*		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		AATGATATTTCAAAGTGCCAT	0.368000														109			48		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994511	144994511	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:144994511G>A	uc003zaf.1	-	31	10059	c.9889C>T	c.(9889-9891)Cga>Tga	p.R3297*	PLEC_uc003zab.1_Nonsense_Mutation_p.R3160*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3164*|PLEC_uc003zad.2_Nonsense_Mutation_p.R3160*|PLEC_uc003zae.1_Nonsense_Mutation_p.R3128*|PLEC_uc003zag.1_Nonsense_Mutation_p.R3138*|PLEC_uc003zah.2_Nonsense_Mutation_p.R3146*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R3187*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3297	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGCAGCCTCGGGCGCAGGCG	0.721000														9			23		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240387	3240387	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:3240387C>T	uc004crg.4	-	4	3496	c.3339G>A	c.(3337-3339)gcG>gcA	p.A1113A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1113						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)				CTGTGGTTTCCGCAGGCTTCT	0.493000														27			29		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382192	152382192	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:152382192C>T	uc001ezx.2	-	2	1440	c.1366G>A	c.(1366-1368)Gac>Aac	p.D456N		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	456					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGCCCTGGTCCAGCCTGAGG	0.557000														43			90		0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38152539	38152539	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:38152539C>T	uc002htn.1	+	9	1588	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Missense_Mutation_p.A376V	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	475					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCCCAGCTAGCCTTCCACCAG	0.557000														165			103		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41545984	41545984	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:41545984C>T	uc003azl.4	+	13	2994	c.2599C>T	c.(2599-2601)Cct>Tct	p.P867S		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	867					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCTACACCTCCTGCCATGCC	0.592000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					88			17		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104133441	104133441	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:104133441C>T	uc010mtd.3	-	1	355	c.246G>A	c.(244-246)ctG>ctA	p.L82L	BAAT_uc004bbd.4_Silent_p.L82L	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	82					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TTTCAGGTTTCAGAGACCAGA	0.423000														31			90		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400535	89400535	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:89400535G>A	uc010upo.1	+	11	5093	c.4719G>A	c.(4717-4719)agG>agA	p.R1573R	ACAN_uc010upp.1_Silent_p.R1573R|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1573					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)			CTTCTGGAAGGGAGGGTCTAG	0.542000														41			26		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131353841	131353841	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:131353841C>T	uc004bvl.4	+	21	3234	c.3092C>T	c.(3091-3093)tCc>tTc	p.S1031F	SPTAN1_uc011mbg.2_Missense_Mutation_p.S1031F|SPTAN1_uc011mbh.2_Missense_Mutation_p.S1043F|SPTAN1_uc004bvm.4_Missense_Mutation_p.S1031F|SPTAN1_uc004bvn.4_Missense_Mutation_p.S1031F	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1031					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAGTCAGCCTCCCGGGAGAAT	0.562000														125			25		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50916399	50916399	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:50916399G>A	uc001zyt.4	-	11	1686	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	TRPM7_uc010bew.2_Silent_p.F468F|TRPM7_uc001zyu.3_Silent_p.F26F	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	468					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GAATGGTAAGGAATTTATGCA	0.338000														19			13		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123301320	123301320	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:123301320G>A	uc003ieo.3	+	2	328	c.96G>A	c.(94-96)acG>acA	p.T32T	ADAD1_uc003iep.3_Silent_p.T32T|ADAD1_uc003ieq.3_Silent_p.T14T	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	32					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.K31K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGACAAAGACGATAACTACAC	0.468000														45			27		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196682902	196682902	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:196682902G>A	uc001gtj.4	+	9	1614	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G	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.	458	Sushi 8.				complement activation, alternative pathway	extracellular space				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						TTGAGAATGGGTTTATTTCTG	0.294000														35			4		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174110	51174110	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:51174110G>A	uc021tif.1	-	1	2054	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	SALL1_uc021tid.1_Missense_Mutation_p.P578S|SALL1_uc021tie.1_Missense_Mutation_p.P675S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	675					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	p.P577H(1)|p.P675S(1)		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)			CCCCCAAAAGGAAACTTGGCC	0.582000														104			16		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56207499	56207499	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:56207499G>A	uc021wzo.1	-	2	1264	c.1124C>T	c.(1123-1125)gCt>gTt	p.A375V	ERC2_uc003dhr.1_Missense_Mutation_p.A375V	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	375						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)		AGTCTGGAGAGCCTTCGTCTT	0.473000														62			13		0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159344483	159344483	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:159344483G>A	uc003lxt.1	+	0	744	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	191					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	GGCACCCAACGATGACAAGGA	0.592000														53			15		0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300902	110300902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:110300902C>T	uc011eav.2	+	2	876	c.632C>T	c.(631-633)tCc>tTc	p.S211F	GPR6_uc011eaw.2_Missense_Mutation_p.S196F|GPR6_uc003ptu.3_Missense_Mutation_p.S196F|GPR6_uc021zds.1_Missense_Mutation_p.S196F	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	196						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGGACCGTGTCCCTAGGCCTG	0.697000														30			8		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161029125	161029125	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:161029125G>A	uc002ubh.2	-	5	891	c.876C>T	c.(874-876)ctC>ctT	p.L292L	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Silent_p.L292L|ITGB6_uc010zcq.1_Silent_p.L250L|ITGB6_uc010fov.1_Silent_p.L292L	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	292	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	p.G291W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CCAAGTGACAGAGCCCGTCAT	0.468000														162			17		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73800220	73800220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:73800220C>T	uc002sje.1	+	15	11324	c.11213C>T	c.(11212-11214)cCc>cTc	p.P3738L	ALMS1_uc002sjf.1_Missense_Mutation_p.P3696L|ALMS1_uc002sjg.3_Missense_Mutation_p.P3126L|ALMS1_uc002sjh.1_Missense_Mutation_p.P3126L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3738					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GATTGTCGGCCCTCAGAGGAG	0.378000														40			28		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28713961	28713961	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr18:28713961G>A	uc002kwn.3	-	12	2271	c.2009C>T	c.(2008-2010)cCa>cTa	p.P670L	DSC1_uc002kwm.3_Missense_Mutation_p.P670L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	670	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACACTCAGATGGAGTTGAACA	0.363000														49			56		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124627	103124627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:103124627C>T	uc002tbz.4	+	4	1745	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	430					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGTGGTGTTCGAGGAGCTGG	0.413000														74			20		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112665	248112665	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:248112665G>A	uc001idt.1	+	0	506	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTTATTGCCGATCCAGGGCC	0.478000														48			56		0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71114944	71114944	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:71114944C>T	uc003hfe.4	+	3	375	c.317C>T	c.(316-318)aCt>aTt	p.T106I		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	106						extracellular region	protein binding	p.P105P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CACCCACCCACTGTGGTACGT	0.463000														20			37		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962701	69962701	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:69962701C>T	uc003heg.4	+	0	509	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	UGT2B7_uc010ihq.3_Missense_Mutation_p.P155S	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	155					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.F154Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTATTTTTCCCTGTAGTGA	0.358000														51			63		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045637	47045637	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:47045637C>T	uc003cqp.3	+	36	6131	c.5952C>T	c.(5950-5952)cgC>cgT	p.R1984R	NBEAL2_uc010hjm.2_Silent_p.R1361R|NBEAL2_uc010hjn.2_Silent_p.R380R	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1984							binding	p.L1984L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCAACCTGCGCCGTTCAGCAC	0.587000														158			207		0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023388	31023388	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:31023388C>T	uc021wbw.1	+	12	3305	c.2873C>T	c.(2872-2874)tCa>tTa	p.S958L	ASXL1_uc002wxs.3_Missense_Mutation_p.S957L|ASXL1_uc010geb.3_Missense_Mutation_p.S849L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	958					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T957S(2)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGCCTTACTTCACTCTGGACT	0.527000			"""F, N, Mis"""		"""MDS, CMML"""									47			69		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164518	139164518	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:139164518C>T	uc003yuy.3	-	12	2371	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K	FAM135B_uc003yux.3_Missense_Mutation_p.E635K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E296K|FAM135B_uc003yvb.3_Missense_Mutation_p.E296K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	734										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGTTACTTTCTGTGTGTCCA	0.542000										HNSCC(54;0.14)				66			13		0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182615997	182615997	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:182615997G>A	uc010pnw.1	-	6	674	c.416C>T	c.(415-417)tCc>tTc	p.S139F	RGS8_uc001gpn.1_Missense_Mutation_p.S139F|RGS8_uc001gpm.1_Missense_Mutation_p.S157F	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	139	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GCAAGTCAGGGATGGCTCCTG	0.507000														223			41		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700274	77700274	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:77700274C>T	uc011cbx.2	+	10	6888	c.5935C>T	c.(5935-5937)Cct>Tct	p.P1979S	SHROOM3_uc003hkg.3_Missense_Mutation_p.P1757S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1979					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGAGCCCATTCCTGCTGGGGG	0.517000														83			9		0	0	1	0	0
FIS1	51024	broad.mit.edu	37	7	100884135	100884135	+	Silent	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:100884135C>A	uc003uyj.4	-	2	317	c.231G>T	c.(229-231)ctG>ctT	p.L77L	CLDN15_uc003uyg.2_5'Flank|CLDN15_uc003uyh.2_5'Flank|FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Non-coding_Transcript	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN	Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.	77					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCCCACGGCCAGGTAGAAGA	0.592000														92			41		3.61848e-18	3.71179e-18	1	1	0
PLXNB1	5364	broad.mit.edu	37	3	48456644	48456644	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:48456644T>A	uc003csw.2	-	19	4177	c.3907A>T	c.(3907-3909)Agg>Tgg	p.R1303W	PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Missense_Mutation_p.R1120W|PLXNB1_uc003csx.2_Missense_Mutation_p.R1303W|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_Missense_Mutation_p.R11W	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1303	IPT/TIG 3.|Poly-Arg.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGCGACGCCTCCGTCCAAGC	0.637000														62			8		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724823	13724823	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:13724823G>A	uc001rbt.2	-	9	2265	c.2086C>T	c.(2086-2088)Cgc>Tgc	p.R696C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	696					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|glycine binding|zinc ion binding	p.R696C(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGTTATTGCGAATATTTCTC	0.483000														43			22		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49168221	49168221	+	Silent	SNP	G	A	A	rs115957272	by1000genomes	TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:49168221G>A	uc001rsh.4	-	12	2907	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S	ADCY6_uc001rsi.4_Silent_p.S749S|ADCY6_uc001rsj.4_Silent_p.S749S|ADCY6_uc010slw.1_5'UTR|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	749					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CAAGCAGGACGGAAAAGATGC	0.557000														51			27		0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56598703	56598703	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:56598703G>A	uc010wnx.2	-	9	1216	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	SEPT4_uc002iwk.2_Silent_p.I195I|SEPT4_uc010wnw.2_Silent_p.I195I|SEPT4_uc002iwl.2_Silent_p.I195I|SEPT4_uc002iwm.2_Silent_p.I342I|SEPT4_uc002iwo.2_Silent_p.I323I|SEPT4_uc002iwp.2_3'UTR|SEPT4_uc010wny.2_Silent_p.I334I|SEPT4_uc010dcy.2_3'UTR	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	342					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCAAATGGGATGCTTTCCT	0.532000											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			14		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966551	41966551	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:41966551G>A	uc010skn.2	+	9	1978	c.1970G>A	c.(1969-1971)gGg>gAg	p.G657E	PDZRN4_uc001rmq.4_Missense_Mutation_p.G399E|PDZRN4_uc009zjz.3_Missense_Mutation_p.G397E|PDZRN4_uc001rmr.3_Missense_Mutation_p.G284E	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	657							ubiquitin-protein ligase activity|zinc ion binding	p.A657S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGCAATCAAGGGGAGCAAGAG	0.448000														80			13		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16032718	16032718	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:16032718G>A	uc010lsu.3	-	2	313	c.249C>T	c.(247-249)atC>atT	p.I83I	MSR1_uc003wwz.3_Silent_p.I65I|MSR1_uc003wxa.3_Silent_p.I65I|MSR1_uc003wxb.3_Silent_p.I65I|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	65	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAATGAGAGGGATGAGAACTG	0.408000														42			13		0	0	1	0	0
GTPBP5	26164	broad.mit.edu	37	20	60775992	60775992	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:60775992G>A	uc002yce.4	+	6	1118	c.1080G>A	c.(1078-1080)cgG>cgA	p.R360R	GTPBP5_uc011aaf.2_Silent_p.R202R|GTPBP5_uc011aab.2_Silent_p.R132R|GTPBP5_uc011aac.2_Silent_p.R132R|GTPBP5_uc011aad.2_Silent_p.R132R|GTPBP5_uc011aae.2_Silent_p.R132R	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA.	360	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)	15	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			CCCAGCTCCGGGATCACTTGG	0.587000														37			50		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123109300	123109300	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:123109300C>T	uc003vkn.3	-	8	2126	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	IQUB_uc003vko.3_Missense_Mutation_p.D517N|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.D517N	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	517										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AACAGCACATCCAGCCTCTCA	0.358000														51			34		0	0	1	0	0
SFTA3	253970	broad.mit.edu	37	14	36946289	36946289	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:36946289C>T	uc001wtr.3	-	2	780	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	SFTA3_uc001wtq.3_Non-coding_Transcript|SFTA3_uc001wts.3_Non-coding_Transcript	NM_001101341	NP_001094811	P0C7M3	SFTA3_HUMAN	Homo sapiens surfactant associated 3 (SFTA3), mRNA.	50										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						ATCCGCTTTTCCCTCTCCCTC	0.522000														43			30		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725435	106725435	+	RNA	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:106725435G>A	uc021ser.1	-	927		c.22077C>T								Parts of antibodies, mostly variable regions.																		CTGCACAGGAGAGTCTCAGGG	0.572000														515			96		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436868	10436868	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:10436868G>A	uc010coi.3	-	19	2390	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.S754S|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.	754	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						CAATGTCGATGGATGCAAGGA	0.408000														63			51		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066296	23066296	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:23066296G>A	uc002wsv.3	-	0	682	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	178					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACTTGCACACGAAGCCCTCAA	0.652000														61			62		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34226192	34226192	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:34226192G>A	uc001mvl.2	-	1	1354	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	124							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ATGGCCCAGGGACCCGCCGTT	0.627000														13			22		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2592967	2592967	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:2592967G>T	uc002wgf.1	+	12	1739	c.1724G>T	c.(1723-1725)tGg>tTg	p.W575L	TMC2_uc002wgg.1_Missense_Mutation_p.W559L|TMC2_uc010zpw.1_Missense_Mutation_p.W407L|TMC2_uc010zpx.1_Missense_Mutation_p.W406L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	575						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTTCTTGCTGGGAGACAGCT	0.498000														114			11		1.61879e-10	1.65108e-10	1	1	0
PTGS2	5743	broad.mit.edu	37	1	186647512	186647512	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:186647512G>A	uc001gsb.3	-	3	475	c.338C>T	c.(337-339)cCa>cTa	p.P113L	PTGS2_uc009wyo.3_5'UTR	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	113					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|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			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	GTAAGTTGGTGGACTGTCAAT	0.358000														23			29		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103244823	103244823	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:103244823C>A	uc022ajr.1	-	22	3276	c.3116G>T	c.(3115-3117)gGg>gTg	p.G1039V	RELN_uc022ajq.1_Missense_Mutation_p.G1039V|RELN_uc010liz.3_Missense_Mutation_p.G1039V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1039	EGF-like 2.				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)		TGAGCCATGCCCACTGCACAT	0.532000														62			36		2.09667e-21	2.15691e-21	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54797943	54797943	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:54797943C>T	uc001sga.3	-	14	1619	c.1551G>A	c.(1549-1551)ggG>ggA	p.G517G		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	517					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCACAGGGTTCCCCTCTAAGC	0.612000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			42		0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7010461	7010461	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:7010461C>T	uc002gep.3	-	6	788	c.521G>A	c.(520-522)aGg>aAg	p.R174K	ASGR2_uc002gen.1_Missense_Mutation_p.R155K|ASGR2_uc002geo.2_Missense_Mutation_p.R169K|ASGR2_uc002geq.3_Missense_Mutation_p.R150K|ASGR2_uc002ger.3_Missense_Mutation_p.R174K	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	174					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GCAGCAGGTCCTTTGGGAGCC	0.662000														64			26		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500279	31500279	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:31500279C>T	uc002ecf.4	+	10	1378	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	SLC5A2_uc010car.3_Intron|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	453					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GGCAGCTCTTCGATTACATCC	0.662000														74			16		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130410937	130410937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:130410937C>T	uc004ewe.4	-	13	2882	c.2599G>A	c.(2599-2601)Gac>Aac	p.D867N	IGSF1_uc004ewd.3_Missense_Mutation_p.D862N|IGSF1_uc022cdv.1_Missense_Mutation_p.D853N|IGSF1_uc004ewf.2_Missense_Mutation_p.D842N	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	862	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCACAGGGTCGCTGGGCTCA	0.557000														89			119		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121384959	121384959	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:121384959G>A	uc001pxx.3	+	7	1269	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	380					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGAGGGGCTGAAGTTCTCCC	0.537000														17			28		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306810	54306810	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:54306810C>T	uc021smr.1	+	0	1710	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	UNC13C_uc021sms.1_Silent_p.F570F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	570					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)		ATCAGTTTTTCACTAGAACTA	0.428000														22			15		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91348402	91348402	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:91348402G>A	uc001tbj.3	-	0	552	c.118C>T	c.(118-120)Cga>Tga	p.R40*		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	40										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GGGCGCCTTCGATGGCAGGAC	0.667000														26			7		0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809341	5809341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:5809341G>A	uc010qzo.2	-	0	706	c.706C>T	c.(706-708)Cga>Tga	p.R236*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GCCTTCTGTCGAGCATCTGCT	0.478000														20			52		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701903	56701903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:56701903C>T	uc010ygh.2	-	3	781	c.781G>A	c.(781-783)Gcc>Acc	p.A261T		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	261					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R260I(1)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCACAGAGGCTCTTTTCTGG	0.493000														87			29		0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41137656	41137656	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr21:41137656G>A	uc002yyo.3	+	2	398	c.295G>A	c.(295-297)Gac>Aac	p.D99N		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	99	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCAGAGGTACGACCAGGGCGG	0.567000														37			14		0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114356239	114356239	+	Silent	SNP	T	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:114356239T>C	uc002tkh.3	+	5	775	c.717T>C	c.(715-717)cgT>cgC	p.R239R	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCTTTGCCCGTGTGTCAGACT	0.642000														17			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427525	179427525	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:179427525C>T	uc021vsy.1	-	274	75855	c.75630G>A	c.(75628-75630)gtG>gtA	p.V25210V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V18905V|TTN_uc021vta.1_Silent_p.V18838V|TTN_uc021vtb.1_Silent_p.V18713V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26137	Fibronectin type-III 83.						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)			AGTCTTTCTTCACTTCTCTTA	0.398000														16			15		0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15792603	15792603	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:15792603C>T	uc001awk.3	+	5	629	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	201	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCAGTATGATCTGTGCTGGGG	0.572000														108			67		0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36492192	36492192	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:36492192G>A	uc003omg.3	-	2	820	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	STK38_uc003omh.3_Missense_Mutation_p.R78C|STK38_uc003omi.3_Missense_Mutation_p.R78C	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	78	Interaction with S100B.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTTCAAACGAAGAAACTCT	0.393000														64			36		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712283	121712283	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:121712283G>A	uc003ees.3	-	6	1516	c.1313C>T	c.(1312-1314)cCt>cTt	p.P438L	ILDR1_uc003eeq.3_Missense_Mutation_p.P406L|ILDR1_uc003eer.3_Missense_Mutation_p.P394L|ILDR1_uc010hrg.3_Missense_Mutation_p.P349L	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	438	Arg-rich.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTCCTGAAAGGAGGGTGGCT	0.662000														30			5		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154112301	154112301	+	Nonsense_Mutation	SNP	G	A	A	rs142024728		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:154112301G>A	uc001fdw.3	-	4	766	c.694C>T	c.(694-696)Cga>Tga	p.R232*	NUP210L_uc010peh.2_Nonsense_Mutation_p.R232*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	232						integral to membrane		p.R232*(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCATGAATTCGAACTTTTACA	0.368000														327			48		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153665857	153665857	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:153665857C>T	uc001fcs.4	+	21	3574	c.3153C>T	c.(3151-3153)ctC>ctT	p.L1051L	NPR1_uc010pdz.2_Silent_p.L797L|NPR1_uc010pea.2_Silent_p.L529L	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	1051					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCTACTGGCTCCTTGGGGAGA	0.612000														70			106		0	0	1	0	0
BC034424	0	broad.mit.edu	37	15	72639138	72639138	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:72639138G>A	uc002aug.3	+	2		c.1577_splice	c.e2+1		CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Intron|HEXA_uc002aun.4_Intron|HEXA_uc010bix.3_Intron|HEXA_uc010biy.2_Intron|HEXA_uc010uko.1_Intron					Homo sapiens hexosaminidase A (alpha polypeptide), mRNA (cDNA clone IMAGE:4823589).																		TGGGACAACAGGTATGTGCTC	0.502000														31			9		0	0	1	0	0
AK057473	0	broad.mit.edu	37	17	20805938	20805938	+	RNA	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:20805938G>A	uc002gyg.1	+	3		c.1122G>A			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		TTCCCGGTCAGAAAGACCCCG	0.592000														36			5		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151716751	151716751	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:151716751G>T	uc003wkp.3	+	8	1467	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	GALNTL5_uc010lqf.3_Missense_Mutation_p.K288N|GALNTL5_uc003wkq.3_Missense_Mutation_p.K150N|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.	399						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)		TTCTTCGAAAGCCTGGTCTGA	0.378000														59			35		1.57019e-19	1.613e-19	1	1	0
MEFV	4210	broad.mit.edu	37	16	3299597	3299597	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:3299597C>T	uc002cun.1	-	2	1134	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	MEFV_uc021tbw.1_Missense_Mutation_p.G154E|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	365					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)	GCTTAGGCTTCCCGGGCTCTT	0.647000														42			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140729878	140729878	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:140729878C>T	uc003ljo.2	+	0	51	c.51C>T	c.(49-51)ccC>ccT	p.P17P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.P17P	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	0					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)			TACTGTTTCCCTTCCTGCTGT	0.522000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			5		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458237	248458237	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:248458237G>A	uc010pzj.2	-	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GAGACCATAGGAGGACAGGAT	0.537000														55			81		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850769	13850769	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:13850769G>A	uc003jfd.2	-	30	5148	c.5106C>T	c.(5104-5106)tcC>tcT	p.S1702S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1702	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)					ACCCAGTAAGGGATTTCTGGC	0.463000									Kartagener syndrome					62			18		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155188246	155188247	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:155188246_155188247CC>TT	uc001fjd.3	-	1	195_196	c.51_52GG>AA	c.(49-54)agggta>agAAta	p.V18I	GBA_uc001fjf.4_Intron|GBA_uc001fje.4_5'UTR|GBA_uc021pau.1_Intron			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	18					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	p.R17M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)		Alglucerase(DB00088)|Imiglucerase(DB00053)	ATGATGCTTACCCTACCCGAAG	0.554000									Gaucher disease type I					226			50		0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70229752	70229752	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:70229752G>A	uc021pru.1	-	1	501	c.501C>T	c.(499-501)atC>atT	p.I167I	DNA2_uc021prt.1_Silent_p.I167I|DNA2_uc001jog.2_Silent_p.I81I|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	81					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CATTCCTAAGGATGCATAGTT	0.393000														7			4		0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39577166	39577167	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:39577166_39577167CC>TT	uc002hwp.1	-	6	1360_1361	c.1313_1314GG>AA	c.(1312-1314)ggg>gAA	p.G438E		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	438	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGAGGGAGACCCACCGGTGAC	0.574000														31			9		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33338182	33338182	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:33338182G>A	uc002xav.3	-	9	4387	c.1816C>T	c.(1816-1818)Ctc>Ttc	p.L606F	NCOA6_uc002xaw.3_Missense_Mutation_p.L606F|NCOA6_uc021wcd.1_Missense_Mutation_p.L606F|NCOA6_uc021wce.1_Missense_Mutation_p.L606F|NCOA6_uc021wcf.1_Missense_Mutation_p.L606F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	606	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATGTTGCTGAGGTTCACTTGA	0.582000														84			8		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	101847169	101847169	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:101847169C>T	uc003pqp.4	+	0	309	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	GRIK2_uc021zdi.1_Non-coding_Transcript|GRIK2_uc021zdj.1_Missense_Mutation_p.P6S|GRIK2_uc003pqn.3_Missense_Mutation_p.P6S|GRIK2_uc010kcw.3_Missense_Mutation_p.P6S|GRIK2_uc003pqo.4_Missense_Mutation_p.P6S|GRIK2_uc021zdk.1_Missense_Mutation_p.P6S|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	6					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GATTATTTTCCCGATTCTAAG	0.488000														40			32		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516620	179516620	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:179516620G>A	uc021vsy.1	-	158	32293	c.32068C>T	c.(32068-32070)Cct>Tct	p.P10690S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11617	Glu-rich.|Pro-rich.						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)			CCTTGTGGAGGCGCCGCTGGC	0.512000														8			4		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044283	43044283	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:43044283G>T	uc001zqo.2	-	13	3600	c.3161C>A	c.(3160-3162)cCa>cAa	p.P1054Q	TTBK2_uc010bcy.2_Missense_Mutation_p.P985Q	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1054					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AACTGGCCTTGGAATTTTGCT	0.493000														71			19		0.000132079	0.000132821	1	1	0
IQSEC1	9922	broad.mit.edu	37	3	12950814	12950814	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:12950814G>A	uc003bxt.2	-	10	2588	c.2579C>T	c.(2578-2580)tCc>tTc	p.S860F	IQSEC1_uc003bxu.3_Missense_Mutation_p.S738F|IQSEC1_uc011auw.1_Missense_Mutation_p.S846F	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	860	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCCGCAATGGACTCCCGCAG	0.537000														115			21		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54025323	54025323	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:54025323C>T	uc011dxa.2	+	6	2398	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S	MLIP_uc003pcf.2_Missense_Mutation_p.P778S|MLIP_uc003pcg.4_Missense_Mutation_p.P254S|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	254						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						GCTCTATTTTCCTGCACAGCT	0.418000														44			6		0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129681983	129681983	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:129681983A>C	uc001lka.1	-	1	549	c.386T>G	c.(385-387)gTg>gGg	p.V129G	CLRN3_uc001ljz.1_Missense_Mutation_p.V61G	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	129						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				CCAGGTGTACACCCCCGTCGG	0.572000														22			22		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786338	112786338	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:112786338G>A	uc002thk.1	+	18	3019	c.2897G>A	c.(2896-2898)gGg>gAg	p.G966E	MERTK_uc002thl.1_Missense_Mutation_p.G790E	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	966					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	p.G966V(2)		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						GTTAGGAATGGGGTCTCCTGG	0.537000														51			10		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141122267	141122267	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:141122267G>C	uc002tvj.1	-	71	12066	c.11094C>G	c.(11092-11094)gaC>gaG	p.D3698E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3698	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3698N(1)		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)		TGTCTCCACAGTCGTCCTCTC	0.408000										TSP Lung(27;0.18)				101			5		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150528791	150528791	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:150528791G>A	uc009wlw.3	+	8	1752	c.1594G>A	c.(1594-1596)Gga>Aga	p.G532R	ADAMTSL4_uc001euw.3_Missense_Mutation_p.G509R|ADAMTSL4_uc001eux.3_Missense_Mutation_p.G509R|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.G532R|ADAMTSL4_uc009wlx.3_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	509					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GATTCCAGCGGGAGCCTTGCG	0.617000														127			20		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129470195	129470195	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:129470195G>A	uc021zfb.1	+	6	1086	c.981G>A	c.(979-981)caG>caA	p.Q327Q	LAMA2_uc003qbn.3_Silent_p.Q327Q|LAMA2_uc003qbo.3_Silent_p.Q327Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	327	Laminin EGF-like 1.				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.Q327*(1)		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)		GATTCCATCAGAAACCCTGGA	0.403000														41			23		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323206	31323206	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:31323206G>A	uc003jhe.2	+	11	2524	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	722					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.E722K(4)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGGTTAAAGGAAAATGACAC	0.562000														65			5		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994742	121994742	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:121994742G>A	uc003eew.4	+	4	1899	c.1461G>A	c.(1459-1461)ggG>ggA	p.G487G	CASR_uc003eev.4_Silent_p.G487G	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	487					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)	ACCTGGTGGGGAACTATTCCA	0.488000														50			72		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160278903	160278903	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:160278903G>T	uc001fvv.4	-	12	1601	c.1207C>A	c.(1207-1209)Cag>Aag	p.Q403K	COPA_uc009wti.3_Missense_Mutation_p.Q403K|COPA_uc009wtj.1_Missense_Mutation_p.Q349K	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	403					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGGATTCTGGGAGTCAGCA	0.433000														134			13		4.7546e-09	4.81513e-09	1	1	0
UBN1	29855	broad.mit.edu	37	16	4924567	4924567	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:4924567C>T	uc002cyb.3	+	14	2495	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	UBN1_uc010uxw.2_Missense_Mutation_p.A719V|UBN1_uc002cyc.3_Missense_Mutation_p.A719V	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	719					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGGAACTTTGCGAAGCCTAGT	0.517000														239			125		0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41229062	41229062	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:41229062C>T	uc001zng.2	+	8	2213	c.1877C>T	c.(1876-1878)aCc>aTc	p.T626I		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	626					Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGGCGGGGGACCATGCCAGGA	0.597000														29			21		0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012942	151012942	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:151012942C>T	uc003eyt.2	-	2	453	c.92G>A	c.(91-93)gGa>gAa	p.G31E	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	31						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.P30S(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGTTCTTTCCTGGCCCGTC	0.483000														82			12		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105139465	105139465	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:105139465G>A	uc004emd.3	+	6	832	c.529G>A	c.(529-531)Gac>Aac	p.D177N	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	177	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AATTCACCGGGACATCAAAGG	0.348000										HNSCC(51;0.14)				34			33		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099262	46099262	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:46099262G>A	uc003gxb.3	-	1	361	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	70					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S70L(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTGAAGCAATGAATTCAGAAT	0.383000														79			12		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43770451	43770451	+	Silent	SNP	T	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:43770451T>G	uc010skx.2	-	32	5001	c.5001A>C	c.(4999-5001)tcA>tcC	p.S1667S		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1667	TSP type-1 15.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CACAAGTCACTGAGCACTGTG	0.368000														47			36		0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118981581	118981581	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:118981581C>T	uc001pvn.3	+	3	954	c.595C>T	c.(595-597)Cct>Tct	p.P199S	C2CD2L_uc001pvo.3_Missense_Mutation_p.P199S	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	199						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGAGGAAATCCCTGGTGAGGG	0.552000														87			70		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97771850	97771850	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:97771850G>A	uc001drv.3	-	16	2199	c.2062C>T	c.(2062-2064)Cca>Tca	p.P688S		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	688					'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)	ACCAGCTCTGGATCCTGTTCA	0.433000														97			25		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834450	125834450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:125834450G>A	uc001uhe.1	+	1	513	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	TMEM132B_uc021rgl.1_Missense_Mutation_p.E59K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	169						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGAGGCCAGGGAAGTGGCAGC	0.592000														89			44		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782433	6782433	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:6782433G>A	uc003wqt.3	-	1	251	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	70					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AATGGCAAGTGAAAGCCCTTG	0.493000														20			13		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17597610	17597610	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:17597610G>A	uc001bai.3	+	8	1024	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	328					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)	AGCTGGCCAGGAAGGCCGGCT	0.652000														24			19		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538458	55538458	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:55538458G>A	uc003xsd.1	+	3	2164	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	672	Poly-Lys.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAGCAAAAAGAAGAAAAAAT	0.333000														30			26		0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25832756	25832756	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr13:25832756C>T	uc001uqf.4	-	6	1120	c.801G>A	c.(799-801)caG>caA	p.Q267Q	MTMR6_uc001uqe.1_Silent_p.Q267Q|MTMR6_uc021rhi.1_Silent_p.Q61Q	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	Homo sapiens myotubularin related protein 6 (MTMR6), mRNA.	267	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTCCAACAAACTGAAATCTAA	0.318000														11			13		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57012419	57012419	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:57012419C>T	uc003pdm.1	+	9	1760	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	ZNF451_uc003pdl.3_Silent_p.V512V|ZNF451_uc003pdn.1_Silent_p.V512V|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.V512V	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	512					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)			ATTCAGGGGTCATTCGTTTAC	0.408000														156			194		0	0	1	0	0
MESDC2	23184	broad.mit.edu	37	15	81271619	81271619	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:81271619G>A	uc002bfy.1	-	2	719	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	216					Wnt receptor signaling pathway|mesoderm development|protein folding	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CGAGATTTCAGATCTCCTTCC	0.498000														42			16		0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78940988	78940988	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:78940988C>T	uc010jae.1	+	8	1212	c.794C>T	c.(793-795)cCa>cTa	p.P265L	PAPD4_uc003kgb.2_Missense_Mutation_p.P265L|PAPD4_uc010jaf.1_Missense_Mutation_p.P265L|PAPD4_uc003kga.2_Missense_Mutation_p.P261L|PAPD4_uc003kfz.2_Missense_Mutation_p.P265L	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	265					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GCAAAAGTGCCAATTGTGAAG	0.343000														22			5		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803445	20803445	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:20803445C>G	uc010vba.2	+	10	1610	c.1535C>G	c.(1534-1536)tCc>tGc	p.S512C	ACSM3_uc002dhr.3_Missense_Mutation_p.S483C|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	483					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GTCATATTATCCTCTGGGTAA	0.403000														102			53		0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11985529	11985529	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:11985529T>A	uc001atl.2	-	0	957	c.766A>T	c.(766-768)Act>Tct	p.T256S	KIAA2013_uc001atk.3_Missense_Mutation_p.T256S	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	Homo sapiens KIAA2013 (KIAA2013), mRNA.	256						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAACCCAGTGGGCGTAGGC	0.657000														11			14		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53453062	53453062	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:53453062G>A	uc001sbp.3	+	17	1772	c.1637G>A	c.(1636-1638)gGa>gAa	p.G546E	TENC1_uc001sbl.3_Missense_Mutation_p.G422E|TENC1_uc001sbn.3_Missense_Mutation_p.G556E|TENC1_uc001sbq.3_Missense_Mutation_p.G41E|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Missense_Mutation_p.G41E	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	546					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGCCTCCTAGGAGGCTGCGGA	0.701000														11			5		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089626	86089626	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:86089626G>A	uc021rxf.1	+	0	1768	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	FLRT2_uc001xvr.3_Missense_Mutation_p.E590K|FLRT2_uc010atd.3_Missense_Mutation_p.E590K	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	590					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGATTATTGCGAGGCAGGCAC	0.488000														164			32		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142308	48142308	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:48142308C>T	uc001rpz.4	-	11	1722	c.1172G>A	c.(1171-1173)gGc>gAc	p.G391D	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.G349D|RAPGEF3_uc009zkq.3_Missense_Mutation_p.G349D|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.G403D	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	349					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTCTGGGGTGCCAGACATCAC	0.517000														21			11		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343714	248343714	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:248343714C>T	uc010pzf.2	+	0	427	c.427C>T	c.(427-429)Ctt>Ttt	p.L143F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G142*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			AATTTGTGGACTTATGGCTAC	0.428000														150			268		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183220	140183220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:140183220C>T	uc011czz.2	+	0	2438	c.2438C>T	c.(2437-2439)tCa>tTa	p.S813L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc011czy.2_Intron	NM_031497	NP_113685	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 2, mRNA.	0					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)			CTTTGTTTTTCATTCCTCAAT	0.338000														25			8		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40318449	40318449	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:40318449G>A	uc002hzb.2	-	9	2039	c.1706C>T	c.(1705-1707)tCg>tTg	p.S569L		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	569					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATGTGCAGCGATAGGGCCCG	0.627000														36			9		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38939031	38939031	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:38939031C>T	uc002oit.3	+	9	967	c.837C>T	c.(835-837)ctC>ctT	p.L279L	RYR1_uc002oiu.3_Silent_p.L279L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	279	MIR 4.				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)	GCCAGCCACTCCGAGTCCGGC	0.642000														123			41		0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265011	67265011	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:67265011G>A	uc001olx.3	-	11	2111	c.1922C>T	c.(1921-1923)cCc>cTc	p.P641L	PITPNM1_uc001olw.3_5'UTR|PITPNM1_uc001oly.3_Missense_Mutation_p.P641L|PITPNM1_uc001olz.3_Missense_Mutation_p.P641L	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	641					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.P641_S644delPEGS(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AGAGCCCTCGGGCTCAGGACT	0.672000														196			6		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750298	142750298	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:142750298C>T	uc011ksv.2	+	0	861	c.861C>T	c.(859-861)atC>atT	p.I287I		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					ATCCCTTTATCCTTACCTTCT	0.522000														47			34		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38039157	38039157	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:38039157C>T	uc003ati.3	+	5	1187	c.449C>T	c.(448-450)tCc>tTc	p.S150F	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.S150F|SH3BP1_uc003ath.1_Missense_Mutation_p.S150F|SH3BP1_uc003atj.1_Missense_Mutation_p.S86F|SH3BP1_uc003atk.1_Missense_Mutation_p.S64F|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	150	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AAGCTCGTGTCCGACTGGAAC	0.617000											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			5		0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157685	26157685	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:26157685C>T	uc022bub.1	+	0	583	c.583C>T	c.(583-585)Ccc>Tcc	p.P195S	MAGEB18_uc004dbq.2_Missense_Mutation_p.P195S	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	195	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGAAAAAATTCCCAAGACTGG	0.443000														7			8		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16485145	16485145	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:16485145G>A	uc002wpg.2	-	9	1207	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	KIF16B_uc010gch.2_Missense_Mutation_p.R350C|KIF16B_uc010gci.2_Missense_Mutation_p.R350C|KIF16B_uc010gcj.2_Missense_Mutation_p.R350C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	350	Kinesin-motor.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTGCATAGCGAAGAGTACTT	0.398000														82			62		0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28855288	28855288	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:28855288G>A	uc002drh.2	-	7	1196	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_Non-coding_Transcript|SH2B1_uc002dri.3_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA.	350						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TCCACCTTCTGGTGGGGCTTG	0.662000														33			17		0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19739776	19739776	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:19739776T>A	uc003sup.1	-	2	545	c.524A>T	c.(523-525)gAt>gTt	p.D175V		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	175						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTCTAGTTCATCACCCATGTT	0.408000														164			28		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244858	46244858	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:46244858C>T	uc001ros.1	+	14	2952	c.2952C>T	c.(2950-2952)gtC>gtT	p.V984V	ARID2_uc001ror.3_Silent_p.V984V|ARID2_uc009zkg.1_Silent_p.V440V|ARID2_uc009zkh.1_Silent_p.V611V|ARID2_uc001rou.1_Silent_p.V318V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	984	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q983*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATAACCAAGTCCCTACTGCCA	0.488000			"""N, S, F"""		hepatocellular carcinoma									87			48		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077349	9077349	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:9077349G>A	uc002mkp.3	-	2	10301	c.10097C>T	c.(10096-10098)tCc>tTc	p.S3366F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3367	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						AAGGATATTGGAAGATGTGCT	0.468000														165			58		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894130	10894130	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:10894130G>A	uc003mzo.3	+	2	405	c.109G>A	c.(109-111)Gat>Aat	p.D37N	SYCP2L_uc011dim.1_Non-coding_Transcript	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	37						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGCATTCCATGATAAAGGATT	0.303000														24			10		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95022258	95022258	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:95022258C>T	uc002btj.3	+	21	2697	c.2632C>T	c.(2632-2634)Ctc>Ttc	p.L878F	MCTP2_uc010boj.3_Missense_Mutation_p.L607F|MCTP2_uc010bok.3_Missense_Mutation_p.L823F|MCTP2_uc002btl.3_Missense_Mutation_p.L466F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	878					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GCGCAGCGCTCTCTAGGGCAC	0.517000														29			12		0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756374	183756374	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:183756374G>A	uc011bqv.2	+	6	1097	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR3D_uc003fmj.3_Missense_Mutation_p.G191E|HTR3D_uc011bqu.2_Missense_Mutation_p.G316E|HTR3D_uc010hxp.3_Missense_Mutation_p.G145E	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	366						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGAAGGGAAATAAGGGC	0.657000														32			12		0	0	1	0	0
SNRNP40	9410	broad.mit.edu	37	1	31769575	31769575	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:31769575C>T	uc010oge.2	-	0	70	c.24G>A	c.(22-24)aaG>aaA	p.K8K	SNRNP40_uc001bso.3_Silent_p.K8K|ZCCHC17_uc001bsp.1_5'Flank|ZCCHC17_uc001bsq.1_5'Flank|ZCCHC17_uc010ogf.1_5'Flank|ZCCHC17_uc009vtu.1_5'Flank|ZCCHC17_uc001bsr.1_5'Flank|ZCCHC17_uc009vtv.1_5'Flank	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA.	8						U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						ACTCTGGGCCCTTACGCTTCT	0.652000														42			40		0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149006	142149006	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:142149006G>A	uc010lnw.1	-	1	347	c.265C>T	c.(265-267)Cct>Tct	p.P89S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTATAGTTAGGGAACTGGCGA	0.527000														132			72		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42808403	42808403	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:42808403C>T	uc011cps.2	-	2	241	c.143G>A	c.(142-144)gGa>gAa	p.G48E	SEPP1_uc011cpt.2_Missense_Mutation_p.G18E|SEPP1_uc011cpu.2_Missense_Mutation_p.G18E|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	18					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GCTCTCTGTTCCTCCCGATGG	0.512000														13			40		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39330257	39330257	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:39330257G>C	uc003oot.2	-	16	1994	c.1899C>G	c.(1897-1899)gaC>gaG	p.D633E	KIF6_uc003oos.2_Missense_Mutation_p.D84E|KIF6_uc010jwz.1_Missense_Mutation_p.D8E|KIF6_uc010jxa.1_Missense_Mutation_p.D424E|KIF6_uc011dua.1_Missense_Mutation_p.D616E|KIF6_uc010jxb.1_Missense_Mutation_p.D577E	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	633					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCTCCTGCTGGTCTGGCATCA	0.522000											OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			35		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127730894	127730894	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:127730894C>T	uc003kuu.3	-	8	1591	c.1152G>A	c.(1150-1152)acG>acA	p.T384T	FBN2_uc003kuv.2_Silent_p.T351T	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	384	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.M383K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTGCATTTTCGTCATTCTCC	0.547000														24			21		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614067	3614067	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:3614067C>T	uc010btn.3	-	4	1282	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	291	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCTCCTCCTCGTTAAAGCCC	0.607000														56			32		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117683900	117683900	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:117683900C>T	uc003pxp.1	-	20	3446	c.3247G>A	c.(3247-3249)Gaa>Aaa	p.E1083K	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.	1083	Fibronectin type-III 5.				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)		TAGAAAATTTCAAATTTTGTT	0.338000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									45			15		0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47048920	47048920	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:47048920G>A	uc001cqb.3	-	2	360	c.116C>T	c.(115-117)tCc>tTc	p.S39F	MKNK1_uc010omd.2_5'UTR|MKNK1_uc001cqc.3_Missense_Mutation_p.S39F|MKNK1_uc009vyi.3_Missense_Mutation_p.S39F|MKNK1_uc010ome.2_5'UTR|MKNK1_uc009vyj.3_Missense_Mutation_p.P17S|MKNK1_uc001cqd.2_Missense_Mutation_p.S27F|MKNK1_uc010omf.1_Missense_Mutation_p.S39F	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	39					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCCTGGCAAGGAGTCAGTGGC	0.572000														131			27		0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74771214	74771214	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:74771214C>T	uc002jta.2	+	11	1983	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	MFSD11_uc002jtd.4_Missense_Mutation_p.P337L|MFSD11_uc002jtb.3_Missense_Mutation_p.P337L|MFSD11_uc002jtc.3_Missense_Mutation_p.P337L|MFSD11_uc002jte.3_Missense_Mutation_p.P337L|MFSD11_uc010dhb.3_Missense_Mutation_p.P285L|MFSD11_uc010dha.3_Missense_Mutation_p.P285L	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	337						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CCGATTGCTCCTGTTAAAGGA	0.463000														57			35		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48271757	48271757	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:48271757G>A	uc002iqm.3	-	22	1693	c.1567C>T	c.(1567-1569)Cct>Tct	p.P523S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	523	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCTTCACCAGGAGATCCTTTG	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							96			61		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51747199	51747199	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:51747199C>T	uc010hlv.3	+	2	1400	c.1161C>T	c.(1159-1161)gcC>gcT	p.A387A	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	387					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CAGTGTACGCCATGGCCCATG	0.632000														31			32		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476315	140476315	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:140476315G>A	uc003lil.3	+	0	2079	c.1941G>A	c.(1939-1941)aaG>aaA	p.K647K	PCDHB2_uc003lim.1_Silent_p.K308K	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	647	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCAAGGACAATGGCG	0.716000														82			21		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91182039	91182039	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:91182039C>T	uc002bpp.3	+	12	1646	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	CRTC3_uc002bpo.3_Missense_Mutation_p.P514S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	514					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCCTGCCTTTCCTCAACAGGT	0.493000			T	MAML2	salivary gland mucoepidermoid									34			10		0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120263838	120263838	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:120263838G>A	uc001ehz.3	+	1	411	c.184G>A	c.(184-186)Gat>Aat	p.D62N	PHGDH_uc009whl.3_5'UTR|PHGDH_uc009whm.3_5'UTR|PHGDH_uc001eib.3_Missense_Mutation_p.D28N	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	62					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)	GGTGACCGCTGATGTCATCAA	0.522000														104			26		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110838762	110838762	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr13:110838762G>A	uc001vqw.4	-	25	1989	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	623	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)			GGGCCTCCAGGAAAGCCTGCT	0.607000														74			120		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179552868	179552868	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:179552868C>T	uc021vsy.1	-	123	28774	c.28549G>A	c.(28549-28551)Gag>Aag	p.E9517K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6178K|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10444							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)			GCTTCTTCCTCCTCCTCTCTT	0.388000														82			27		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224645	3224645	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:3224645G>A	uc022aqr.1	-	19	3414	c.3024C>T	c.(3022-3024)atC>atT	p.I1008I	CSMD1_uc011kwj.2_Silent_p.I401I|CSMD1_uc003wqe.3_Silent_p.I165I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1009	CUB 6.					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)		GGCCTGCCTTGATCGTATGAG	0.478000														15			3		0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89478911	89478911	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:89478911G>A	uc001dmt.3	-	5	1030	c.825C>T	c.(823-825)tcC>tcT	p.S275S	GBP3_uc010oss.2_Silent_p.S196S|GBP3_uc001dmu.3_Silent_p.S141S|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Silent_p.S275S	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	275						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTTTAGTTTTGGAATTGCTAA	0.448000														99			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407408	179407408	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:179407408G>A	uc021vsy.1	-	296	89694	c.89469C>T	c.(89467-89469)acC>acT	p.T29823T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T23518T|TTN_uc021vta.1_Silent_p.T23451T|TTN_uc021vtb.1_Silent_p.T23326T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30750	Fibronectin type-III 117.						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)			TAACTTTAATGGTTTCTGAAG	0.338000														141			83		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862683	23862683	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:23862683G>A	uc001wjv.3	-	22	3044	c.2973C>T	c.(2971-2973)atC>atT	p.I991I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	991					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)		TCAGCTTAGCGATGATTTCAT	0.522000														90			83		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204844	9204844	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:9204844G>A	uc010xkj.2	+	0	924	c.924G>A	c.(922-924)aaG>aaA	p.K308K		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K308N(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCAACAGAAAGATCACCTCAT	0.498000														39			10		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120418	21120418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:21120418G>A	uc001iqi.3	-	14	1941	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	515					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGCCATCTCGGATGCTTTCTT	0.428000														18			23		0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916059	86916059	+	Missense_Mutation	SNP	C	T	T	rs149783359		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:86916059C>T	uc003hpk.3	+	8	1701	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	ARHGAP24_uc003hpl.3_Missense_Mutation_p.L323F|ARHGAP24_uc010ikf.3_Missense_Mutation_p.L333F|ARHGAP24_uc003hpm.3_Missense_Mutation_p.L325F	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	418					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGCCCCCCTCTCATGGTCAA	0.473000														146			77		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640796	34640796	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:34640796C>T	uc010ucc.2	+	2	1109	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	C15orf55_uc010ucd.2_Missense_Mutation_p.R233C|C15orf55_uc001zif.3_Missense_Mutation_p.R215C	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	215						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TGAGAACTTCCGTCAGTGGCA	0.542000			T	"""BRD3, BRD4"""	lethal midline carcinoma									71			24		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183499	13183499	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:13183499C>T	uc010obg.2	-	1	617	c.374G>A	c.(373-375)aGt>aAt	p.S125N		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	125						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TGCTGGGAAACTGTACATCCC	0.522000														105			14		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25174578	25174578	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:25174578G>A	uc003xeg.3	+	13	1511	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.G172G|DOCK5_uc003xei.3_Silent_p.G28G	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	458	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTGACAAAGGGAAGAAGAAGA	0.507000														110			31		0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	226028	226028	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:226028C>T	uc010pzu.2	+	1	417	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZMYND11_uc001ifk.3_Missense_Mutation_p.R26W|ZMYND11_uc010pzv.2_Missense_Mutation_p.R26W|ZMYND11_uc010pzw.2_Missense_Mutation_p.R26W|ZMYND11_uc001ifm.3_Missense_Mutation_p.R26W|ZMYND11_uc010pzx.2_Missense_Mutation_p.R26W|ZMYND11_uc001ifn.3_Missense_Mutation_p.R26W|ZMYND11_uc009xhg.3_5'UTR	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	Homo sapiens zinc finger, MYND-type containing 11 (ZMYND11), transcript variant 1, mRNA.	486					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGAGATTATACGGAACCAGAA	0.403000														61			3		0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177316	153177316	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:153177316G>A	uc001fbl.3	+	1	243	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	LELP1_uc021ozv.1_Missense_Mutation_p.E45K	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	45	Cys/Pro-rich.							p.F44F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACGCTGTTTCGAAAAGTGCCC	0.572000														77			125		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489977	123489977	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:123489977G>A	uc001uej.1	-	5	961	c.762C>T	c.(760-762)tcC>tcT	p.S254S	PITPNM2_uc001uek.1_Silent_p.S254S|PITPNM2_uc009zxu.1_Silent_p.S254S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	254					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)		CCATCTTACGGGAAAGCATGA	0.632000														181			39		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483591	19483591	+	Silent	SNP	G	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:19483591G>T	uc003jgd.3	-	11	2235	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Silent_p.P567P|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	567	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)					AGATCATAATGGGCAGATAAT	0.488000														40			9		2.74318e-10	2.79391e-10	1	1	0
APLP1	333	broad.mit.edu	37	19	36369813	36369813	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:36369813G>A	uc002oce.3	+	14	1807	c.1669G>A	c.(1669-1671)Ggt>Agt	p.G557S	APLP1_uc010xsz.2_Missense_Mutation_p.G518S|APLP1_uc002ocf.3_Missense_Mutation_p.G558S|APLP1_uc002ocg.3_Missense_Mutation_p.G461S|APLP1_uc010xta.2_Missense_Mutation_p.G551S	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	557					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	p.R557S(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTTCCAAGGGGTTTCCCTTT	0.602000														71			52		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25923937	25923937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:25923937C>T	uc011dkb.2	-	1	309	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	SLC17A2_uc011dkc.2_Missense_Mutation_p.E76K|SLC17A2_uc003nfl.3_Missense_Mutation_p.E76K			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	76					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTATCAAATTCCTTGATGGAT	0.433000														80			82		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212391	26212391	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:26212391C>T	uc022buc.1	+	0	428	c.428C>T	c.(427-429)tCc>tTc	p.S143F	MAGEB6_uc004dbr.3_Missense_Mutation_p.S143F	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	143	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CATGATGTCTCCGTTCCTCAG	0.527000														33			43		0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38899451	38899451	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:38899451C>T	uc002oin.1	+	7	998	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	FAM98C_uc002oio.1_Missense_Mutation_p.P245S|FAM98C_uc010xtz.1_3'UTR	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	327										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCTCCCATGCCCACCTGGAG	0.577000														58			39		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101375261	101375261	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:101375261C>T	uc001pgk.4	-	1	864	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	TRPC6_uc009ywy.3_Missense_Mutation_p.E147K|TRPC6_uc009ywz.1_Missense_Mutation_p.E147K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	147					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCTGTAATTTCCAGATGCTCA	0.443000														29			27		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47538834	47538834	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:47538834C>T	uc003gxk.1	+	8	1439	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Silent_p.I410I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	425					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						CCCTGAACATCGCCGAGGATC	0.408000														16			5		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105393510	105393510	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:105393510G>A	uc003yly.4	-	8	1605	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P	DPYS_uc010mcf.1_Silent_p.P62P	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	492					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCCCTTATAGGGTGCACGCT	0.488000														39			68		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304459	10304459	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:10304459C>T	uc002gmm.2	-	24	3253	c.3158G>A	c.(3157-3159)aGa>aAa	p.R1053K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1053					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCGCTTTGCTCTTTCTAGATC	0.348000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					53			17		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321216	56321216	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:56321216G>A	uc010ygf.2	-	4	1471	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	NLRP11_uc002qlz.3_Missense_Mutation_p.P155S|NLRP11_uc002qmb.3_Missense_Mutation_p.P155S|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.	254	NACHT.						ATP binding	p.P254S(2)		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)		ACTGGAATGGGAACTTTCTGG	0.448000														34			30		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58147080	58147080	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:58147080G>A	uc002iyk.1	-	6	948	c.931C>T	c.(931-933)Cca>Tca	p.P311S	HEATR6_uc010wos.1_Missense_Mutation_p.P143S	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	311							binding	p.R310*(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ACCAAAGTTGGTCGAGAAGCA	0.383000														45			30		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14976520	14976520	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:14976520C>T	uc002dcv.3	+	25	3163	c.3097C>T	c.(3097-3099)Cat>Tat	p.H1033Y		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1033						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GCTCCCCCACCATAGGGTGAT	0.577000														141			48		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70546218	70546218	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:70546218C>T	uc002ezc.3	-	4	673	c.662G>A	c.(661-663)cGc>cAc	p.R221H	COG4_uc002ezd.3_Missense_Mutation_p.R221H|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	217					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTTGAAGAAGCGCTCCACCTG	0.512000														40			21		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219875560	219875560	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:219875560C>T	uc002vjl.1	-	24	4200	c.4116G>A	c.(4114-4116)tgG>tgA	p.W1372*		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1372						integral to membrane	structural molecule activity	p.W1372C(2)		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)		GTGAGAAGATCCACAAGACCC	0.567000														16			12		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101728986	101728986	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:101728986G>A	uc001kqj.2	-	2	246	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	52	SH3 1.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAACTGCTGGGGAATTGTCCT	0.373000														15			14		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53741668	53741668	+	Silent	SNP	A	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:53741668A>C	uc002qbg.1	-	4	463	c.312T>G	c.(310-312)ccT>ccG	p.P104P	ZNF677_uc002qbf.1_Silent_p.P104P	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTCAAACTTAGGCATATTTT	0.343000														47			24		0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694699	141694699	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:141694699G>A	uc010jgi.1	-	2	285	c.44C>T	c.(43-45)tCc>tTc	p.S15F	SPRY4_uc003lml.2_5'UTR|SPRY4_uc021yet.1_5'Flank	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	0					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTGTACGGAGAAACAGGC	0.612000									Testicular Cancer, Familial Clustering of					22			11		0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44762800	44762800	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:44762800T>G	uc011baa.2	+	3	746	c.491T>G	c.(490-492)tTt>tGt	p.F164C	ZNF502_uc003cns.3_Missense_Mutation_p.F164C|ZNF502_uc011bab.2_Missense_Mutation_p.F164C|ZNF502_uc003cnt.3_Missense_Mutation_p.F164C	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GGAAAAACCTTTACTCAGAGC	0.388000														131			14		0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79077849	79077849	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:79077849C>T	uc002jzg.2	+	8	1115	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	BAIAP2_uc002jyz.4_Missense_Mutation_p.S336F|BAIAP2_uc002jza.2_Missense_Mutation_p.S336F|BAIAP2_uc002jzc.2_Missense_Mutation_p.S336F|BAIAP2_uc002jzb.2_Missense_Mutation_p.S93F|BAIAP2_uc010wuh.1_Missense_Mutation_p.S258F|BAIAP2_uc002jzd.2_Missense_Mutation_p.S336F|BAIAP2_uc002jzf.2_Missense_Mutation_p.S336F|BAIAP2_uc002jze.2_Missense_Mutation_p.S369F|BAIAP2_uc002jzh.2_Missense_Mutation_p.S337F|BAIAP2_uc010wui.2_Missense_Mutation_p.S199F	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	336					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTCAGCGACTCCTACTCCAAC	0.637000														77			21		0	0	1	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53096784	53096784	+	RNA	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr13:53096784C>T	uc001vgw.3	+	10		c.1161C>T								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.																		TTGGAGTTTTCCTGATCTTGT	0.318000														5			11		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784955	9784955	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:9784955C>T	uc003gmb.4	+	0	1698	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	434					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGGGTCCTTTCGATCGCATGT	0.557000														73			7		0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1656958	1656958	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:1656958G>A	uc021xkk.1	-	3	827	c.629C>T	c.(628-630)tCc>tTc	p.S210F	FAM53A_uc010ibw.3_Missense_Mutation_p.S210F|FAM53A_uc021xkl.1_Missense_Mutation_p.S210F	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	210						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GGACTCCGCGGAACACCAGAG	0.761000														10			3		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841659	100841659	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:100841659C>T	uc003pqj.4	-	9	1741	c.1274G>A	c.(1273-1275)aGg>aAg	p.R425K	SIM1_uc021zdg.1_Missense_Mutation_p.R425K|SIM1_uc010kcu.3_Missense_Mutation_p.R425K	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	425	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D424N(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGAGCCAGGCCTATCGGCGGG	0.597000														51			10		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114469560	114469560	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:114469560G>A	uc003kqs.3	-	7	2040	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	TRIM36_uc011cwc.2_Missense_Mutation_p.P499S|TRIM36_uc003kqt.3_Missense_Mutation_p.P356S	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	511	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ACCATACCTGGAGCTGGAGGA	0.393000														29			4		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220309595	220309595	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:220309595C>T	uc010fwg.3	+	2	527	c.527C>T	c.(526-528)tCc>tTc	p.S176F	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	176					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCCGACCTCCGTGACAGGC	0.672000														114			30		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114214	117114214	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:117114214C>T	uc003pxj.1	-	5	1894	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	GPRC6A_uc003pxk.1_Silent_p.V449V|GPRC6A_uc003pxl.1_Silent_p.V553V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	624					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CGGATGATTTCACAACAGGTG	0.428000														53			31		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157396	22157396	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:22157396C>G	uc021urr.1	-	3	589	c.440G>C	c.(439-441)cGt>cCt	p.R147P	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATATTTGCCACGTTGAAATAC	0.328000														86			4		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83126513	83126513	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:83126513C>T	uc004eei.1	+	2	133	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	CYLC1_uc004eeh.1_Missense_Mutation_p.P37S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	38					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						TTTGACATTTCCCAAACCACT	0.299000														13			20		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156489	94156489	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:94156489C>T	uc001ybv.1	+	43	6847	c.6764C>T	c.(6763-6765)tCc>tTc	p.S2255F	UNC79_uc001ybs.1_Missense_Mutation_p.S2233F	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2410						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAGTGTGTCTCCCATATCCGA	0.453000														48			27		0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686266	108686266	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:108686266C>T	uc009zuw.3	-	2	665	c.474G>A	c.(472-474)atG>atA	p.M158I	CMKLR1_uc001tmw.3_Missense_Mutation_p.M158I|CMKLR1_uc001tmv.3_Missense_Mutation_p.M156I|CMKLR1_uc009zuv.3_Missense_Mutation_p.M158I|CMKLR1_uc021rdj.1_Missense_Mutation_p.M156I	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	158					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CCATGCAGGCCATGTAAGCCA	0.567000														72			24		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	79639029	79639029	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:79639029C>T	uc003dqe.2	-	1	241	c.33G>A	c.(31-33)atG>atA	p.M11I		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	11					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGAGTGATATCATGACCAAAA	0.408000														58			63		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207172	58207172	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:58207172G>A	uc010rkh.2	-	0	475	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCATTCAGGAAACCACAGA	0.463000														34			25		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55961115	55961115	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:55961115C>T	uc003has.3	-	20	3127	c.2825G>A	c.(2824-2826)gGg>gAg	p.G942E	KDR_uc003hat.1_Missense_Mutation_p.G942E	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	942	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|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)	GAATCGTGCCCCTTTGGTCTA	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				53			10		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616137	248616137	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:248616137C>T	uc001iek.1	+	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F13V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACTAACTTCGTCCTCACAG	0.507000														56			60		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137206693	137206693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:137206693G>A	uc003vtt.3	-	20	2168	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	DGKI_uc003vtu.3_Missense_Mutation_p.R423C	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCCTCAGACGATCTGGGACA	0.463000														14			16		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36724045	36724045	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:36724045T>A	uc003omr.1	-	12	953	c.886A>T	c.(886-888)Aag>Tag	p.K296*	CPNE5_uc003omp.1_Nonsense_Mutation_p.K4*|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	296										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACGTATTTCTTTTTCTTCATT	0.517000														17			6		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3594308	3594308	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:3594308C>T	uc010btn.3	-	16	3201	c.2790G>A	c.(2788-2790)ggG>ggA	p.G930G		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	931					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCGTCATCCCCGATGGCGT	0.592000														36			13		0	0	1	0	0
CNN3	1266	broad.mit.edu	37	1	95363557	95363557	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:95363557G>A	uc001dqz.4	-	6	1016	c.731C>T	c.(730-732)tCc>tTc	p.S244F	CNN3_uc010otv.2_Missense_Mutation_p.S203F|CNN3_uc010otx.2_Missense_Mutation_p.S198F	NM_001839	NP_001830	Q15417	CNN3_HUMAN	Homo sapiens calponin 3, acidic (CNN3), mRNA.	244					actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CATCTGTAGGGAAATTGTCGA	0.463000														90			56		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113353089	113353089	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:113353089G>A	uc003ian.4	+	10	2613	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	ALPK1_uc003iap.4_Missense_Mutation_p.E796K|ALPK1_uc011cfx.2_Missense_Mutation_p.E718K|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.E624K	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	796							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGAAAGCACTGAAGATGCACC	0.483000														45			9		0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56075839	56075839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:56075839C>T	uc010spr.2	+	0	510	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	101							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						AGACCCAAATCCCCACTTTGA	0.582000														50			13		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6580149	6580149	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:6580149G>A	uc003gjf.1	+	2	351	c.315G>A	c.(313-315)ctG>ctA	p.L105L	MAN2B2_uc003gje.1_Silent_p.L105L|MAN2B2_uc011bwf.1_Silent_p.L105L	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	105					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AAGGACGCCTGGAATTTGTCA	0.592000														12			24		0	0	1	0	0
CXCL13	10563	broad.mit.edu	37	4	78532168	78532168	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:78532168C>T	uc003hkr.3	+	4	383	c.305C>T	c.(304-306)cCa>cTa	p.P102L		NM_006419	NP_006410	O43927	CXL13_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 13 (CXCL13), mRNA.	102					B cell chemotaxis|activation of Rap GTPase activity|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of T cell chemotaxis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|chemokine activity|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CTACCAGTTCCAGTGTTTAAG	0.378000														53			40		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133844271	133844271	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:133844271G>A	uc011ecs.2	+	17	2028	c.1712G>A	c.(1711-1713)gGa>gAa	p.G571E	EYA4_uc011ecq.2_Missense_Mutation_p.G511E|EYA4_uc011ecr.2_Missense_Mutation_p.G517E|EYA4_uc003qec.4_Missense_Mutation_p.G565E|EYA4_uc003qed.4_Missense_Mutation_p.G565E|EYA4_uc003qee.4_Missense_Mutation_p.G542E|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	565					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)		TATAGTTTAGGAGGTGCTTTC	0.383000														35			21		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587926	204587926	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:204587926C>T	uc021phy.1	-	0	1195	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.E399K|LRRN2_uc001hbf.1_Missense_Mutation_p.E399K|LRRN2_uc009xbf.1_Missense_Mutation_p.E399K|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	399	LRRCT.				cell adhesion	integral to membrane	receptor activity	p.E399K(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCCGGAGGCTCCGCACACAGG	0.662000														67			124		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824085	114824085	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:114824085G>A	uc003ibq.1	-	1	2033	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	ARSJ_uc010imu.1_Missense_Mutation_p.P382L|ARSJ_uc010imv.1_Missense_Mutation_p.P210L	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	382						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AATGAGAGTGGGGTACCAGTC	0.498000														140			21		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124749841	124749841	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:124749841G>A	uc001qbc.3	+	25	4124	c.3955G>A	c.(3955-3957)Gat>Aat	p.D1319N	ROBO3_uc001qbd.2_Missense_Mutation_p.D244N|ROBO3_uc010sar.2_Missense_Mutation_p.D368N|ROBO3_uc001qbe.3_Missense_Mutation_p.D244N|ROBO3_uc001qbf.1_Missense_Mutation_p.D203N	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1319					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GCTCCACCCAGATGGTAAGCA	0.672000														2			5		0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77987611	77987611	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:77987611G>A	uc001dhn.3	+	11	1748	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	AK5_uc001dho.3_Missense_Mutation_p.E445K	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	471					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAAGCAAGGGGAAGAGTTCGG	0.542000														21			14		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32221722	32221722	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:32221722G>A	uc001btn.3	-	3	1070	c.716C>T	c.(715-717)cCa>cTa	p.P239L	BAI2_uc010ogp.2_Missense_Mutation_p.P227L|BAI2_uc010ogq.2_Missense_Mutation_p.P239L|BAI2_uc001bto.3_Missense_Mutation_p.P239L|BAI2_uc001btq.1_Missense_Mutation_p.P227L|BAI2_uc010ogr.1_Missense_Mutation_p.P227L	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	239					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGGAGGGCCTGGAGATGTGGT	0.706000														36			24		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	32014353	32014353	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:32014353C>T	uc003ale.3	+	32	4071	c.3678C>T	c.(3676-3678)ccC>ccT	p.P1226P	SFI1_uc003alf.3_Silent_p.P1195P|SFI1_uc003alg.3_Silent_p.P1144P|SFI1_uc011alp.2_Silent_p.P1132P|SFI1_uc011alq.2_Silent_p.P1171P|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_Silent_p.P318P|SFI1_uc003alj.3_Silent_p.P360P	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	1226					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGCGCCAGCCCATTGGCGCCT	0.692000														38			12		0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049444	23049444	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:23049444C>T	uc003xda.3	-	9	1276	c.1170G>A	c.(1168-1170)acG>acA	p.T390T		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	390	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCTCATTTTTCGTGAGGTCCA	0.522000														40			29		0	0	1	0	0
RNASET2	8635	broad.mit.edu	37	6	167343184	167343184	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:167343184G>A	uc003qve.3	-	8	1070	c.663C>T	c.(661-663)tcC>tcT	p.S221S	RNASET2_uc003qvf.3_Silent_p.S129S	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	221					RNA catabolic process	extracellular region	RNA binding|ribonuclease T2 activity			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		CCTGCTTGGGGGACGGCTGCT	0.562000														151			110		0	0	1	0	0
NXPH3	11248	broad.mit.edu	37	17	47656441	47656441	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:47656441G>A	uc002ipa.3	+	1	822	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	180	V (Cys-rich).				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)					GATGGAGTGGGAGAAGGTAGA	0.602000														106			36		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124335454	124335454	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:124335454C>T	uc001uft.4	+	33	5793	c.5768C>T	c.(5767-5769)tCc>tTc	p.S1923F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1923	AAA 1 (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)		CAGGAGATTTCCCTGGACTCC	0.632000														31			15		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133547743	133547743	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:133547743G>A	uc002ttp.3	-	12	1319	c.945C>T	c.(943-945)tgC>tgT	p.C315C	NCKAP5_uc002ttq.3_Silent_p.C315C	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	315							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCAAGCCAGGGCATTTCAAGG	0.493000														18			8		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538936	55538936	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:55538936G>A	uc003xsd.1	+	3	2642	c.2494G>A	c.(2494-2496)Gat>Aat	p.D832N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	832					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAACCCAAAGATTTTTATGC	0.328000														69			5		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149558091	149558091	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:149558091C>T	uc010lpn.3	+	6	2034	c.1842C>T	c.(1840-1842)atC>atT	p.I614I		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGAGGGAGATCCTGGAGGACG	0.587000														29			16		0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779312	64779313	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:64779312_64779313CC>TT	uc002sdc.3	+	0	736_737	c.704_705CC>TT	c.(703-705)gcc>gTT	p.A235V	AFTPH_uc002scz.3_Missense_Mutation_p.A235V|AFTPH_uc002sda.3_Missense_Mutation_p.A235V|AFTPH_uc002sdb.3_Missense_Mutation_p.A235V	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	235					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GCAGATTTTGCCACATTTTCCA	0.356000														39			15		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86392944	86392944	+	Missense_Mutation	SNP	G	A	A	rs143666045		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:86392944G>A	uc003ydk.2	+	6	889	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	CA2_uc022axe.1_Non-coding_Transcript	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	237					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GGGTGAACCCGAAGAACTGAT	0.398000														105			17		0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28116278	28116278	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:28116278A>C	uc001msc.2	-	2	577	c.395T>G	c.(394-396)gTg>gGg	p.V132G		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	132	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TAGATACATCACTCCAGGTTC	0.403000														55			23		0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138417858	138417858	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:138417858T>C	uc011bmq.2	-	10	1661	c.1661A>G	c.(1660-1662)gAa>gGa	p.E554G	PIK3CB_uc011bmn.2_Missense_Mutation_p.E66G|PIK3CB_uc011bmo.2_5'UTR|PIK3CB_uc011bmp.2_Missense_Mutation_p.E141G	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	554	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor 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			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAGATCCATTTCATTTTCACA	0.383000														62			36		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039935	31039935	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:31039935G>A	uc002nsu.1	+	3	3547	c.3409G>A	c.(3409-3411)Gga>Aga	p.G1137R	ZNF536_uc010edd.1_Missense_Mutation_p.G1137R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGAGCCTGATGGAAAGGCCCA	0.517000														42			28		0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115828696	115828696	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:115828696C>T	uc021osd.1	-	0	721	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	NGF_uc001efu.1_Missense_Mutation_p.A241T	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	241					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GCAGGTCAGGCTCTTCTCACA	0.552000														38			36		0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67039259	67039259	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:67039259C>T	uc002eqv.3	+	9	1381	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	CES4A_uc010vix.2_Silent_p.F426F|CES4A_uc002eqw.3_Silent_p.F399F|CES4A_uc010viy.2_Silent_p.F332F|CES4A_uc002eqx.3_Silent_p.F232F|CES4A_uc002eqy.3_Silent_p.F328F	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	426						extracellular region	carboxylesterase activity	p.F399L(1)		large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ATGCCACTTTCGTGTATGCCA	0.532000														61			24		0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55722941	55722941	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:55722941G>A	uc002adc.3	-	9	1558	c.1190C>T	c.(1189-1191)cCa>cTa	p.P397L	CCPG1_uc002acy.3_Intron|CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Intron|DYX1C1_uc002adb.3_Intron|DYX1C1_uc002add.3_Missense_Mutation_p.H362Y	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	397					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TTTGTTGGATGGATCAATCTT	0.299000														40			16		0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33764077	33764077	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:33764077C>T	uc002xbt.3	+	2	613	c.429C>T	c.(427-429)ttC>ttT	p.F143F	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	143					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TTGTGAGTTTCCGGCCGGAGA	0.602000														140			43		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28914146	28914146	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr18:28914146G>A	uc002kwp.3	+	7	1198	c.986G>A	c.(985-987)gGa>gAa	p.G329E		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	329	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.G329*(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACAAATGTGGGAATTTTAAAG	0.274000														44			9		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113421156	113421156	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:113421156G>A	uc003ynu.3	-	32	5660	c.5501C>T	c.(5500-5502)tCc>tTc	p.S1834F	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Missense_Mutation_p.S1794F|CSMD3_uc011lhx.2_Missense_Mutation_p.S1730F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1834	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCTGAATGGGATCCTGAGAG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				163			33		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149583589	149583589	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:149583589C>T	uc003lrr.3	+	9	1691	c.1320C>T	c.(1318-1320)atC>atT	p.I440I		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	440						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGGGGCTGATCCTCACCACTG	0.597000														14			9		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252580	124252580	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:124252580G>A	uc010sai.2	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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)		TAGTGACAATGAAAACATAAG	0.413000														49			50		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074047	32074047	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:32074047C>T	uc003jhl.3	+	17	3223	c.2835C>T	c.(2833-2835)ctC>ctT	p.L945L	PDZD2_uc003jhm.3_Silent_p.L945L|PDZD2_uc011cnx.1_Silent_p.L771L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	945					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGCCAGTCTCCCCGGAAGCC	0.592000														81			38		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95757660	95757660	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:95757660C>T	uc003kls.2	-	5	783	c.544_splice	c.e5-1	p.D182_splice	PCSK1_uc021ybq.1_Splice_Site_p.D135_splice	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	182	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.D182N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCTCTGGATCCTAAAGAGAC	0.358000														33			25		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409901	19409901	+	RNA	SNP	A	G	G	rs61946303		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr13:19409901A>G	uc010tcj.1	-	0		c.36209T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CTTGTCTTACAGAACTTATCT	0.348000														38			3		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58121392	58121392	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:58121392G>A	uc002iyk.1	-	19	3095	c.3078C>T	c.(3076-3078)gtC>gtT	p.V1026V	MIR4737_uc021uba.1_5'Flank|HEATR6_uc010ddk.1_Silent_p.V565V|HEATR6_uc010wos.1_Silent_p.V746V	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	1026							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCTTCCCCGGGACGGAAAGGG	0.532000														116			29		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872992	36872992	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:36872992C>T	uc003cgj.3	-	20	8198	c.7950G>A	c.(7948-7950)atG>atA	p.M2650I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2650					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCAGTTCATCCATCTCATCCT	0.532000														18			6		0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100204225	100204225	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:100204225G>A	uc003uvo.3	+	5	1110	c.912G>A	c.(910-912)gaG>gaA	p.E304E	LOC100129845_uc011kjy.2_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	304		Cleavage.			multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AACCTCCGGAGAAAACAGAGG	0.597000														45			20		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	102998082	102998082	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:102998082C>T	uc002tbw.4	+	5	778	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	IL18R1_uc010ywd.2_Missense_Mutation_p.R55C|IL18R1_uc010fiy.3_Missense_Mutation_p.R210C|IL18R1_uc010ywc.2_Missense_Mutation_p.R210C	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	210	Ig-like C2-type 2.		R -> H (in dbSNP:rs11465635).		innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACTTCTAGATCGCAGTAATAT	0.328000														19			5		0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182766492	182766492	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:182766492G>A	uc002uoi.3	+	8	1035	c.713_splice	c.e8-1	p.S238_splice	SSFA2_uc002uoh.3_Splice_Site_p.S238_splice|SSFA2_uc002uoj.3_Splice_Site_p.S238_splice|SSFA2_uc002uok.3_Splice_Site|SSFA2_uc010zfo.2_Splice_Site_p.S85_splice|SSFA2_uc002uol.3_Splice_Site_p.S85_splice	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	238						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTTTTGGTAGGCCGTTTTCG	0.318000														52			5		0	0	1	0	0
KAAG1	353219	broad.mit.edu	37	6	24358078	24358078	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:24358078G>A	uc003ndz.1	+	0	948	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	DCDC2_uc003ndx.3_5'UTR|DCDC2_uc003ndy.3_Intron	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	Homo sapiens kidney associated antigen 1 (KAAG1), mRNA.	71					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						ATCGCCTCCTGAAACGAACGA	0.657000														66			25		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095234	69095234	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:69095234C>T	uc003hdw.4	-	8	823	c.687_splice	c.e8-1	p.K229_splice		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	229	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AATTATTTTTCCTAGAGGACA	0.323000														37			5		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149544995	149544996	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:149544995_149544996CC>TT	uc010lpn.3	+	3	605_606	c.413_414CC>TT	c.(412-414)tcc>tTT	p.S138F		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.R137Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AAGCCCCGGTCCATCCAGAAGT	0.559000														15			11		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126544706	126544706	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:126544706G>A	uc003vlr.2	-	2	1070	c.759C>T	c.(757-759)atC>atT	p.I253I	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I253I|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	253					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTTCACGTGGGATTTTCTGTG	0.388000										HNSCC(24;0.065)				55			42		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642539	57642539	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:57642539C>T	uc002qny.3	+	3	2852	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	USP29_uc021vci.1_Silent_p.I832I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	832					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.I832T(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGCCATATCGGGAGCTCCC	0.473000														43			9		0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41145988	41145988	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:41145988C>T	uc001zna.3	+	4	1026	c.822C>T	c.(820-822)atC>atT	p.I274I	SPINT1_uc001znb.3_Silent_p.I274I|SPINT1_uc001znc.3_Silent_p.I274I|SPINT1_uc010ucs.2_Silent_p.I274I	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	274	BPTI/Kunitz inhibitor 1.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGGAGCAGATCTGCAAGAGTT	0.562000														119			38		0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40464578	40464578	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:40464578G>A	uc003ckd.4	+	7	1161	c.1069G>A	c.(1069-1071)Ggg>Agg	p.G357R	ENTPD3_uc010hhy.3_Missense_Mutation_p.G357R|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	357						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TTCTTTTGATGGGGTTTATCA	0.403000														42			53		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034487	79034487	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:79034487G>A	uc003kgc.3	+	1	9971	c.9899G>A	c.(9898-9900)gGt>gAt	p.G3300D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3300						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAACAGAAAGGTGTTTATGGG	0.478000														108			30		0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175742627	175742627	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:175742627G>A	uc002uji.3	-	5	831	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	CHN1_uc010zeq.2_Silent_p.L164L|CHN1_uc002ujj.3_Intron	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	164					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GTCTCTTTCAGGACTGGCATA	0.413000			T	TAF15	extraskeletal myxoid chondrosarcoma									58			26		0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000														10			4		0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506466	107506466	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:107506466C>T	uc010rvs.2	+	5	799	c.395C>T	c.(394-396)cCc>cTc	p.P132L	ELMOD1_uc001pjm.3_Missense_Mutation_p.P132L|ELMOD1_uc010rvt.2_Missense_Mutation_p.P126L	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	132					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TCTGATAATCCCCAACATGAA	0.458000														21			4		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46996743	46996743	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:46996743C>A	uc003oyt.3	-	1	254	c.55G>T	c.(55-57)Ggt>Tgt	p.G19C	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.G19C	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	19					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGAAGCCACCGTGGCCGTCA	0.512000														66			52		3.76343e-11	3.84945e-11	1	1	0
SLC6A11	6538	broad.mit.edu	37	3	10971013	10971013	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:10971013G>A	uc003bvz.3	+	9	1393	c.1359G>A	c.(1357-1359)gtG>gtA	p.V453V		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	453					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V453M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGGGCCTCGTGATGTTAACAG	0.582000														147			18		0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19753283	19753283	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:19753283C>T	uc002zqa.1	+	6	972	c.843C>T	c.(841-843)atC>atT	p.I281I	TBX1_uc002zqb.3_Silent_p.I281I|TBX1_uc002zqc.3_Silent_p.I281I	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	281					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R280L(1)		breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCCTGCAGATCACGCAGCTCA	0.647000														21			23		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22962274	22962274	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr15:22962274A>G	uc001yus.3	+	18	2206	c.2102A>G	c.(2101-2103)cAa>cGa	p.Q701R	CYFIP1_uc001yut.3_Missense_Mutation_p.Q701R|CYFIP1_uc010aya.1_Missense_Mutation_p.Q729R|CYFIP1_uc001yuu.3_Missense_Mutation_p.Q270R	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	701					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGTTTTGACCAATTTGTTTAC	0.343000														40			29		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116061163	116061163	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:116061163G>A	uc001lbn.3	-	12	1793	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	AFAP1L2_uc001lbo.3_Missense_Mutation_p.R498C|AFAP1L2_uc010qse.2_Missense_Mutation_p.R551C|AFAP1L2_uc001lbp.3_Missense_Mutation_p.R526C|AFAP1L2_uc001lbr.1_Missense_Mutation_p.R498C|AFAP1L2_uc001lbm.3_Missense_Mutation_p.R20C|AFAP1L2_uc010qsd.2_Missense_Mutation_p.R64C|AFAP1L2_uc001lbq.1_Missense_Mutation_p.R20C	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	498					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			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)		TCCTCCTGGCGGTCCTGGCTA	0.617000														19			22		0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242690671	242690671	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:242690671T>A	uc002wce.1	+	7	1181	c.1008T>A	c.(1006-1008)ttT>ttA	p.F336L	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.F202L|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.3_Intron|D2HGDH_uc002wci.2_Missense_Mutation_p.F35L	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	336					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		AGAGTCCGTTTTACGTCCTCA	0.602000														86			20		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66430759	66430760	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:66430759_66430760GG>AA	uc003dmx.3	-	18	3223_3224	c.3209_3210CC>TT	c.(3208-3210)ccc>cTT	p.P1070L	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_Missense_Mutation_p.P690L|LRIG1_uc003dmw.3_Missense_Mutation_p.P736L|LRIG1_uc010hnz.3_Missense_Mutation_p.P786L|LRIG1_uc010hoa.3_Missense_Mutation_p.P1047L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	1070						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCGTGGACTCGGGACTGGCGTC	0.554000														116			17		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14312829	14312829	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:14312829C>T	uc010uza.2	+	7	822	c.667C>T	c.(667-669)Cct>Tct	p.P223S	MKL2_uc002dcg.3_Missense_Mutation_p.P223S|MKL2_uc002dch.3_Missense_Mutation_p.P212S|MKL2_uc010uzb.2_Missense_Mutation_p.P172S	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	212					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						ATCGCCATCTCCTGTGACTAC	0.463000														48			4		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024698	16024698	+	Silent	SNP	G	A	A	rs149231661		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:16024698G>A	uc002nbu.2	-	12	1455	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	CYP4F11_uc010eab.1_Missense_Mutation_p.R452C|CYP4F11_uc002nbt.2_Silent_p.F473F	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	473					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						CAGCCATGGCGAACGCCTGCC	0.612000														31			21		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551975	100551975	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:100551975C>T	uc003uxl.1	+	0	1226	c.426C>T	c.(424-426)atC>atT	p.I142I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;									p.G142W(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCACTATTATCATGTCCTCTT	0.413000														760			124		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39486953	39486953	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:39486953G>A	uc003xni.3	+	6	638	c.583G>A	c.(583-585)Gct>Act	p.A195T	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.A195T	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	195	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGTGGAAAAAGCTTTGGTAAG	0.318000														17			6		0	0	1	0	0
PTRHD1	391356	broad.mit.edu	37	2	25016004	25016004	+	Silent	SNP	C	T	T	rs147683338		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:25016004C>T	uc002rfm.3	-	0	248	c.243G>A	c.(241-243)gtG>gtA	p.V81V	CENPO_uc002rfp.2_5'Flank|CENPO_uc002rfq.2_5'Flank	NM_001013663	NP_001013685	Q6GMV3	PTRD1_HUMAN	Homo sapiens peptidyl-tRNA hydrolase domain containing 1 (PTRHD1), mRNA.	81					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						CCTCGAGGACCACTTTGCGCA	0.682000														31			17		0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	G	G			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:16285497A>G	uc002gpx.3	+	1	414	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_uc010vwe.1_Intron|UBB_uc021tqs.1_Silent_p.E92E	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	92	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E92E(4)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557000														122			4		0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	782347	782347	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:782347C>T	uc002cjr.3	-	7	862	c.850G>A	c.(850-852)Gag>Aag	p.E284K	NARFL_uc002cjp.3_Missense_Mutation_p.E182K|NARFL_uc002cjq.3_Missense_Mutation_p.E182K|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010uuq.1_Silent_p.K92K	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	284					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GAGACGCCCTCTTCCTCCAGC	0.537000														168			73		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7242713	7242713	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:7242713G>A	uc010sfy.2	-	2	422	c.363C>T	c.(361-363)tcC>tcT	p.S121S	C1R_uc010sfz.1_Silent_p.S135S|C1R_uc021quh.1_Silent_p.S10S|C1R_uc010sga.1_Silent_p.S87S	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	121	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTCCTCGTTGGAGAAGTCTG	0.547000														17			9		0	0	1	0	0
LOC494141	494141	broad.mit.edu	37	11	18231460	18231460	+	RNA	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:18231460G>A	uc009yhh.3	+	1		c.484G>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.																		AGTTGAGAACGGATGGATTTC	0.448000														17			27		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90385232	90385232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:90385232G>A	uc003pnn.1	-	77	12828	c.12712C>T	c.(12712-12714)Cga>Tga	p.R4238*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4238					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.R4238Q(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CGCCGCTGTCGGACGAGCATC	0.532000														37			27		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88391839	88391839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:88391839C>T	uc001tam.1	-	3	430	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	C12orf50_uc001tan.3_Missense_Mutation_p.E142K	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	88										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TCCTCTTCTTCCTCAAAATTA	0.348000														15			7		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161920	41161920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:41161920G>A	uc003jmk.2	-	9	1543	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	C6_uc003jml.1_Nonsense_Mutation_p.R445*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	445	MACPF.				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)				CTTCCACCTCGAATCAGGGAT	0.413000														92			9		0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23876823	23876823	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:23876823G>A	uc004dax.3	-	5	654	c.416C>T	c.(415-417)cCg>cTg	p.P139L	APOO_uc004day.4_Non-coding_Transcript	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.	139					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GAAACCAGGCGGATACACTAG	0.403000														21			30		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478758	14478758	+	RNA	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr18:14478758G>A	uc010xai.2	-	2		c.806C>T								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		TACTGTAATGGAAGTGAACCT	0.348000														19			3		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207890896	207890896	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:207890896C>T	uc001hga.4	+	10	1623	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	501	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAAGAAGTATCTTACACATGT	0.483000														154			32		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214184	140214184	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:140214184G>A	uc003lhq.2	+	0	216	c.216G>A	c.(214-216)ggG>ggA	p.G72G	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_uc011dac.2_Silent_p.G72G	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	87	Cadherin 1.				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)			AATTCCGTGGGGATCTTCTGG	0.617000														147			112		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003504	166003504	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:166003504G>A	uc002ucx.3	-	11	1908	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	SCN3A_uc002ucy.3_Silent_p.F472F|SCN3A_uc002ucz.3_Silent_p.F472F|SCN3A_uc002uda.1_Silent_p.F341F|SCN3A_uc002udb.1_Silent_p.F341F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	472						voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CTATTCCACTGAAATCTCTTG	0.423000														54			47		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24879218	24879218	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:24879218C>T	uc001wpf.4	+	3	2536	c.2218C>T	c.(2218-2220)Cag>Tag	p.Q740*		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	740					DNA integration	integral to membrane	DNA binding	p.F739C(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCACCAGTTTCAGATGGAGGG	0.632000														25			4		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121348916	121348916	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:121348916C>T	uc001pxx.3	+	2	621	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	164					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAGCTGTTATCGCCCAGTTCT	0.478000														20			4		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2049600	2049600	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:2049600G>A	uc002cof.1	-	10	1965	c.1950C>T	c.(1948-1950)ccC>ccT	p.P650P	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Silent_p.P14P	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	650	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGAGCCCAGGGGGTTCCTTGG	0.736000														26			24		0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19707891	19707891	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:19707891C>T	uc002zpv.2	+	5	536	c.411C>T	c.(409-411)ttC>ttT	p.F137F	SEPT5_uc002zpw.1_Silent_p.F146F|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	137					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGCAGTACTTCCGTGATGAGA	0.597000														51			46		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278424	114278424	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:114278424G>A	uc003ibe.4	+	37	8750	c.8650G>A	c.(8650-8652)Gag>Aag	p.E2884K	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.E2899K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2851					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAACATTTGAGAACTTACC	0.393000														162			6		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011054	105011054	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chrX:105011054C>T	uc004elz.1	+	10	2217	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	487	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAGTATTTTCGAACTGGAAA	0.388000														22			39		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234148	103234148	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:103234148C>T	uc022ajr.1	-	26	4053	c.3893G>A	c.(3892-3894)gGa>gAa	p.G1298E	RELN_uc022ajq.1_Missense_Mutation_p.G1298E|RELN_uc010liz.3_Missense_Mutation_p.G1298E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1298					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)		TAGCACATATCCAGGTTTCAG	0.393000														77			35		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115614259	115614259	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr7:115614259C>T	uc003vhj.2	-	2	485	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	TFEC_uc003vhk.2_Intron|TFEC_uc003vhl.4_Intron|TFEC_uc011kmw.2_Missense_Mutation_p.E168K	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	78	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.E77V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCTGCTCCTTCCTCTTTAAAA	0.328000														32			19		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055069	40055069	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:40055069G>A	uc003ayc.3	+	11	2278	c.2278G>A	c.(2278-2280)Gac>Aac	p.D760N	CACNA1I_uc003ayd.3_Missense_Mutation_p.D725N|CACNA1I_uc003aye.3_Missense_Mutation_p.D675N|CACNA1I_uc003ayf.3_Missense_Mutation_p.D640N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	760					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GAAGACCATGGACAACGTGGC	0.627000														80			6		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124393214	124393214	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:124393214G>A	uc003ehg.3	+	48	7073	c.6946G>A	c.(6946-6948)Gac>Aac	p.D2316N	KALRN_uc003ehi.3_Missense_Mutation_p.D656N|KALRN_uc003ehk.3_Missense_Mutation_p.D619N|KALRN_uc011bjz.2_Missense_Mutation_p.D407N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2315					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCAGCAGAACGACCTGGGAGG	0.537000														60			58		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801109	9801109	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:9801109C>T	uc021uop.1	-	5	1716	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	ZNF812_uc010xkx.2_Missense_Mutation_p.G253E	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGGCTTCTCTCCTGTGTGAAT	0.393000														28			23		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355166	70355166	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:70355166G>A	uc003hek.4	-	2	1040	c.993C>T	c.(991-993)atC>atT	p.I331I	UGT2B4_uc011cap.2_Silent_p.I195I|UGT2B4_uc003hel.4_Silent_p.I331I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	331					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.I331V(1)		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						CCTTTTGTGGGATCTTGGCAA	0.398000														103			28		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129290539	129290539	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:129290539G>A	uc003emx.2	-	15	3326	c.3226C>T	c.(3226-3228)Ccc>Tcc	p.P1076S		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1076	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTGCGGCGGGGACTGATGGCC	0.667000														58			75		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6204140	6204140	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:6204140G>A	uc001amb.2	-	11	1989	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	626	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGATGTCATCGATCTCCCAGG	0.592000														79			69		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090186	9090186	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:9090186C>T	uc002mkp.3	-	0	1833	c.1629G>A	c.(1627-1629)atG>atA	p.M543I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	543	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						TCTCTGTTTTCATGCTAGGAC	0.532000														51			20		0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35719109	35719109	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:35719109C>T	uc003ann.3	+	3	430	c.305C>T	c.(304-306)aCc>aTc	p.T102I	TOM1_uc011ami.2_Missense_Mutation_p.T69I|TOM1_uc003anp.3_Missense_Mutation_p.T102I|TOM1_uc011aml.2_Missense_Mutation_p.T102I|TOM1_uc011amk.2_Missense_Mutation_p.T64I|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_5'UTR	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	102	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CTGGTGAGGACCATCCTGCCC	0.607000														30			49		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488439	108488439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:108488439G>A	uc010ywk.2	+	19	4061	c.3979G>A	c.(3979-3981)Gaa>Aaa	p.E1327K	RGPD4_uc002tdu.3_Missense_Mutation_p.E514K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1327					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGTTACTCAAGAAGAAGAGAG	0.393000														137			116		0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164506934	164506934	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:164506934G>A	uc003iqs.2	-	5	572	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MARCH1_uc003iqr.2_Silent_p.F113F	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	130					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.F113F(1)|p.F130F(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCCATTATGAAGTCATACT	0.493000														66			6		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123475205	123475205	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:123475205G>A	uc001uej.1	-	15	2655	c.2456C>T	c.(2455-2457)tCc>tTc	p.S819F	PITPNM2_uc001uek.1_Missense_Mutation_p.S867F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	819	DDHD.				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)		GCCCGGCGAGGAGGGGGCGCC	0.662000														43			18		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22304895	22304895	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:22304895C>T	uc001bfk.3	+	1	192	c.77C>T	c.(76-78)tCc>tTc	p.S26F	CELA3B_uc009vqf.3_Missense_Mutation_p.S25F	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	26					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCTCGCCCTTCCAGCCGCGTT	0.627000														35			20		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61648531	61648531	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:61648531C>T	uc003jsy.4	+	4	762	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	KIF2A_uc003jsz.4_Missense_Mutation_p.P151S|KIF2A_uc003jsx.4_Missense_Mutation_p.P131S|KIF2A_uc010iwp.3_Intron|KIF2A_uc010iwq.3_5'UTR	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	151	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GGAATTTGGACCCCCTTGTAT	0.388000														11			5		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332756	70332756	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:70332756G>A	uc001oqc.3	-	20	3556	c.3444C>T	c.(3442-3444)tcC>tcT	p.S1148S	SHANK2_uc010rqn.2_Silent_p.S624S|SHANK2_uc001opz.3_Silent_p.S619S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	835					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGCCAGCGGGGAGCTGGGAT	0.667000														34			40		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78225183	78225183	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:78225183C>T	uc002jyb.2	+	16	2018	c.1712C>T	c.(1711-1713)tCt>tTt	p.S571F	SLC26A11_uc002jyc.2_Missense_Mutation_p.S571F|SLC26A11_uc002jyd.2_Missense_Mutation_p.S571F|SLC26A11_uc010dhv.2_Missense_Mutation_p.S571F	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	571	STAS.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGTACTTCTCTACCCTGGAA	0.488000														68			29		0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28750652	28750652	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr13:28750652C>T	uc001urz.3	+	2	727	c.575C>T	c.(574-576)tCc>tTc	p.S192F	PAN3_uc010tdo.1_Missense_Mutation_p.S192F|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.S46F	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	192	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGTAGCAGCTCCCCAAGCCTT	0.358000														29			50		0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118511787	118511787	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:118511787G>A	uc001tws.3	-	4	1270	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	312	Ig-like C2-type 4.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGAGAGAAGGGAGGGACCCC	0.502000														44			14		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55962486	55962486	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr4:55962486G>A	uc003has.3	-	18	2940	c.2638C>T	c.(2638-2640)Cga>Tga	p.R880*	KDR_uc003hat.1_Nonsense_Mutation_p.R880*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	880	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|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)	ATGAGAGCTCGATGCTCACTG	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				15			23		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63417109	63417109	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:63417109C>T	uc001xfx.3	-	6	1162	c.1111G>A	c.(1111-1113)Gga>Aga	p.G371R	KCNH5_uc001xfy.3_Missense_Mutation_p.G371R|KCNH5_uc001xfz.1_Missense_Mutation_p.G313R|KCNH5_uc001xga.3_Missense_Mutation_p.G313R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	371					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)		TCGTAGTCTCCGATGCTATAC	0.502000														65			17		0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725159	66725159	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:66725159C>T	uc001sti.2	+	11	2924	c.2896C>T	c.(2896-2898)Ccg>Tcg	p.P966S	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	966			P -> L (in dbSNP:rs1185244).		DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGCAGATTTTCCGTCCCCACG	0.502000														44			32		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193031915	193031915	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr3:193031915C>T	uc011bsq.2	-	18	2226	c.2226G>A	c.(2224-2226)gtG>gtA	p.V742V		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	742					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)		CAACAATGATCACTTGGCTGC	0.468000														49			68		0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	69056765	69056765	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:69056765C>T	uc002ewi.4	+	15	2889	c.2877C>T	c.(2875-2877)atC>atT	p.I959I		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	959						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)		AACCTTTGATCCATACCTTCC	0.468000														6			4		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21887684	21887684	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:21887684C>T	uc001bet.3	+	3	533	c.276C>T	c.(274-276)ttC>ttT	p.F92F	ALPL_uc010odo.2_Silent_p.F37F|ALPL_uc010odp.2_Intron|ALPL_uc010odn.2_Silent_p.F40F|ALPL_uc001beu.4_Silent_p.F92F	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	92					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	TGGACAAGTTCCCCTTCGTGG	0.597000														13			5		0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409612	17409612	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:17409612G>A	uc001mna.3	-	0	595	c.27C>T	c.(25-27)ccC>ccT	p.P9P	KCNJ11_uc001mnb.4_Intron	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	0						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CGTATTCCTCGGGGATGATGC	0.672000														91			4		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215802250	215802250	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:215802250G>A	uc002vew.3	-	50	7746	c.7526C>T	c.(7525-7527)cCa>cTa	p.P2509L	ABCA12_uc002vev.3_Missense_Mutation_p.P2191L|ABCA12_uc010zjn.2_Missense_Mutation_p.P1436L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2509					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)		GTATGTTTTTGGAAAGTGCAG	0.458000														42			10		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	33647492	33647492	+	RNA	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:33647492G>A	uc010vga.2	-	0		c.51C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		ACAGTCTCAGGGACCCCCCAG	0.572000														175			32		0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	11999176	11999176	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr18:11999176C>T	uc002kqp.2	+	1	462	c.220C>T	c.(220-222)Cct>Tct	p.P74S	IMPA2_uc010dlb.2_5'UTR|IMPA2_uc021uhq.1_5'UTR	NM_014214	NP_055029	O14732	IMPA2_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2), mRNA.	74					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	AGAGAGGTTTCCTTCACACAG	0.493000														32			56		0	0	1	0	0
C17orf103	256302	broad.mit.edu	37	17	21147471	21147471	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:21147471G>A	uc010vzx.2	-	2	172	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_152914	NP_690878	Q8N6N6	GTL3B_HUMAN	Homo sapiens chromosome 17 open reading frame 103 (C17orf103), mRNA.	58										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGGGACCTCGGTGTGCTGCAG	0.647000														28			20		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20648307	20648307	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:20648307C>T	uc001mqd.3	+	7	1587	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	SLC6A5_uc009yic.3_Silent_p.I203I	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	438					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCCTCCTCATCCGAGGAGTCA	0.562000														33			56		0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40370239	40370239	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:40370239G>A	uc002hzh.3	-	8	1268	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	STAT5B_uc002hzi.3_Missense_Mutation_p.P367S	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	367					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TTCACCTGGGGGGGGTTCATG	0.577000														45			14		0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109201509	109201509	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:109201509C>T	uc001tnm.3	-	7	718	c.631G>A	c.(631-633)Gag>Aag	p.E211K	SSH1_uc001tnl.3_5'Flank|SSH1_uc010sxg.2_Missense_Mutation_p.E222K|SSH1_uc001tnn.4_Missense_Mutation_p.E211K|SSH1_uc001tno.1_Missense_Mutation_p.E115K	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	211					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGCAGCTCTCATAGTAGGTA	0.617000														112			8		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10973727	10973727	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr21:10973727C>T	uc002yip.1	-	3	375	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E3K|TPTE_uc002yir.1_Missense_Mutation_p.E3K|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	3					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTCACCTTTCATTCATACGT	0.373000														67			12		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398350	10398350	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:10398350C>T	uc002gmo.3	-	36	5458	c.5364G>A	c.(5362-5364)aaG>aaA	p.K1788K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1788						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTCCAGGTTCTTCTTCATCC	0.542000														137			47		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42204018	42204018	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:42204018G>A	uc003ose.2	-	15	3614	c.3051C>T	c.(3049-3051)ccC>ccT	p.P1017P	TRERF1_uc011duq.1_Silent_p.P914P|TRERF1_uc003osb.2_Silent_p.P753P|TRERF1_uc003osc.2_Silent_p.P753P|TRERF1_uc003osd.2_Silent_p.P997P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	997	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)			GCCCCTCCGTGGGAGCCAGGA	0.627000														21			10		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444089	49444089	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:49444089G>A	uc001rta.4	-	10	3282	c.3282C>T	c.(3280-3282)ctC>ctT	p.L1094L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1094	Pro-rich.				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						TTGGGGAAGGGAGAGGACTGG	0.612000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				16			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179637853	179637853	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr2:179637853C>T	uc021vsy.1	-	32	8063	c.7838G>A	c.(7837-7839)gGa>gAa	p.G2613E	TTN_uc021vsz.1_Missense_Mutation_p.G2567E|TTN_uc021vta.1_Missense_Mutation_p.G2567E|TTN_uc021vtb.1_Missense_Mutation_p.G2567E|TTN_uc002unb.2_Missense_Mutation_p.G2613E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2613							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)			AGTAAGTTTTCCAGATGTCAT	0.299000														46			21		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196927145	196927145	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:196927145G>A	uc001gtq.1	+	3	632	c.555G>A	c.(553-555)gaG>gaA	p.E185E	CFHR2_uc001gtr.1_Silent_p.E61E	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	185	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						ATCAACTTGAGGGTAACAATC	0.388000														62			88		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62235071	62235071	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr1:62235071C>T	uc001dab.3	+	4	615	c.501C>T	c.(499-501)gtC>gtT	p.V167V	INADL_uc009waf.1_Silent_p.V167V|INADL_uc001daa.2_Silent_p.V167V|INADL_uc001dad.3_5'Flank	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	167	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGAAGGATGTCCAGCCAGGGA	0.403000														79			48		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918195	51918195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:51918195C>T	uc002pwo.3	-	7	1720	c.1498G>A	c.(1498-1500)Ggg>Agg	p.G500R	SIGLEC10_uc002pwp.3_Missense_Mutation_p.G442R|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	500					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCCCAGGGCCCGGCTGAGCTG	0.701000														37			32		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642767	57642767	+	Silent	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:57642767C>T	uc002qny.3	+	3	3080	c.2724C>T	c.(2722-2724)atC>atT	p.I908I	USP29_uc021vci.1_Silent_p.I908I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	908					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGGGGTGATCCCTCAGGGGG	0.473000														65			31		0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656649	656649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:656649G>A	uc003mtg.3	-	0	316	c.296C>T	c.(295-297)tCc>tTc	p.S99F	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	99										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CAGCTTCAGGGAGGACGCGCC	0.682000														15			19		0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579070	49579070	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:49579070G>A	uc009zlf.3	-	3	1351	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	TUBA1A_uc001rtp.3_Missense_Mutation_p.P360L	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	360					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						CACCACAGTGGGAGGCTGGTA	0.577000														24			26		0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691282	44691282	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:44691282G>A	uc002xrd.3	-	6	1925	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.S466F	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	466	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGCTGTGGAAAAATTCTG	0.542000														248			30		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47076519	47076519	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr17:47076519C>T	uc002iom.3	+	1	558	c.224C>T	c.(223-225)cCc>cTc	p.P75L	IGF2BP1_uc010dbj.3_Missense_Mutation_p.P75L	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	75	RRM 1.				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						CATTCGGTGCCCAAAAAACAA	0.493000														33			20		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903151	5903151	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr20:5903151G>A	uc002wmg.3	+	3	667	c.361G>A	c.(361-363)Gag>Aag	p.E121K	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	121						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGCAGACACAGAGAAATGGGC	0.627000														10			13		0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73979628	73979628	+	Missense_Mutation	SNP	C	T	T	rs149127771	by1000genomes	TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr8:73979628C>T	uc003xzf.3	-	4	948	c.743G>A	c.(742-744)cGg>cAg	p.R248Q		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	248					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										GTCTACTCGCCGAACTTTTTT	0.343000														79			6		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569009	55569009	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:55569009C>T	uc021pqw.1	-	35	5205	c.4810G>A	c.(4810-4812)Gaa>Aaa	p.E1604K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1599K|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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			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)				CTGGAGGATTCCTCCTCTGAT	0.453000										HNSCC(58;0.16)				10			13		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757842	62757842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:62757842C>T	uc003peg.2	-	2	524	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	93	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTGTTTCTTCCTGTAGCCTC	0.373000														60			14		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75964575	75964575	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:75964575A>C	uc003kek.3	+	22	2971	c.2749A>C	c.(2749-2751)Act>Cct	p.T917P	IQGAP2_uc010izv.2_Missense_Mutation_p.T470P|IQGAP2_uc011csv.2_Missense_Mutation_p.T413P|IQGAP2_uc003kel.3_Missense_Mutation_p.T413P	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	917	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATTTATGGATACTGTTATTTT	0.338000														23			8		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909484	123909484	+	Silent	SNP	C	T	T	rs138227924		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr11:123909484C>T	uc001pzq.1	-	0	225	c.225G>A	c.(223-225)acG>acA	p.T75T		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V74A(1)|p.V74L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		TTTTGGGCACCGTGACAGTGG	0.537000														108			30		0	0	1	0	0
GMCL1P1	64396	broad.mit.edu	37	5	177612937	177612937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr5:177612937C>T	uc003mit.1	-	0	1497	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		CAAGCGTAATCTAAATGCTAT	0.398000														28			17		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	815580	815580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:815580C>T	uc002cjw.2	+	8	869	c.758C>T	c.(757-759)cCc>cTc	p.P253L	MSLN_uc002cju.1_Missense_Mutation_p.P253L|MSLN_uc002cjt.1_Missense_Mutation_p.P253L|MSLN_uc010brd.1_Missense_Mutation_p.P252L|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	253					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCCTGCTGCCCGTGCTGGGC	0.711000														35			9		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903752	54903752	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:54903752C>T	uc001sgc.4	+	6	797	c.718C>T	c.(718-720)Cct>Tct	p.P240S	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.P190S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	240					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CATGATTAACCCTGCTAATTC	0.493000														77			49		0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88566395	88566395	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr12:88566395C>T	uc001tau.3	+	7	1292	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	358						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AATGGCATTACCATTTATTCC	0.299000														47			29		0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446650	85446650	+	Missense_Mutation	SNP	G	A	A	rs149453199		TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr6:85446650G>A	uc003pkl.1	-	7	1577	c.1577C>T	c.(1576-1578)cCc>cTc	p.P526L	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	526					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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)		TAGTGCACAGGGGCTGTGTAA	0.493000														148			35		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072151	17072151	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr22:17072151C>A	uc002zlp.1	-	0	1550	c.1290G>T	c.(1288-1290)ttG>ttT	p.L430F		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	430					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.R429K(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGGCCCTTCCAATCTGCTTC	0.493000														104			23		2.89027e-11	2.96056e-11	1	1	0
IGHE	3497	broad.mit.edu	37	14	106067895	106067895	+	Silent	SNP	G	A	A			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr14:106067895G>A	uc001yrw.1	-	1	225	c.213C>T	c.(211-213)gcC>gcT	p.A71A	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.A18A|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		TGAGGGTGGTGGCTGGTAAGG	0.627000														87			12		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971122	21971123	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:21971122_21971123insT	uc003zpk.3	-	1	541_542	c.235_236insA	c.(235-237)accfs	p.T79fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Ins_p.T79fs|CDKN2A_uc003zpl.3_Frame_Shift_Ins_p.H93fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	79					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L78fs*41(18)|p.T79I(4)|p.T79fs*37(2)|p.T79fs*65(2)|p.T79fs*41(2)|p.E61_L94del(2)|p.L65fs*38(1)|p.0(1)|p.L78fs*68(1)|p.A76fs*64(1)|p.L78fs*67(1)|p.A68fs*3(1)|p.T79T(1)|p.L78H(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACGGGTCGGGTGAGAGTGGCG	0.728		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	19	---	---	36	---					
GPR107	57720	broad.mit.edu	37	9	132839657	132839660	+	Splice_Site	DEL	AGTA	-	-			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr9:132839657_132839660delAGTA	uc004bze.2	+	4	613	c.386_splice	c.e4+1	p.E129_splice	GPR107_uc004bzb.2_Intron|GPR107_uc011mbx.1_Splice_Site_p.E129_splice|GPR107_uc004bzd.2_Splice_Site_p.E129_splice	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	129						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TCCAGAAGTGAGTAAGTAATTCTA	0.412													---	46	---	---	9	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	-	-			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr10:30316501_30316503delCTG	uc009xle.2	-	2	2711_2713	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S	KIAA1462_uc001iux.3_In_Frame_Del_p.858_859SS>S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_In_Frame_Del_p.720_721SS>S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	858	Ser-rich.									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						ACTCTCCTCActgctgctgctgc	0.571													---	95	---	---	7	---					
PMM2	5373	broad.mit.edu	37	16	8904969	8904969	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr16:8904969delA	uc002czf.4	+	4	451	c.381delA	c.(379-381)ttafs	p.L127fs	PMM2_uc010uyf.2_Intron|PMM2_uc010uyg.2_Frame_Shift_Del_p.L44fs|PMM2_uc010uyh.2_Frame_Shift_Del_p.L2fs|PMM2_uc010buj.3_Intron|PMM2_uc010uyi.2_Intron	NM_000303	NP_000294	O15305	PMM2_HUMAN	Homo sapiens phosphomannomutase 2 (PMM2), mRNA.	127					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATGGGATGTTAAACGTGTCCC	0.408													---	4	---	---	2	---					
NOTCH3	4854	broad.mit.edu	37	19	15303285	15303285	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A5GN-06A-11D-A27K-08	TCGA-D3-A5GN-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8715150d-bd53-413a-b69e-1e8402bb6f51	25e1a5a6-ca70-4f0f-87d9-be8c09a0e194	g.chr19:15303285delG	uc002nan.3	-	2	319	c.243delC	c.(241-243)cccfs	p.P81fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.P81fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	81	EGF-like 2.		Missing (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTGAGTGACAGGGGTCCTCCA	0.677													---	16	---	---	9	---					
