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
GMCL1P1	64396	broad.mit.edu	37	5	177613781	177613781	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:177613781C>T	uc003mit.1	-	0	653	c.520G>A	c.(520-522)Gtc>Atc	p.V174I						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		TTTATCAAGACATCATCTCGA	0.438000														38			30		0	0	0.00106085	0	0
GPR137	56834	broad.mit.edu	37	11	64056722	64056722	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr11:64056722C>T	uc010rni.2	+	8	1341	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P380L|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	380						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CACCCTAGGCCCCTGTGCCAA	0.647000														27			30		0	0	0.000227799	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	T	T	rs144465613	byFrequency	TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr14:23887583C>T	uc001wjx.3	-	29	4111	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(6)|p.S1335L(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000														33			6		0	0	0.000442599	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135254135	135254135	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:135254135T>C	uc003qew.3	-	4	697	c.628A>G	c.(628-630)Acc>Gcc	p.T210A	ALDH8A1_uc011ecx.2_Missense_Mutation_p.T160A|ALDH8A1_uc003qex.3_Missense_Mutation_p.T210A|ALDH8A1_uc010kgh.3_Missense_Mutation_p.T42A	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	210					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CTGGGCCCGGTTCCAAACACA	0.542000														24			18		0	0	0.000175454	0	0
XIRP2	129446	broad.mit.edu	37	2	168105430	168105430	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:168105430C>T	uc002udx.3	+	8	7617	c.7528C>T	c.(7528-7530)Ccc>Tcc	p.P2510S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2335S|XIRP2_uc010fpq.3_Missense_Mutation_p.P2288S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2335					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						AACTTCAGCACCCAGGAAAAA	0.368000														40			31		0	0	0.000692331	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928048	31928049	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:31928048_31928049CC>TT	uc003nyn.1	+	3	677_678	c.288_289CC>TT	c.(286-291)gcccca>gcTTca	p.P97S	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	97						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCCTGGGAGCCCCAGTCCCATC	0.520000														397			95		0	0	6.4e-05	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457825	5457825	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:5457825C>T	uc003jdm.4	+	11	1294	c.1072C>T	c.(1072-1074)Ccg>Tcg	p.P358S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	358	Pro-rich.							p.P358Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATCACCTCACCCGGGTTCCTT	0.458000														150			96		0	0	0.000781405	0	0
SYCE1	93426	broad.mit.edu	37	10	135368926	135368926	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:135368926C>T	uc001lno.2	-	11	952	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.E155K|SYCE1_uc009ybn.2_Missense_Mutation_p.E283K|SYCE1_uc001lnn.2_Missense_Mutation_p.E247K	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	283	Gln-rich.				cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCATGCTTTTCCAGCTCTTCC	0.562000														22			31		0	0	0.000409698	0	0
GMEB2	26205	broad.mit.edu	37	20	62236122	62236122	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:62236122G>A	uc002yfp.1	-	1	682	c.203C>T	c.(202-204)tCc>tTc	p.S68F	GMEB2_uc002yfo.1_5'UTR|GMEB2_uc002yfq.1_Missense_Mutation_p.S68F	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	68					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GAGCTGGGAGGAGGCTGTGAA	0.572000														92			33		0	0	0.000692331	0	0
BRD2	6046	broad.mit.edu	37	6	32945938	32945938	+	Silent	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:32945938C>T	uc010juh.3	+	8	2918	c.1614C>T	c.(1612-1614)tcC>tcT	p.S538S	BRD2_uc003ocn.4_Silent_p.S538S|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Silent_p.S418S|BRD2_uc003ocq.4_Silent_p.S538S|BRD2_uc021ywf.1_Silent_p.S491S	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	538					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTGCTCTGTCCCAGGGTCCAA	0.418000														39			18		0	0	0.00074312	0	0
MUC17	140453	broad.mit.edu	37	7	100693870	100693870	+	Silent	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:100693870C>T	uc003uxp.1	+	6	12881	c.12828C>T	c.(12826-12828)atC>atT	p.I4276I	MUC17_uc010lho.1_Intron	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4276	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGAGAAAATCACAAAAGTGA	0.473000														29			66		0	0	0.000781405	0	0
CHIT1	1118	broad.mit.edu	37	1	203188818	203188818	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:203188818C>T	uc001gzn.2	-	7	985	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Missense_Mutation_p.E88K|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.E288K	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	297					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						ATCCCTCCTTCCTTGGTGAAG	0.587000														61			22		0	0	0.000720815	0	0
ALDH1A1	216	broad.mit.edu	37	9	75524517	75524517	+	Splice_Site	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr9:75524517C>T	uc004ajd.3	-	11	1675	c.1358_splice	c.e11+1	p.W453_splice	ALDH1A1_uc011lsh.2_Splice_Site_p.W374_splice|ALDH1A1_uc011lsg.2_Splice_Site_p.W279_splice	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	453					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GTTGGACTTACCACACTGTTC	0.383000														38			26		0	0	0.000586117	0	0
abParts	0	broad.mit.edu	37	2	89156800	89156800	+	RNA	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:89156800G>A	uc002sti.1	-	0		c.3475C>T			abParts_uc002stj.1_Non-coding_Transcript					Homo sapiens cDNA FLJ46682 fis, clone TRACH3011082, moderately similar to Ig kappa chain V-III region HAH precursor.																		GTCCCCTGTGGAAAAAGGGTC	0.547000														10			9		0	0	0.000274275	0	0
C6orf118	168090	broad.mit.edu	37	6	165706950	165706950	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:165706950C>T	uc003qum.4	-	5	1108	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	358										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ATCTCCAGTTCACTTCTGAGT	0.438000														173			58		0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	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					39			81		0	0	0.000781405	0	0
GCNT3	9245	broad.mit.edu	37	15	59911184	59911184	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr15:59911184G>A	uc002age.3	+	2	1196	c.747G>A	c.(745-747)agG>agA	p.R249R	GCNT3_uc002agd.3_Silent_p.R249R|GCNT3_uc021smz.1_Silent_p.R249R	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	249					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAATGGGAGGAATAGCATGG	0.458000														89			88		0	0	0.000781405	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835290	12835290	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:12835290C>T	uc001aui.3	+	0	307	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	94										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGAAGGTTCGCCCCAGGTG	0.592000														10			20		0	0	0.00047179	0	0
TTLL5	23093	broad.mit.edu	37	14	76135802	76135802	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr14:76135802C>T	uc010ask.2	+	2	393	c.118C>T	c.(118-120)Cca>Tca	p.P40S	TTLL5_uc001xrw.2_Missense_Mutation_p.P40S|TTLL5_uc001xrx.3_Missense_Mutation_p.P40S|TTLL5_uc001xrv.3_Missense_Mutation_p.P40S	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	40					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGGAGAATTCCAGTTTTGGT	0.448000														119			95		0	0	0.000781405	0	0
DDN	23109	broad.mit.edu	37	12	49392427	49392427	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr12:49392427G>A	uc001rsv.1	-	1	250	c.232C>T	c.(232-234)Cca>Tca	p.P78S		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	78						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGCGGCTGTGGGGATCCCGGG	0.731000														4			3		0	0	0.000602214	0	0
MAGI2	9863	broad.mit.edu	37	7	78150951	78150951	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:78150951C>T	uc003ugx.3	-	3	804	c.550G>A	c.(550-552)Ggt>Agt	p.G184S	MAGI2_uc003ugy.3_Missense_Mutation_p.G184S|MAGI2_uc011kgr.1_Missense_Mutation_p.G16S|MAGI2_uc011kgs.1_Missense_Mutation_p.G21S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	184	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTGGGGTACCGTAGTAATTG	0.383000														198			54		0	0	0.000781405	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431171	140431171	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:140431171T>A	uc003lik.1	+	0	193	c.116T>A	c.(115-117)aTg>aAg	p.M39K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	39	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAGGAAATGGAGAGCGGC	0.537000														18			14		0	0	0.000422831	0	0
VPRBP	9730	broad.mit.edu	37	3	51450468	51450468	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr3:51450468G>A	uc003dbe.2	-	20	4115	c.3930C>T	c.(3928-3930)gaC>gaT	p.D1310D	VPRBP_uc021wys.1_Silent_p.D1309D|VPRBP_uc003dbf.1_Silent_p.D639D	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	1363					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CAAGATAGCAGTCTTTGGTGT	0.413000														28			18		0	0	0.000175454	0	0
GON4L	54856	broad.mit.edu	37	1	155736300	155736300	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:155736300G>A	uc001flz.2	-	20	3061	c.2964C>T	c.(2962-2964)ttC>ttT	p.F988F	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Silent_p.F988F|GON4L_uc009wrh.1_Silent_p.F988F|GON4L_uc001fma.1_Silent_p.F988F|GON4L_uc001fmb.4_Silent_p.F184F|GON4L_uc001fmc.3_Silent_p.F988F|GON4L_uc001fmd.4_Silent_p.F988F|GON4L_uc009wri.3_Silent_p.F574F	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	988				F -> S (in Ref. 1; AAR01262 and 2; CAD97829).	regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTTCCTGGGGAAACGGGTGG	0.537000														56			42		0	0	0.000319135	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550575	144550576	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr8:144550575_144550576GG>AA	uc003yyd.2	-	6	2110_2111	c.2081_2082CC>TT	c.(2080-2082)ccc>cTT	p.P694L		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	694					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCACCTTCTCGGGATCGTGGAT	0.673000														27			9		0	0	6.4e-05	0	0
APBB3	10307	broad.mit.edu	37	5	139940274	139940274	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:139940274G>A	uc021yeh.1	-	10	1341	c.982C>T	c.(982-984)Ccc>Tcc	p.P328S	SRA1_uc003lga.3_5'Flank|SRA1_uc010jfm.3_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.P105S|APBB3_uc003lgc.1_Missense_Mutation_p.P105S|APBB3_uc003lgd.1_Missense_Mutation_p.P333S|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_Missense_Mutation_p.P105S|APBB3_uc003lge.1_Missense_Mutation_p.P326S|APBB3_uc021yeg.1_Missense_Mutation_p.P335S|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfq.1_Intron	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	328	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCATGGTGGGGACCCAGGCA	0.597000														15			13		0	0	0.000308642	0	0
OR10T2	128360	broad.mit.edu	37	1	158368474	158368474	+	Silent	SNP	C	T	T	rs145637310		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:158368474C>T	uc010pih.2	-	0	783	c.783G>A	c.(781-783)cgG>cgA	p.R261R		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261L(2)|p.R261W(1)|p.R261R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGGACTTGGGCCGCAGATAGA	0.512000														47			11		0	0	0.00010058	0	0
TPSB2	64499	broad.mit.edu	37	16	1279725	1279726	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr16:1279725_1279726GG>AA	uc002cky.3	-	2	97_98	c.74_75CC>TT	c.(73-75)gcc>gTT	p.A25V	TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.3_5'UTR	NM_024164	NP_077078	P20231	TRYB2_HUMAN	Homo sapiens tryptase beta 2 (gene/pseudogene) (TPSB2), mRNA.	25					proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CTCGCTGCAGGGCCTGGCCTGG	0.703000														14			7		0	0	6.4e-05	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487500	31487500	+	Silent	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr16:31487500C>T	uc002ecd.2	+	7	916	c.882C>T	c.(880-882)atC>atT	p.I294I	TGFB1I1_uc021tgx.1_Silent_p.I277I|TGFB1I1_uc002ece.2_Silent_p.I277I	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	294	LIM zinc-binding 2.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						ACCAGCCCATCCGACACGTGA	0.667000														38			21		0	0	0.00047179	0	0
PDE6C	5146	broad.mit.edu	37	10	95400680	95400680	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:95400680G>A	uc001kiu.4	+	13	1879	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	581					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTTTTAGACAGGAAGATTAAA	0.368000														4			19		0	0	0.000958276	0	0
CSMD1	64478	broad.mit.edu	37	8	2823399	2823399	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr8:2823399T>C	uc022aqr.1	-	58	9568	c.9178A>G	c.(9178-9180)Agc>Ggc	p.S3060G	CSMD1_uc011kwj.2_Missense_Mutation_p.S2390G|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3061	Sushi 24.					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)		CACTGATAGCTCACAGTCTTG	0.488000														22			3		0	0	6.4e-05	0	0
FAM46C	54855	broad.mit.edu	37	1	118165657	118165657	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:118165657G>A	uc021osq.1	+	0	167	c.167G>A	c.(166-168)cGc>cAc	p.R56H	FAM46C_uc001ehe.3_Missense_Mutation_p.R56H	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	56										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CAGACCGTCCGCAGTCGGCTG	0.567000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				27			22		0	0	0.000229342	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817500	23817500	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr14:23817500G>A	uc001wjl.3	-	4	945	c.708C>T	c.(706-708)ttC>ttT	p.F236F	SLC22A17_uc010akk.3_Silent_p.F18F|SLC22A17_uc001wjm.3_Silent_p.F236F|SLC22A17_uc001wjn.3_Non-coding_Transcript	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	236					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CGGACTCCAGGAACAAACCAG	0.617000														59			45		0	0	0.000781405	0	0
MPP7	143098	broad.mit.edu	37	10	28420536	28420536	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:28420536C>T	uc001iua.1	-	7	804	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E134K|MPP7_uc009xla.2_Missense_Mutation_p.E134K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	134					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACTGAGTCTTCCTCATCGTCA	0.418000														13			36		0	0	0.00111076	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603189	140603189	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:140603189G>A	uc003ljb.3	+	0	112	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	38	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E38K(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGGCAGAGGAAACAGAAAT	0.502000														22			19		0	0	0.000132079	0	0
ATF7IP	55729	broad.mit.edu	37	12	14610194	14610194	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr12:14610194G>A	uc001rbw.3	+	7	2281	c.2123G>A	c.(2122-2124)aGt>aAt	p.S708N	ATF7IP_uc010shs.1_Intron|ATF7IP_uc001rbu.3_Missense_Mutation_p.S708N|ATF7IP_uc001rbv.1_Missense_Mutation_p.S707N|ATF7IP_uc001rbx.3_Missense_Mutation_p.S707N|ATF7IP_uc010sht.1_Intron|ATF7IP_uc001rby.4_Missense_Mutation_p.S708N|ATF7IP_uc001rca.3_Missense_Mutation_p.S708N	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	708	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTAAGCGAGAGTGCACCACCA	0.363000														15			11		0	0	0.00010058	0	0
SMC5	23137	broad.mit.edu	37	9	72879317	72879317	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr9:72879317C>T	uc004ahr.2	+	1	400	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	95					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGCCATTTGCCTTGGTTTAGC	0.383000														68			32		0	0	0.000953801	0	0
GAPDH	2597	broad.mit.edu	37	12	6647267	6647267	+	Splice_Site	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr12:6647267G>A	uc001qop.1	+	9	1041	c.939_splice	c.e9-1	p.W313_splice		NM_002046	NP_002037	P04406	G3P_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), mRNA.	313					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CATCTTCTAGGTATGACAACG	0.567000											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			24		0	0	0.000184323	0	0
DMRT3	58524	broad.mit.edu	37	9	990578	990578	+	Missense_Mutation	SNP	G	A	A	rs147923658		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr9:990578G>A	uc003zgw.1	+	1	1030	c.992G>A	c.(991-993)gGa>gAa	p.G331E		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	331					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGGTCTGTGGGATCAGCCTTT	0.567000														5			31		0	0	0.000227799	0	0
KCNS3	3790	broad.mit.edu	37	2	18112675	18112675	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:18112675G>A	uc021veh.1	+	0	400	c.400G>A	c.(400-402)Gac>Aac	p.D134N	KCNS3_uc002rcv.3_Missense_Mutation_p.D134N|KCNS3_uc002rcw.3_Missense_Mutation_p.D134N	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	134					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAGGACTGGGACCAGAAAAG	0.502000														40			23		0	0	0.000375601	0	0
SPATA16	83893	broad.mit.edu	37	3	172834933	172834933	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr3:172834933C>T	uc003fin.4	-	1	773	c.589G>A	c.(589-591)Gga>Aga	p.G197R		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	197					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGAACTGTCCTGCTGCCAAG	0.408000														84			42		0	0	0.000781405	0	0
C17orf104	284071	broad.mit.edu	37	17	42744063	42744063	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:42744063G>T	uc002iha.3	+	4	1004	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	C17orf104_uc002igy.1_Nonsense_Mutation_p.E96*|C17orf104_uc002igz.3_Nonsense_Mutation_p.E96*|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	262										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AACATTCCAAGAATATCCACT	0.363000														16			18		8.00594e-06	9.51563e-05	0.000958276	1	0
CD5L	922	broad.mit.edu	37	1	157803144	157803144	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:157803144G>A	uc001frk.4	-	4	1020	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	293	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGAAGGAGGGAGAGAGGGAC	0.587000														78			29		0	0	0.000227799	0	0
WFDC8	90199	broad.mit.edu	37	20	44187499	44187499	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:44187499G>T	uc002xow.3	-	2	348	c.269C>A	c.(268-270)cCc>cAc	p.P90H	WFDC8_uc002xox.3_Missense_Mutation_p.P90H	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	90	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				ACCTTGAAAGGGATCCATGCA	0.502000														45			63		3.09758e-43	3.82751e-42	0.000781405	1	0
RGPD3	653489	broad.mit.edu	37	2	107040225	107040225	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:107040225C>T	uc010ywi.1	-	19	4255	c.4198G>A	c.(4198-4200)Gac>Aac	p.D1400N		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1400	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AATACTTGGTCCCTTCTCATC	0.363000														207			119		0	0	0.000781405	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														36			4		0	0	0.00024832	0	0
ITGAX	3687	broad.mit.edu	37	16	31384649	31384649	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr16:31384649G>A	uc002ebt.3	+	19	2513	c.2446G>A	c.(2446-2448)Gga>Aga	p.G816R	ITGAX_uc002ebu.1_Missense_Mutation_p.G816R	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	816					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G816*(4)		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						AGACTCCTACGGAACCACCAT	0.607000														26			15		0	0	0.000308642	0	0
abParts	0	broad.mit.edu	37	14	106829696	106829696	+	RNA	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr14:106829696G>A	uc021ser.1	-	518		c.15207C>T			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CTCGACTCTTGAGGGACGGGT	0.557000														76			67		0	0	0.000781405	0	0
LDB3	11155	broad.mit.edu	37	10	88476097	88476097	+	Silent	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:88476097C>T	uc001kdv.3	+	8	1268	c.1245C>T	c.(1243-1245)acC>acT	p.T415T	LDB3_uc010qml.1_Silent_p.T352T|LDB3_uc010qmm.2_Silent_p.T420T|LDB3_uc009xsz.3_Silent_p.T44T|LDB3_uc001kdu.3_Silent_p.T305T|LDB3_uc009xta.2_5'Flank	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	415						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCATCTACCTACAGCCCGT	0.572000														11			18		0	0	0.000175454	0	0
MLLT6	4302	broad.mit.edu	37	17	36872623	36872623	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:36872623C>T	uc002hqi.4	+	9	1053	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L	MLLT6_uc002hqj.3_Intron|MLLT6_uc002hqk.4_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	347					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCACAGTCTCGTCCCTGCAG	0.632000			T	MLL	AL									9			4		0	0	0.00024832	0	0
ACOT8	10005	broad.mit.edu	37	20	44485829	44485829	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:44485829G>A	uc002xqa.2	-	0	220	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ACOT8_uc010zxe.2_Silent_p.F42F|ACOT8_uc002xqc.2_Missense_Mutation_p.S34L|ACOT8_uc010zxf.2_Silent_p.F42F|ZSWIM3_uc010zxg.2_5'Flank|ZSWIM3_uc002xqd.3_5'Flank	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	42					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CCGGCTACCTGAAGAGATCCT	0.662000														57			21		0	0	0.00047179	0	0
LAMP3	27074	broad.mit.edu	37	3	182870284	182870284	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr3:182870284G>A	uc003flh.4	-	2	991	c.767C>T	c.(766-768)tCa>tTa	p.S256L		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	256					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TCTCCGAGGTGAAAAAACCTA	0.453000														122			88		0	0	0.000781405	0	0
GPR32	2854	broad.mit.edu	37	19	51274504	51274504	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr19:51274504G>A	uc010ycf.2	+	0	647	c.647G>A	c.(646-648)gGg>gAg	p.G216E		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	216						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CACATTATAGGGACCATTGGC	0.567000														24			17		0	0	0.000422831	0	0
TACR2	6865	broad.mit.edu	37	10	71174729	71174729	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:71174729C>T	uc001jpn.2	-	1	1154	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	187					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CCGCTGTCTTCGGGCCAGGCC	0.627000														6			28		0	0	0.000279167	0	0
ZNF385B	151126	broad.mit.edu	37	2	180308110	180308110	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:180308110G>A	uc002unn.4	-	9	1887	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	ZNF385B_uc002unj.3_Missense_Mutation_p.S326F|ZNF385B_uc002unl.3_Missense_Mutation_p.S325F|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.S352F	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	428						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CAGCGCTGAGGACACGGCTGC	0.627000														17			9		0	0	0.000673444	0	0
TEX101	83639	broad.mit.edu	37	19	43922417	43922417	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr19:43922417G>A	uc002owk.3	+	8	1233	c.672G>A	c.(670-672)agG>agA	p.R224R	TEX101_uc010xwo.2_Silent_p.R206R	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	206						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGTTTGTGAGGGAAGCGTGCC	0.527000														52			40		0	0	0.000270559	0	0
TREM2	54209	broad.mit.edu	37	6	41126821	41126821	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:41126821G>A	uc003opz.2	-	3	608	c.596C>T	c.(595-597)cCt>cTt	p.P199L	TREM2_uc003opy.2_Intron|TREM2_uc010jxl.1_Intron			Q9NZC2	TREM2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 2 (TREM2), mRNA.	169					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGACAAGAAGGCAGATGGGA	0.522000														17			11		0	0	0.000151284	0	0
OR52E6	390078	broad.mit.edu	37	11	5862851	5862851	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr11:5862851C>T	uc010qzq.2	-	0	277	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGATATTTCCTTGATATTG	0.473000														78			13		0	0	0.000219431	0	0
RAI1	10743	broad.mit.edu	37	17	17698878	17698878	+	Silent	SNP	C	G	G			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:17698878C>G	uc002grm.3	+	2	3085	c.2616C>G	c.(2614-2616)tcC>tcG	p.S872S	RAI1_uc002grn.1_Silent_p.S872S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	872						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAGTACTCCTCCCTATGTG	0.657000														3			9		0	0	0.000274275	0	0
ZNF18	7566	broad.mit.edu	37	17	11881421	11881421	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:11881421G>A	uc002gng.1	-	8	2108	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	ZNF18_uc002gnh.1_Silent_p.F501F|ZNF18_uc002gni.1_Silent_p.F500F	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	501					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ATCTCTGAATGAAACTTTTCT	0.438000														36			15		0	0	0.000308642	0	0
DNAH5	1767	broad.mit.edu	37	5	13871819	13871819	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:13871819C>T	uc003jfd.2	-	22	3494	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1151	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)					TTCTTCTTTTCCCTTTTGCCA	0.353000									Kartagener syndrome					22			18		0	0	0.00074312	0	0
SCN10A	6336	broad.mit.edu	37	3	38768522	38768522	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr3:38768522G>A	uc003ciq.3	-	15	2662	c.2662C>T	c.(2662-2664)Ctg>Ttg	p.L888L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	888					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)	TTCAATAGCAGGGCGATGAAC	0.552000														40			42		0	0	0.000680045	0	0
NCOR1	9611	broad.mit.edu	37	17	16024512	16024512	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:16024512G>A	uc002gpo.3	-	15	1975	c.1706C>T	c.(1705-1707)cCc>cTc	p.P569L	NCOR1_uc002gpn.3_Missense_Mutation_p.P569L|NCOR1_uc002gpp.1_Missense_Mutation_p.P460L|NCOR1_uc002gpr.3_Missense_Mutation_p.P460L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	569					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCGCCCCCGGGGTGTGGCTTG	0.537000														72			49		0	0	0.000781405	0	0
OR52N2	390077	broad.mit.edu	37	11	5841865	5841865	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr11:5841865G>A	uc010qzp.2	+	0	300	c.300G>A	c.(298-300)ctG>ctA	p.L100L	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGCCTGCCTGGCCCAGATGT	0.517000														82			7		0	0	8.12818e-05	0	0
TBCB	1155	broad.mit.edu	37	19	36616653	36616653	+	Missense_Mutation	SNP	C	T	T	rs1801989		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr19:36616653C>T	uc002odg.1	+	5	1279	c.704C>T	c.(703-705)cCg>cTg	p.P235L		NM_001281	NP_001272	Q99426	TBCB_HUMAN	Homo sapiens tubulin folding cofactor B (TBCB), mRNA.	235					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding	p.P235P(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGACTTCCCGGAGGAGGAC	0.572000														77			37		0	0	0.000953801	0	0
CSPG4	1464	broad.mit.edu	37	15	75982869	75982869	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr15:75982869G>A	uc002baw.3	-	2	630	c.537C>T	c.(535-537)agC>agT	p.S179S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	179	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCGGAGGAGGCTGCGGCCAT	0.642000														44			25		0	0	0.00106085	0	0
GGT1	2678	broad.mit.edu	37	22	25011077	25011077	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr22:25011077C>T	uc003aan.1	+	6	852	c.365C>T	c.(364-366)tCg>tTg	p.S122L	GGT1_uc003aas.1_Missense_Mutation_p.S122L|GGT1_uc003aat.1_Missense_Mutation_p.S122L|GGT1_uc003aau.2_Missense_Mutation_p.S122L|GGT1_uc003aav.2_Missense_Mutation_p.S122L|GGT1_uc003aaw.2_Missense_Mutation_p.S122L|GGT1_uc003aax.2_Missense_Mutation_p.S122L	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	122					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TTCAACAGCTCGGAGCAGTCC	0.652000														20			17		0	0	0.000175454	0	0
EDEM3	80267	broad.mit.edu	37	1	184672095	184672095	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:184672095G>A	uc010pom.2	-	18	2500	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	EDEM3_uc010pok.2_Silent_p.L747L|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	747	PA.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTGGAACAGAGGGGCAGTA	0.418000														34			17		0	0	0.000132079	0	0
ZNF41	7592	broad.mit.edu	37	X	47315704	47315704	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chrX:47315704T>C	uc004dhs.4	-	1	359	c.292A>G	c.(292-294)Aca>Gca	p.T98A	ZNF41_uc004dhu.4_Missense_Mutation_p.T90A|ZNF41_uc004dht.4_5'UTR|ZNF41_uc004dhv.4_Missense_Mutation_p.T66A|ZNF41_uc004dhw.4_Missense_Mutation_p.T58A|ZNF41_uc004dhy.4_Missense_Mutation_p.T56A|ZNF41_uc004dhx.4_Missense_Mutation_p.T56A|ZNF41_uc011mlm.2_5'UTR|ZNF41_uc004dhz.3_Non-coding_Transcript|ZNF41_uc004dia.3_Non-coding_Transcript	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	98	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTCTCTAGTGTCACATCCCAG	0.552000														8			24		0	0	0.000878237	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361257	70361257	+	Missense_Mutation	SNP	T	C	C			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr4:70361257T>C	uc003hek.4	-	0	370	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.Y108C	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	108					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGTGAAAAATATGACCAAAA	0.318000														14			12		0	0	0.000978159	0	0
LOC650368	650368	broad.mit.edu	37	11	3429978	3429978	+	RNA	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr11:3429978G>A	uc010qxs.1	+	10		c.1077G>A			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		AGAACCTGCGGGAGTCGCAGC	0.527000														9			14		0	0	0.000308642	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424434	47424434	+	Missense_Mutation	SNP	A	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr19:47424434A>T	uc010ekv.3	+	0	2502	c.2502A>T	c.(2500-2502)gaA>gaT	p.E834D		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	834					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGCGGATTGAACTGTCTGTTC	0.433000														73			43		0	0	0.000781405	0	0
RYR2	6262	broad.mit.edu	37	1	237813241	237813241	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:237813241C>T	uc001hyl.1	+	49	7697	c.7577C>T	c.(7576-7578)cCa>cTa	p.P2526L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2526	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCGTCTTGCCATTGTTAACA	0.468000														148			60		0	0	0.000781405	0	0
PRSS36	146547	broad.mit.edu	37	16	31153047	31153047	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr16:31153047C>T	uc002ebd.3	-	10	1815	c.1756G>A	c.(1756-1758)Ggt>Agt	p.G586S	PRSS36_uc010vff.2_Missense_Mutation_p.G361S|PRSS36_uc010vfg.2_Missense_Mutation_p.G581S|PRSS36_uc010vfh.2_Missense_Mutation_p.G586S	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	586					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGCTCACCACCATGCTCTGTG	0.647000														23			25		0	0	0.000227799	0	0
COL20A1	57642	broad.mit.edu	37	20	61941745	61941745	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:61941745G>A	uc011aau.2	+	10	1376	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	COL20A1_uc011aav.2_Missense_Mutation_p.G247R	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	426	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTGGTGGAGGGACCCGCCGC	0.672000														13			5		0	0	8.12818e-05	0	0
TSPAN6	7105	broad.mit.edu	37	X	99887504	99887504	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chrX:99887504G>A	uc004ega.1	-	5	750	c.647C>T	c.(646-648)tCc>tTc	p.S216F	TSPAN6_uc010nna.1_Missense_Mutation_p.S122F	NM_003270	NP_003261	O43657	TSN6_HUMAN	Homo sapiens tetraspanin 6 (TSPAN6), mRNA.	216					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						AACTCCAAAGGAAATTCCTGC	0.338000														1			11		0	0	0.000151284	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407266	62407266	+	Silent	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:62407266C>T	uc002ygv.2	-	2	1188	c.987G>A	c.(985-987)gaG>gaA	p.E329E	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCTCGGCCCTCTCTCCTCGGC	0.642000														26			30		0	0	0.000491102	0	0
FARP1	10160	broad.mit.edu	37	13	98996100	98996100	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr13:98996100C>T	uc001vnh.3	+	2	495	c.256C>T	c.(256-258)Cct>Tct	p.P86S	FARP1_uc001vnj.3_Missense_Mutation_p.P86S	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	86	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCTCGAGTTTCCTGATCACAA	0.483000														55			34		0	0	0.000409698	0	0
MARCO	8685	broad.mit.edu	37	2	119752093	119752093	+	Silent	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:119752093C>T	uc002tln.1	+	16	1692	c.1560C>T	c.(1558-1560)gtC>gtT	p.V520V	MARCO_uc010yyf.1_Silent_p.V442V	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	520					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.V520I(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGTGCAGCGTCTGACCCGGAA	0.607000														27			23		0	0	0.000375601	0	0
UCKL1	54963	broad.mit.edu	37	20	62576048	62576048	+	Missense_Mutation	SNP	T	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:62576048T>A	uc010gkn.3	-	5	769	c.694A>T	c.(694-696)Atc>Ttc	p.I232F	UCKL1_uc011abm.2_Missense_Mutation_p.I217F|UCKL1_uc011abn.2_Non-coding_Transcript|UCKL1_uc011abo.2_Non-coding_Transcript|MIR647_uc021wgn.1_5'Flank	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	232					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACCAGGCGGATGTCGGAGTCT	0.607000														36			38		0	0	0.000781405	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898827	130898827	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr12:130898827G>A	uc001uil.2	-	13	2711	c.2495C>T	c.(2494-2496)tCt>tTt	p.S832F		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	832						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAAGTCTGGAGAAAGGCGGTC	0.577000														59			36		0	0	0.000319135	0	0
OR10H4	126541	broad.mit.edu	37	19	16060553	16060553	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr19:16060553C>T	uc010xov.2	+	0	736	c.736C>T	c.(736-738)Cac>Tac	p.H246Y		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GTGTGTATCCCACCTCACTGT	0.502000														62			42		0	0	0.000319135	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417222	150417222	+	Missense_Mutation	SNP	G	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:150417222G>T	uc003whq.3	+	2	270	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.G44W	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GAGCGCCACTGGGAACAGCAT	0.637000														141			48		1.30916e-28	1.6018e-27	0.000781405	1	0
SAMD9L	219285	broad.mit.edu	37	7	92764709	92764709	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:92764709G>A	uc003umh.1	-	4	1792	c.576C>T	c.(574-576)ctC>ctT	p.L192L	SAMD9L_uc003umj.1_Silent_p.L192L|SAMD9L_uc003umi.1_Silent_p.L192L|SAMD9L_uc010lfb.1_Silent_p.L192L|SAMD9L_uc003umk.1_Silent_p.L192L|SAMD9L_uc010lfc.1_Silent_p.L192L|SAMD9L_uc010lfd.1_Silent_p.L192L|SAMD9L_uc022ahh.1_Silent_p.L192L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	192										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGGATCAATGAGATTGAGTG	0.393000														205			39		0	0	0.000953801	0	0
RSG1	79363	broad.mit.edu	37	1	16559022	16559022	+	Silent	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:16559022C>T	uc001ayd.3	-	3	932	c.510G>A	c.(508-510)agG>agA	p.R170R		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	Homo sapiens REM2 and RAB-like small GTPase 1 (RSG1), mRNA.	170	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						CGATGACCATCCTGACGACAC	0.597000														3			12		0	0	0.000308642	0	0
LOXL3	84695	broad.mit.edu	37	2	74763971	74763971	+	Silent	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:74763971G>A	uc002smp.1	-	4	849	c.777C>T	c.(775-777)tcC>tcT	p.S259S	LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Silent_p.S259S|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	259	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.S259P(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGAACTCCAGGGAACAGAGGG	0.662000														40			21		0	0	0.000229342	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564491	66564491	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr18:66564491G>A	uc002lkk.2	+	7	1312	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	CCDC102B_uc002lki.2_Nonsense_Mutation_p.W363*|CCDC102B_uc002lkj.1_Nonsense_Mutation_p.W363*	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	363										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTCGGAGTGGGACAAGAGGG	0.428000														60			29		0	0	0.00058488	0	0
FAT4	79633	broad.mit.edu	37	4	126373002	126373002	+	Missense_Mutation	SNP	C	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr4:126373002C>T	uc003ifj.4	+	8	10831	c.10831C>T	c.(10831-10833)Cct>Tct	p.P3611S	FAT4_uc011cgp.2_Missense_Mutation_p.P1909S|FAT4_uc003ifi.1_Missense_Mutation_p.P1089S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3611	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGACAATCCTTCACAGTC	0.428000														54			35		0	0	0.000270559	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886764	9886764	+	Silent	SNP	C	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr18:9886764C>A	uc002koi.4	+	1	737	c.288C>A	c.(286-288)acC>acA	p.T96T	TXNDC2_uc002koh.4_Silent_p.T29T|TXNDC2_uc021ugx.1_Silent_p.T29T	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	96					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CAGCAAACACCAGCCATCCCA	0.572000														18			12		6.40141e-05	0.000753676	0.000978159	1	0
RAG1	5896	broad.mit.edu	37	11	36595652	36595652	+	Silent	SNP	C	T	T	rs141654332	by1000genomes	TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr11:36595652C>T	uc021qgb.1	+	0	798	c.798C>T	c.(796-798)atC>atT	p.I266I	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.I266I	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	266	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGAAGAAGATCGCCAACTGCA	0.473000									Familial Hemophagocytic Lymphohistiocytosis					45			5		0	0	3.59834e-05	0	0
CCDC30	728621	broad.mit.edu	37	1	43042868	43042868	+	Missense_Mutation	SNP	G	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:43042868G>A	uc009vwk.1	+	6	1143	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CCDC30_uc001chm.2_Missense_Mutation_p.E43K|CCDC30_uc001chn.2_Missense_Mutation_p.E134K|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Missense_Mutation_p.E159K	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	345										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCTGGTTCAGGAGAAATCTAA	0.393000														15			11		0	0	0.000673444	0	0
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	-	-	rs11278152		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:226924876_226924884delCTGCCGCTG	uc010pvo.2	-	1	616_624	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_uc001hqh.3_In_Frame_Del_p.92_95SSGS>S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	92							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A94P(1)|p.V95L(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746													---	13	---	---	8	---					
VILL	50853	broad.mit.edu	37	3	38035430	38035431	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr3:38035430_38035431insT	uc003chj.3	+	2	388_389	c.102_103insT	c.(100-105)aactttfs	p.N34fs	VILL_uc003chk.1_Frame_Shift_Ins_p.N34fs|VILL_uc003chl.3_Frame_Shift_Ins_p.N34fs|VILL_uc010hgu.3_5'Flank	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	34					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTTACGGGAACTTTTTTGAGGA	0.599													---	83	---	---	40	---					
PTEN	5728	broad.mit.edu	37	10	89693002	89693003	+	Frame_Shift_Ins	INS	-	A	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:89693002_89693003insA	uc001kfb.3	+	4	1518_1519	c.486_487insA	c.(484-489)gacaaafs	p.D162fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	162	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.?(5)|p.R55fs*1(5)|p.K163*(4)|p.R161I(2)|p.Y27fs*1(2)|p.R161K(2)|p.Y27_N212>Y(2)|p.D162fs*8(2)|p.R161G(1)|p.K163_V166>NKGE(1)|p.D162H(1)|p.D162V(1)|p.F56fs*2(1)|p.D162G(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)		GGACCAGAGACAAAAAGGTAAG	0.351		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)			---	10	---	---	17	---					
NLK	51701	broad.mit.edu	37	17	26518151	26518168	+	In_Frame_Del	DEL	TGGAAGAGTTTATACCAG	-	-			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:26518151_26518168delTGGAAGAGTTTATACCAG	uc010crj.3	+	8	1553_1570	c.1341_1358delTGGAAGAGTTTATACCAG	c.(1339-1359)actggaagagtttataccagt>act	p.GRVYTS448del		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	448					Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCACCTCCACTGGAAGAGTTTATACCAGTGACTTTGAG	0.445													---	58	---	---	18	---					
TUBGCP6	85378	broad.mit.edu	37	22	50657854	50657854	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr22:50657854delG	uc003bkb.1	-	18	4859	c.4347delC	c.(4345-4347)cccfs	p.P1449fs	TUBGCP6_uc003bka.1_Frame_Shift_Del_p.P536fs|TUBGCP6_uc010har.1_Frame_Shift_Del_p.P1441fs|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1449					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGGGAAGCACGGGGCGCAAAA	0.687													---	4	---	---	2	---