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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NCAPD3	23310	broad.mit.edu	37	11	134062751	134062751	+	Silent	SNP	C	C	A	rs145787978		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:134062751C>A	uc001qhd.1	-	15	2484	c.1878G>T	c.(1876-1878)ccG>ccT	p.P626P	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	626					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCATCACCACCGGGACCACCC	0.542000													5	99					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155885664	155885664	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:155885664C>A	uc001fmi.1	-	13	1669	c.1645_splice	c.e13+1	p.D549_splice	KIAA0907_uc001fmj.1_Missense_Mutation_p.G549C	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	549										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TCACACTCACCATGGCTCCCT	0.512000													9	406					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6183065	6183065	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:6183065C>A	uc002mef.1	+	9	1331	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P	ACSBG2_uc002mee.1_Silent_p.P181P|ACSBG2_uc002meg.1_Silent_p.P368P|ACSBG2_uc002meh.1_Silent_p.P368P|ACSBG2_uc002mei.1_Silent_p.P318P|ACSBG2_uc010xiz.1_Silent_p.P368P	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	368					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATAATACTCCCGTGAGCTACC	0.522000													5	108					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40564554	40564554	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:40564554C>A	uc010bbl.3	+	5	1428	c.988C>A	c.(988-990)Cag>Aag	p.Q330K	PAK6_uc010bbm.3_Missense_Mutation_p.Q330K|PAK6_uc001zky.4_Missense_Mutation_p.Q330K|PAK6_uc010bbn.3_Missense_Mutation_p.Q330K|PAK6_uc001zlb.3_Missense_Mutation_p.Q330K	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	330	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGCAGCCCCCAGAAGTCCCT	0.687000													5	89					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14006305	14006305	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:14006305T>G	uc002mxl.1	-	2	145	c.86A>C	c.(85-87)tAt>tCt	p.Y29S	C19orf57_uc002mxk.1_5'Flank	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	29					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGGTCCCCATAGAAGTCTCC	0.547000													8	232					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675725	77675725	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:77675725C>A	uc011cbx.2	+	6	5042	c.4089C>A	c.(4087-4089)ccC>ccA	p.P1363P	SHROOM3_uc003hkg.3_Silent_p.P1141P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1363					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGCCATTCCCTCTGGCTACT	0.642000													5	59					0	0	1	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000													15	38					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154311117	154311117	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:154311117C>A	uc003lvx.3	-	4	765	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W	GEMIN5_uc011ddk.1_Missense_Mutation_p.G227W	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	228					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.N227N(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAGCATTCCCGTTGGTAATT	0.388000													4	43					0	0	1	0	0
TMEM237	65062	broad.mit.edu	37	2	202494461	202494461	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:202494461C>A	uc021vvg.1	-	7	769	c.668G>T	c.(667-669)cGg>cTg	p.R223L	TMEM237_uc021vvd.1_Missense_Mutation_p.R18L|TMEM237_uc021vve.1_Missense_Mutation_p.R215L|TMEM237_uc021vvf.1_Missense_Mutation_p.R18L|TMEM237_uc010zho.1_Missense_Mutation_p.R18L|TMEM237_uc010zhp.1_Non-coding_Transcript	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.	247						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CCTGAAAGCCCGGTGCACTGT	0.398000													5	110					0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58359012	58359012	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:58359012C>A	uc002rzo.2	+	11	1491	c.746C>A	c.(745-747)cCc>cAc	p.P249H	VRK2_uc010fcb.2_Missense_Mutation_p.P249H|VRK2_uc002rzt.3_Missense_Mutation_p.P131H|VRK2_uc002rzs.3_Missense_Mutation_p.P249H|VRK2_uc002rzv.3_Missense_Mutation_p.P249H|VRK2_uc010fcd.3_Missense_Mutation_p.P226H|VRK2_uc002rzu.3_Missense_Mutation_p.P249H|VRK2_uc010fcc.3_Missense_Mutation_p.P131H|VRK2_uc002rzp.3_Missense_Mutation_p.P249H|VRK2_uc010ypg.2_Missense_Mutation_p.P249H|VRK2_uc010yph.1_Missense_Mutation_p.P131H	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	249	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GGGAAACTTCCCTGGGAACAG	0.468000													7	75					0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38706826	38706826	+	Silent	SNP	C	C	A	rs148936397		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:38706826C>A	uc021uty.1	-	8	960	c.933G>T	c.(931-933)acG>acT	p.T311T	DPF1_uc002ohm.3_Silent_p.T311T|DPF1_uc002ohl.3_Silent_p.T267T|DPF1_uc002ohn.3_Silent_p.T229T	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	267					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGGACACCCCGTCTTCTTGG	0.627000													4	67					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158541297	158541297	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:158541297G>T	uc003fcl.2	+	11	1385	c.1305G>T	c.(1303-1305)ctG>ctT	p.L435L	MFSD1_uc011bow.2_Silent_p.L396L|MFSD1_uc003fcm.2_Non-coding_Transcript|MFSD1_uc003fcn.2_Silent_p.L289L	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA.	386					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACATCAGCTGGGAACTGCAT	0.418000													7	150					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158648265	158648265	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:158648265C>A	uc001fst.1	-	5	937	c.738G>T	c.(736-738)tgG>tgT	p.W246C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	246					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAAGGCGCTCCCAGGCAGCAT	0.453000													5	83					0	0	1	0	0
HES1	3280	broad.mit.edu	37	3	193855647	193855647	+	Silent	SNP	C	C	A	rs144918671		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:193855647C>A	uc003ftq.2	+	3	707	c.468C>A	c.(466-468)ccC>ccA	p.P156P		NM_005524	NP_005515	Q14469	HES1_HUMAN	Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA.	156	Pro-rich.				Notch signaling pathway|endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGACCTACCCCGGGCAGCCGC	0.731000													4	68					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858038	149858038	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:149858038G>T	uc001etc.3	-	0	195	c.153C>A	c.(151-153)ccC>ccA	p.P51P	HIST2H2AC_uc001etd.3_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA.	51					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGCCGGTGTCGGGGTGGACCT	0.592000													9	288					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045725	76045725	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:76045725C>A	uc002jud.2	+	3	1182	c.582C>A	c.(580-582)ccC>ccA	p.P194P	TNRC6C_uc002juf.2_Silent_p.P194P|TNRC6C_uc002jue.2_Silent_p.P194P	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	194	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACTCTTCACCCAACCCTATCA	0.512000													7	274					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2256121	2256121	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:2256121C>A	uc002coy.3	+	1	426	c.35C>A	c.(34-36)cCg>cAg	p.P12Q	MLST8_uc002cpc.3_Missense_Mutation_p.P12Q|MLST8_uc010uvx.2_5'UTR|MLST8_uc002cpd.3_5'UTR|MLST8_uc002cpb.3_Missense_Mutation_p.P12Q|MLST8_uc002coz.3_Missense_Mutation_p.P12Q|MLST8_uc002cpe.3_Missense_Mutation_p.P12Q|MLST8_uc010uvy.2_Missense_Mutation_p.P12Q|MLST8_uc002cpf.3_Missense_Mutation_p.P12Q|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	12					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GGCAGTGACCCGGTCATCCTG	0.652000													5	129					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6204639	6204639	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:6204639C>A	uc001qnn.1	-	5	894	c.644G>T	c.(643-645)gGg>gTg	p.G215V	VWF_uc010set.1_Missense_Mutation_p.G215V|VWF_uc001qno.1_Missense_Mutation_p.G252V	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	215	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGCATTTCCCCAGAGGAGAT	0.527000													7	111					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128463962	128463962	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:128463962C>A	uc002tpg.2	-	21	4145	c.3946G>T	c.(3946-3948)Ggg>Tgg	p.G1316W		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1316					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATGTTACTCCCTCTACCCCAG	0.617000													7	196					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55651014	55651014	+	Silent	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:55651014T>G	uc004duo.3	+	0	1182	c.870T>G	c.(868-870)gcT>gcG	p.A290A		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	290					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAGCCTTTGCTCAAAGGGAGA	0.493000													17	15					0	0	1	0	0
ZNF22	7570	broad.mit.edu	37	10	45499409	45499409	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:45499409G>T	uc001jbw.3	+	1	836	c.593G>T	c.(592-594)cGg>cTg	p.R198L	C10orf25_uc001jbv.2_5'Flank|ZNF22_uc001jbx.1_Non-coding_Transcript|ZNF22_uc021ppo.1_Missense_Mutation_p.R198L	NM_006963	NP_008894	P17026	ZNF22_HUMAN	Homo sapiens zinc finger protein 22 (KOX 15) (ZNF22), mRNA.	198					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CGTAAAACCCGGGGCAAAAAT	0.473000													5	85					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111329353	111329353	+	Silent	SNP	C	C	A	rs149601283		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:111329353C>A	uc001vrd.2	-	6	793	c.753G>T	c.(751-753)ccG>ccT	p.P251P	CARS2_uc010tjm.1_Non-coding_Transcript	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA.	251					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TGTGCCAGCCCGGCCTCCCGG	0.662000													5	73					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110931935	110931935	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:110931935C>A	uc001dzo.2	-	1	261	c.11G>T	c.(10-12)aGg>aTg	p.R4M	SLC16A4_uc009wfs.2_Missense_Mutation_p.R4M|SLC16A4_uc001dzp.2_Missense_Mutation_p.R4M|SLC16A4_uc010ovy.2_5'UTR|SLC16A4_uc010ovz.2_5'UTR|SLC16A4_uc001dzq.2_5'UTR	NM_004696	NP_004687	O15374	MOT5_HUMAN	Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA.	4						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CTTCCCCTCCCTCTTCAGCAT	0.403000													6	104					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811384	23811384	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:23811384C>A	uc001ywh.4	+	0	931	c.455C>A	c.(454-456)cCg>cAg	p.P152Q	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.P152Q	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	152						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATCGAGCCCCCGACTCAGGAA	0.642000													5	63					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51585865	51585865	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51585865G>T	uc021uyk.1	-	2	274	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	KLK14_uc002pvs.1_Missense_Mutation_p.L19I	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	19					epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCAGCAGGAGGAACATTTTA	0.537000													5	84					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31124678	31124678	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31124678G>T	uc003nsp.4	-	2	516	c.327C>A	c.(325-327)ccC>ccA	p.P109P	CCHCR1_uc011dne.2_Silent_p.P20P|CCHCR1_uc003nsq.4_Intron|CCHCR1_uc003nsr.4_Silent_p.P20P|CCHCR1_uc010jsk.1_Silent_p.P20P|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	20			R -> W (in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130076).		cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GAGTTGAAAGGGGCCGAGCTT	0.552000													6	79					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096743	41096743	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:41096743C>A	uc002oob.3	+	16	1925	c.1876C>A	c.(1876-1878)Cgc>Agc	p.R626S	SHKBP1_uc002ooc.3_Missense_Mutation_p.R601S|SHKBP1_uc002ooe.3_Missense_Mutation_p.R463S|SHKBP1_uc010xvm.2_Missense_Mutation_p.R406S|SHKBP1_uc010xvn.2_Missense_Mutation_p.R504S|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	626						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCTCACCCCGCATCTCCCT	0.647000													4	71					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15499734	15499734	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:15499734C>A	uc003bzx.3	-	12	1039	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W	COLQ_uc003bzv.3_Missense_Mutation_p.G295W|COLQ_uc010heo.3_Missense_Mutation_p.G271W|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Missense_Mutation_p.G164W	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	305					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		p.G305W(2)|p.Y304Y(1)|p.G295W(1)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						ACAGATTCCCCGTAGGAAGGG	0.527000													5	106					0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203134669	203134669	+	Missense_Mutation	SNP	C	C	T	rs148415221		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:203134669C>T	uc010pqh.1	+	2	758	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	ADORA1_uc001gzf.1_Missense_Mutation_p.R208C|ADORA1_uc001gze.1_Missense_Mutation_p.R208C|ADORA1_uc010pqg.1_Missense_Mutation_p.R140C|ADORA1_uc009xak.1_Missense_Mutation_p.P133L	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	208					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.R208C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CTACCTAATCCGCAAGCAGCT	0.552000													5	77					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684893	44684893	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:44684893C>A	uc003cnm.3	+	5	2477	c.2271C>A	c.(2269-2271)acC>acA	p.T757T	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	757					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAATCCACACCGGAGAAAAAC	0.433000													5	143					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347572	74347572	+	Missense_Mutation	SNP	G	G	T	rs75652679	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:74347572G>T	uc003hhb.3	+	0	111	c.80G>T	c.(79-81)cGg>cTg	p.R27L		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	27	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACACAACCTCGGGATATAGGT	0.299000													4	70					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137796416	137796416	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:137796416G>T	uc003erq.3	-	10	1710	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	DZIP1L_uc003err.1_Silent_p.P449P	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	449						intracellular	zinc ion binding	p.P449P(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCAGCAAAGTGGGGTTACGCC	0.532000													6	153					0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110211967	110211967	+	Missense_Mutation	SNP	G	G	T	rs147235683		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:110211967G>T	uc001dyi.3	+	3	547	c.233G>T	c.(232-234)cGg>cTg	p.R78L	GSTM4_uc001dyj.3_Missense_Mutation_p.R78L|GSTM4_uc010ovt.2_Missense_Mutation_p.R78L|GSTM4_uc009wfk.3_Non-coding_Transcript	NM_000848	NP_000839	Q03013	GSTM4_HUMAN	Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA.	78	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCATCCTGCGGTACATTGCC	0.587000													8	213					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128046370	128046370	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:128046370C>A	uc002toh.1	-	6	988	c.893G>T	c.(892-894)cGg>cTg	p.R298L	ERCC3_uc002toe.1_Missense_Mutation_p.R53L|ERCC3_uc002tof.1_Missense_Mutation_p.R234L|ERCC3_uc002tog.1_Missense_Mutation_p.R234L|ERCC3_uc010flx.1_Missense_Mutation_p.R53L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	298					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AGAATCATTCCGGAAGTCATA	0.468000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	297					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120776122	120776122	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:120776122C>A	uc001pxn.2	+	12	1683	c.1396C>A	c.(1396-1398)Cgc>Agc	p.R466S	GRIK4_uc009zav.1_Missense_Mutation_p.R466S|GRIK4_uc009zaw.1_Missense_Mutation_p.R466S|GRIK4_uc009zax.1_Missense_Mutation_p.R466S	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	466					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTACAAGATCCGCCTGGTTGG	0.592000													6	193					0	0	1	0	0
TMUB1	83590	broad.mit.edu	37	7	150779390	150779390	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:150779390C>A	uc003wjd.3	-	1	391	c.261G>T	c.(259-261)acG>acT	p.T87T	FASTK_uc003wiw.1_5'Flank|FASTK_uc003wix.1_5'Flank|FASTK_uc003wiy.1_5'Flank|FASTK_uc003wiz.1_5'Flank|FASTK_uc003wja.1_5'Flank|TMUB1_uc003wjb.3_Silent_p.T87T|TMUB1_uc003wjc.3_Silent_p.T87T	NM_001136044	NP_113622	Q9BVT8	TMUB1_HUMAN	Homo sapiens transmembrane and ubiquitin-like domain containing 1 (TMUB1), transcript variant 2, mRNA.	87						cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTGAACCCCGTGCTGGGCT	0.657000													6	214					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75104825	75104825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:75104825C>A	uc009xrc.3	-	5	728	c.607G>T	c.(607-609)Gag>Tag	p.E203*	TTC18_uc001jty.3_Nonsense_Mutation_p.E203*|TTC18_uc009xrd.1_Nonsense_Mutation_p.E11*	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	203							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GGCTTTACCTCTCCAAGTGAT	0.458000													8	290					0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35219499	35219499	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:35219499C>A	uc021wcv.1	+	2	593	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	TGIF2_uc021wcu.1_Missense_Mutation_p.L127M|TGIF2_uc002xfn.3_Missense_Mutation_p.L127M|TGIF2_uc021wcw.1_Missense_Mutation_p.L127M|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	127	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGTGCTCTCCCTGTCTGTGTG	0.672000													6	120					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749994	33749994	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:33749994C>A	uc002hji.4	-	1	431	c.54G>T	c.(52-54)gtG>gtT	p.V18V	SLFN12_uc002hjj.4_Silent_p.V18V|SLFN12_uc010cts.3_Silent_p.V18V	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	18							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACTCTTCCCACATCTAGAA	0.403000													6	177					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511007	61511007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:61511007C>A	uc002ydr.2	-	15	6613	c.6301G>T	c.(6301-6303)Gag>Tag	p.E2101*	DIDO1_uc002yds.2_Nonsense_Mutation_p.E2101*	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2101					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGGGCTCCTCCAGCGGCTTC	0.677000													8	258					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42265804	42265804	+	Missense_Mutation	SNP	G	G	T	rs145627647	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:42265804G>T	uc002xkw.3	+	11	1153	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Missense_Mutation_p.R344L	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	344						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCAGTTTCCGGGAGTTACCA	0.418000													4	119					0	0	1	0	0
OGG1	4968	broad.mit.edu	37	3	9798500	9798500	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:9798500G>T	uc003bsi.3	+	6	1291	c.948_splice	c.e6+1	p.A316_splice	OGG1_uc003bsj.3_Splice_Site_p.A316_splice|OGG1_uc003bsh.3_Silent_p.A316A|OGG1_uc003bsl.3_Splice_Site_p.A316_splice|OGG1_uc003bsk.3_Splice_Site_p.A316_splice|OGG1_uc003bsm.3_Splice_Site_p.A316_splice|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Splice_Site_p.A81_splice|OGG1_uc010hcm.2_Splice_Site_p.R109_splice|OGG1_uc003bsq.2_Splice_Site_p.R31_splice|OGG1_uc003bsp.2_Splice_Site_p.A81_splice	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	316				A -> ATPPSLQ (in Ref. 2; AAB81132).	depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GGGCCCAAGCGGTGAGTGTAC	0.562000								Base excision repair (BER), DNA glycosylases					4	45					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205238901	205238901	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:205238901G>T	uc021pia.1	+	2	2226	c.1571G>T	c.(1570-1572)cGg>cTg	p.R524L	TMCC2_uc010prf.2_Missense_Mutation_p.R446L|TMCC2_uc001hca.3_Missense_Mutation_p.R299L|TMCC2_uc001hcb.2_Missense_Mutation_p.R284L|TMCC2_uc001hcc.2_Missense_Mutation_p.R145L|TMCC2_uc001hcd.3_Missense_Mutation_p.R291L	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	524						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAGAGCTACGGGAGATCAAG	0.592000													5	128					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128047346	128047346	+	Silent	SNP	G	G	T	rs145214879		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:128047346G>T	uc002toh.1	-	4	671	c.576C>A	c.(574-576)ccC>ccA	p.P192P	ERCC3_uc002toe.1_5'UTR|ERCC3_uc002tof.1_Silent_p.P128P|ERCC3_uc002tog.1_Silent_p.P128P|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript|ERCC3_uc010fly.3_3'UTR	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	192					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTCGGATCACGGGGTCCTGGA	0.532000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	136					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085985	92085985	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:92085985G>T	uc001pdj.4	+	0	724	c.707G>T	c.(706-708)cGg>cTg	p.R236L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	236	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGTGGACCGGGGAATGAAA	0.423000										TCGA Ovarian(4;0.039)			6	209					0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22213860	22213860	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:22213860G>T	uc001rfm.3	+	5	867	c.788_splice	c.e5+1	p.R263_splice	CMAS_uc001rfn.3_Splice_Site	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	263					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGAGTATTAAGGTAAAAACAA	0.318000													6	97					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43031277	43031277	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43031277G>T	uc002otv.3	-	1	475	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.Q114K|CEACAM1_uc002otw.3_Missense_Mutation_p.Q114K|CEACAM1_uc002otx.3_Missense_Mutation_p.Q114K|CEACAM1_uc002oty.3_Missense_Mutation_p.Q114K|CEACAM1_uc002otz.3_Missense_Mutation_p.Q114K|CEACAM1_uc010eik.3_Missense_Mutation_p.Q114K|CEACAM1_uc002oua.3_Missense_Mutation_p.Q114K|CEACAM1_uc002oub.3_Missense_Mutation_p.Q114K|CEACAM1_uc002ouc.3_Missense_Mutation_p.Q114K	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	114	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTGTCATTCTGGGTGACGTTC	0.473000													9	412					0	0	1	0	0
SNAPIN	23557	broad.mit.edu	37	1	153631998	153631998	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:153631998C>A	uc001fcq.3	+	2	340	c.265C>A	c.(265-267)Cgg>Agg	p.R89R		NM_012437	NP_036569	O95295	SNAPN_HUMAN	Homo sapiens SNAP-associated protein (SNAPIN), mRNA.	89					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTAATGCCCGGCGACGCGT	0.448000													4	63					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73571187	73571187	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:73571187C>A	uc001jrx.4	+	60	9574	c.9184C>A	c.(9184-9186)Ctg>Atg	p.L3062M	CDH23_uc001jsg.4_Missense_Mutation_p.L825M|CDH23_uc001jsh.4_Missense_Mutation_p.L825M|CDH23_uc001jsi.4_Missense_Mutation_p.L825M|CDH23_uc001jsj.4_5'Flank|CDH23_uc010qjr.2_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3065					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATGTCTGCCCTGCAGGTACC	0.642000													5	49					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42828262	42828262	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:42828262C>A	uc002ihf.3	+	13	1702	c.1489C>A	c.(1489-1491)Cct>Act	p.P497T	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	497					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACTCCTCTTCCCTGAAGCCAG	0.597000													5	60					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62649502	62649502	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62649502G>A	uc001nwd.3	+	4	1123	c.865G>A	c.(865-867)Gat>Aat	p.D289N	SLC3A2_uc001nwc.3_Missense_Mutation_p.D290N|SLC3A2_uc001nwf.3_Missense_Mutation_p.D227N|SLC3A2_uc001nwg.3_Missense_Mutation_p.D188N|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	289					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCCAAGGAAGATTTTGACAG	0.488000													19	65					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	397178	397178	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:397178C>A	uc003msz.4	+	4	689	c.563C>A	c.(562-564)cCg>cAg	p.P188Q	IRF4_uc010jne.2_Missense_Mutation_p.P188Q|IRF4_uc003mtb.4_Missense_Mutation_p.P187Q|IRF4_uc021ykl.1_Missense_Mutation_p.P34Q|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.P18Q	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	188					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAGCCACACCCGGAAATCCCG	0.562000			T	IGH@	MM								6	163					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9613084	9613084	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:9613084C>A	uc002qzo.1	+	17	2028	c.1993C>A	c.(1993-1995)Ctc>Atc	p.L665I	CPSF3_uc002qzp.1_Missense_Mutation_p.L628I|IAH1_uc002qzr.3_5'Flank|IAH1_uc002qzs.3_5'Flank|IAH1_uc002qzt.3_5'Flank|IAH1_uc010yiz.2_5'Flank	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	665					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CGATGAATCCCTCCGAGAAAT	0.423000													5	42					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102547740	102547740	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:102547740C>A	uc010swa.2	+	4	824	c.712C>A	c.(712-714)Cgt>Agt	p.R238S	PARPBP_uc001tje.3_Missense_Mutation_p.R80S|PARPBP_uc001tjf.3_Missense_Mutation_p.R161S|PARPBP_uc001tjg.3_Missense_Mutation_p.R80S|PARPBP_uc001tjh.3_Missense_Mutation_p.R80S|PARPBP_uc010swb.2_Intron|PARPBP_uc001tji.3_Missense_Mutation_p.R165S|PARPBP_uc009zuc.3_Intron|PARPBP_uc001tjj.3_5'UTR|PARPBP_uc001tjk.3_Missense_Mutation_p.R161S|PARPBP_uc009zud.3_Missense_Mutation_p.R161S	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	Homo sapiens PARP1 binding protein (PARPBP), mRNA.	161					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	p.Y238C(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TAAATACAACCGTGATAATGA	0.353000													5	81					0	0	1	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	A	G	rs115341812	by1000genomes	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000													3	27					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24229057	24229057	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:24229057C>A	uc011mjv.2	+	9	2348	c.2099C>A	c.(2098-2100)cCc>cAc	p.P700H	ZFX_uc004dbd.2_Missense_Mutation_p.P661H|ZFX_uc004dbf.3_Missense_Mutation_p.P661H|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.P661H|ZFX_uc010nfx.2_Missense_Mutation_p.P432H|ZFX_uc010nfz.3_Missense_Mutation_p.P317H	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGACTACCCCCATAAGTGT	0.438000													5	64					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226994	79226994	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:79226994C>A	uc002jzz.1	-	11	1710	c.1335G>T	c.(1333-1335)ccG>ccT	p.P445P	SLC38A10_uc002jzy.1_Silent_p.P363P|SLC38A10_uc002kab.3_Silent_p.P445P	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	445					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCGGCAGCTTCGGCTTCTCCC	0.662000											OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	93					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75489529	75489529	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:75489529G>T	uc001xrd.1	-	10	4294	c.4078C>A	c.(4078-4080)Caa>Aaa	p.Q1360K	MLH3_uc001xre.1_Missense_Mutation_p.Q1336K|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	1360					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGCAGGCTTGGGATGCCAAC	0.517000								Mismatch excision repair (MMR)					7	175					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45269642	45269642	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:45269642C>A	uc010skz.1	-	1	286	c.161G>T	c.(160-162)cGg>cTg	p.R54L	NELL2_uc001rof.3_5'Flank|NELL2_uc001rog.2_Missense_Mutation_p.R4L|NELL2_uc001roh.2_Missense_Mutation_p.R4L|NELL2_uc009zkd.2_5'UTR|NELL2_uc010sla.1_Missense_Mutation_p.R27L|NELL2_uc001roi.1_Missense_Mutation_p.R4L|NELL2_uc010slb.1_5'UTR|NELL2_uc001roj.2_Missense_Mutation_p.R4L	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	4	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.R4Q(1)|p.R54Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAGTAAGACCCGAGACTCCAT	0.517000													5	126					0	0	1	0	0
PAQR6	79957	broad.mit.edu	37	1	156213708	156213708	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:156213708C>A	uc001fnz.1	-	6	1616	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W	PAQR6_uc001fnv.1_3'UTR|PAQR6_uc010phg.1_3'UTR|PAQR6_uc001fnx.1_3'UTR|PAQR6_uc001fnu.1_3'UTR|PAQR6_uc010phf.1_Missense_Mutation_p.G266W|PAQR6_uc001fny.1_Missense_Mutation_p.G194W|PAQR6_uc010phh.1_3'UTR|PAQR6_uc001foa.1_3'UTR|PAQR6_uc001fob.1_Non-coding_Transcript	NM_024897	NP_079173	Q6TCH4	PAQR6_HUMAN	Homo sapiens progestin and adipoQ receptor family member VI (PAQR6), transcript variant 1, mRNA.	0						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CTTCCACTCCCATCAAGAGCC	0.602000													8	264					0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40453403	40453403	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40453403C>A	uc002hzj.2	+	9	1742	c.1100C>A	c.(1099-1101)cCc>cAc	p.P367H	STAT5A_uc010cya.2_Missense_Mutation_p.P367H|STAT5A_uc010cyb.2_Missense_Mutation_p.P367H|STAT5A_uc010cyc.2_Missense_Mutation_p.P337H	NM_003152	NP_003143	P42229	STA5A_HUMAN	Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.	367					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P367S(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ATGAATCCCCCCCAGGTGAAG	0.567000													6	83					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057927	27057927	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:27057927C>A	uc001bmv.1	+	2	2008	c.1635C>A	c.(1633-1635)ccC>ccA	p.P545P	ARID1A_uc001bmt.1_Silent_p.P545P|ARID1A_uc001bmu.1_Silent_p.P545P|ARID1A_uc001bmw.1_Silent_p.P162P	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	545					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCAGCACCCCCAGAGCCAGC	0.647000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	243					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40045869	40045869	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:40045869G>T	uc003ayc.3	+	9	1931	c.1931G>T	c.(1930-1932)cGg>cTg	p.R644L	CACNA1I_uc003ayd.3_Missense_Mutation_p.R609L|CACNA1I_uc003aye.3_Missense_Mutation_p.R559L|CACNA1I_uc003ayf.3_Missense_Mutation_p.R524L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	644					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TACTTCAACCGGGGCATCATG	0.677000													4	41					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96140172	96140172	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:96140172G>T	uc003hto.3	-	8	1946	c.1593C>A	c.(1591-1593)acC>acA	p.T531T	UNC5C_uc010ilc.2_Silent_p.T550T|UNC5C_uc003htq.3_Silent_p.T550T	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	531	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.T531T(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGCCAAATGCGGTACAGGATG	0.483000													5	103					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936083	178936083	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178936083A>C	uc003fjk.3	+	9	1782	c.1625A>C	c.(1624-1626)gAa>gCa	p.E542A		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(686)|p.E542V(16)|p.E542Q(8)|p.E542A(6)|p.(542_545)E>K(4)|p.E542G(3)|p.S541T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTCTCTCTGAAATCACTGAG	0.333000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	56					0	0	1	0	0
NUS1	116150	broad.mit.edu	37	6	118015306	118015306	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:118015306C>A	uc003pxw.3	+	2	871	c.654C>A	c.(652-654)ccC>ccA	p.P218P		NM_138459	NP_612468	Q96E22	NGBR_HUMAN	Homo sapiens nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) (NUS1), mRNA.	218					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AAAAGAGACCCACAGATTTGG	0.368000													5	102					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413991	121413991	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:121413991C>A	uc010hrc.3	-	12	5505	c.5379G>T	c.(5377-5379)gaG>gaT	p.E1793D	GOLGB1_uc003eei.4_Missense_Mutation_p.E1788D|GOLGB1_uc003eej.4_Missense_Mutation_p.E1754D|GOLGB1_uc021xcy.1_Missense_Mutation_p.E1713D|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1674D|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1752D	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1788					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACTGTGTTCCCTCTTCAGTGA	0.433000													8	267					0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3207443	3207443	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:3207443C>A	uc002lxi.3	+	13	1762	c.1608C>A	c.(1606-1608)ctC>ctA	p.L536L	NCLN_uc002lxh.1_Non-coding_Transcript|NCLN_uc002lxj.1_Non-coding_Transcript|NCLN_uc002lxk.3_Silent_p.L180L	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	536					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCTACCTCGGCATGGCCT	0.672000													6	167					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136473257	136473257	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:136473257C>A	uc002tuo.3	+	22	3139	c.2769C>A	c.(2767-2769)ccC>ccA	p.P923P	R3HDM1_uc010fni.3_Silent_p.P922P|R3HDM1_uc002tup.3_Silent_p.P868P|R3HDM1_uc010zbh.2_Silent_p.P671P	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	923							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTTTTGTCCCCGGGCAAGGTA	0.463000													5	119					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16962307	16962307	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:16962307C>A	uc002ney.2	+	5	834	c.811C>A	c.(811-813)Cgg>Agg	p.R271R	SIN3B_uc002new.3_Silent_p.R271R|SIN3B_uc002nez.2_Silent_p.R271R	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	271					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGCGCTCCCGGCCCTCGCT	0.657000													6	100					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118509944	118509944	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:118509944C>A	uc001ptr.2	+	12	3064	c.2711C>A	c.(2710-2712)cCg>cAg	p.P904Q	PHLDB1_uc001pts.3_Missense_Mutation_p.P904Q|PHLDB1_uc001ptt.3_Missense_Mutation_p.P904Q|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.P704Q|PHLDB1_uc001ptw.2_Missense_Mutation_p.P306Q|PHLDB1_uc009zai.2_5'UTR|PHLDB1_uc001ptx.2_5'UTR|PHLDB1_uc010ryi.1_5'Flank|PHLDB1_uc010ryj.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	904								p.P904P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGGCCTTTCCCGAAGACCACA	0.552000													5	95					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130013260	130013260	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:130013260C>A	uc010sby.2	+	17	2366	c.2209C>A	c.(2209-2211)Cca>Aca	p.P737T	APLP2_uc001qfp.3_Missense_Mutation_p.P725T|APLP2_uc001qfq.3_Missense_Mutation_p.P669T|APLP2_uc010sbz.2_Missense_Mutation_p.P525T|APLP2_uc001qfr.3_Missense_Mutation_p.P491T|APLP2_uc001qfs.3_Missense_Mutation_p.P496T|APLP2_uc021qsg.1_Missense_Mutation_p.P735T|APLP2_uc001qfv.3_Missense_Mutation_p.P628T|APLP2_uc009zcv.3_Missense_Mutation_p.P85T	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	737					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AATGCTCACCCCAGAAGAGCG	0.542000													6	101					0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135630916	135630916	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:135630916G>T	uc004ezy.3	+	2	553	c.383G>T	c.(382-384)gGg>gTg	p.G128V	MIR934_uc022cev.1_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GTTCGGCCTGGGGAGCTGTGG	0.627000													6	129					0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156866175	156866175	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:156866175C>A	uc003fbf.3	-	10	2035	c.1436G>T	c.(1435-1437)cGg>cTg	p.R479L	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.3_Missense_Mutation_p.R273L|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	479					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding	p.R479L(2)|p.R479R(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TGAGTGATCCCGAGACTTGCT	0.458000													8	189					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406046	105406046	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:105406046G>T	uc010axc.1	-	6	15862	c.15742C>A	c.(15742-15744)Cta>Ata	p.L5248I	AHNAK2_uc021sen.1_Missense_Mutation_p.L645I|AHNAK2_uc021seo.1_Missense_Mutation_p.L246I|AHNAK2_uc001ypx.2_Missense_Mutation_p.L5148I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5248						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGCTGTAGGGACATAGCT	0.517000													10	374					0	0	1	0	0
SHISA4	149345	broad.mit.edu	37	1	201860964	201860964	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:201860964C>A	uc001gxa.3	+	4	902	c.584C>A	c.(583-585)cCg>cAg	p.P195Q	SHISA4_uc021phk.1_Non-coding_Transcript	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA.	195	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						CCCTCTTACCCGGGAGCCTGA	0.577000													5	158					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033121	82033121	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:82033121G>T	uc002fgu.3	-	2	905	c.777C>A	c.(775-777)ccC>ccA	p.P259P		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	259					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						AGTTGTTCACGGGTCTGCCAT	0.547000													5	116					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1650857	1650857	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:1650857G>T	uc001agv.1	-	3	348	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_Missense_Mutation_p.Q55K|CDK11B_uc001agw.1_Missense_Mutation_p.Q55K|CDK11B_uc001agy.1_Missense_Mutation_p.Q89K|CDK11B_uc001agx.1_Missense_Mutation_p.Q89K|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc009vkr.3_Missense_Mutation_p.Q89K|CDK11B_uc009vks.3_Missense_Mutation_p.Q89K|CDK11B_uc010nys.2_Missense_Mutation_p.Q89K|CDK11B_uc010nyt.1_Missense_Mutation_p.Q89K|CDK11B_uc010nyu.1_Non-coding_Transcript|CDK11B_uc009vkt.1_Missense_Mutation_p.Q89K|CDK11B_uc009vku.1_Missense_Mutation_p.Q89K|CDK11B_uc009vkv.1_Missense_Mutation_p.Q89K|CDK11B_uc001aht.1_Missense_Mutation_p.Q89K|CDK11B_uc001ahu.1_Missense_Mutation_p.Q89K|CDK11B_uc001ahv.1_Missense_Mutation_p.Q89K|CDK11B_uc001ahw.1_Missense_Mutation_p.Q89K	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	89					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GACATTTGCTGGGGTGGTTTG	0.418000													9	388					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196799690	196799690	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:196799690C>A	uc001gtn.3	+	4	782	c.668C>A	c.(667-669)cCg>cAg	p.P223Q	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.P127Q	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	223	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ACTTCATTCCCGTTGTCAGTA	0.413000													5	93					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178921552A>T	uc003fjk.3	+	4	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	345					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(45)|p.N345I(7)|p.V344G(5)|p.V344A(3)|p.V344M(3)|p.N345S(2)|p.N345D(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACCTACGTGAATGTAAATATT	0.303000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	105					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19428054	19428054	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:19428054G>T	uc001bbi.3	-	87	12987	c.12983C>A	c.(12982-12984)cCg>cAg	p.P4328Q	UBR4_uc010ocv.2_5'Flank|UBR4_uc009vph.3_5'Flank|UBR4_uc010ocw.2_Missense_Mutation_p.P19Q|UBR4_uc001bbg.3_Missense_Mutation_p.P39Q|UBR4_uc001bbh.3_Missense_Mutation_p.P37Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4328					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GATGAACACCGGGGTCCGGTA	0.527000													5	120					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43174217	43174217	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:43174217C>A	uc003ouk.3	+	25	5256	c.5181C>A	c.(5179-5181)gcC>gcA	p.A1727A	CUL9_uc003oul.3_Silent_p.A1727A|CUL9_uc010jyk.3_Silent_p.A879A	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1727					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.A1727S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTGTGATGCCCTTGACCGTT	0.542000													6	74					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125461937	125461937	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:125461937C>A	uc001ugy.3	-	4	937	c.838G>T	c.(838-840)Ggg>Tgg	p.G280W		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	280	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTGGTCTTCCCGCTGCCGGTC	0.572000													6	151					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108509672	108509672	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:108509672C>A	uc003ymn.3	-	0	583	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	ANGPT1_uc003ymo.3_Missense_Mutation_p.G39W	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	39					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GCACATTGCCCATGTTGAATC	0.493000													5	74					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689354	109689354	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:109689354C>A	uc004bcz.3	+	2	3450	c.3161C>A	c.(3160-3162)cCc>cAc	p.P1054H	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P902H|ZNF462_uc004bda.3_Missense_Mutation_p.P902H	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1054					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGAAACACCCCGAAGAAAAG	0.443000													7	188					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185252859	185252859	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:185252859C>A	uc003fpm.3	-	1	221	c.111G>T	c.(109-111)acG>acT	p.T37T	LIPH_uc010hyh.3_Silent_p.T37T	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	37					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.T37T(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CATTTAGTCCCGTACCAACCA	0.448000													6	178					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12811798	12811798	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:12811798G>T	uc001ilo.3	+	5	800	c.565_splice	c.e5+1	p.A189_splice	CAMK1D_uc001iln.3_Splice_Site_p.A189_splice	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	189	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		AGGCTATGTCGGTAAGGACAG	0.473000													6	131					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833153	31833153	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31833153C>A	uc010jti.3	-	16	1765	c.1699G>T	c.(1699-1701)Ggg>Tgg	p.G567W	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Missense_Mutation_p.G491W|SLC44A4_uc011dom.2_Missense_Mutation_p.G525W	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	567						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.Y566Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAATTCTTCCCGTAGATGGCG	0.547000													6	172					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78927907	78927907	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:78927907C>A	uc002bed.1	-	1	190	c.78G>T	c.(76-78)gcG>gcT	p.A26A	CHRNB4_uc002bee.1_Silent_p.A26A|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	26					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GCTTTTCCTCCGCATTGGCCA	0.582000													7	371					0	0	1	0	0
DHRS1	115817	broad.mit.edu	37	14	24765763	24765763	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24765763C>A	uc001woj.2	-	3	595	c.326G>T	c.(325-327)tGg>tTg	p.W109L	HP08474_uc021rro.1_Intron|DHRS1_uc010aln.2_5'Flank|DHRS1_uc001wok.3_Missense_Mutation_p.W109L	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 1 (DHRS1), transcript variant 2, mRNA.	109						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		AGGGGTTTCCCAGAATGCCTT	0.552000											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	116					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121508959	121508959	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:121508959G>T	uc010hre.1	-	10	1305	c.1090C>A	c.(1090-1092)Cga>Aga	p.R364R	IQCB1_uc010hrf.1_Non-coding_Transcript|IQCB1_uc003eek.2_Silent_p.R231R	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.	364					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	p.R364R(2)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TGCAATTCTCGGGAAAGTCTC	0.378000													5	175					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111591264	111591264	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:111591264G>T	uc001plt.3	+	10	1676	c.1558G>T	c.(1558-1560)Ggg>Tgg	p.G520W		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	520					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATGATATGGGGTCTGTTCA	0.453000													6	92					0	0	1	0	0
ZFP161	7541	broad.mit.edu	37	18	5290949	5290949	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:5290949G>T	uc002kmq.3	-	3	1420	c.1258C>A	c.(1258-1260)Ccc>Acc	p.P420T	ZFP161_uc002kmr.3_Missense_Mutation_p.P420T|ZFP161_uc010dkp.3_Missense_Mutation_p.P420T|ZFP161_uc021ugn.1_Missense_Mutation_p.P420T	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	420					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						ATGGCACTGGGGGTAACCTGC	0.547000													7	125					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64574302	64574302	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:64574302C>A	uc001xgl.3	+	64	12816	c.12586C>A	c.(12586-12588)Cta>Ata	p.L4196I	SYNE2_uc001xgm.3_Missense_Mutation_p.L4196I|SYNE2_uc021ruh.1_Missense_Mutation_p.L4211I|SYNE2_uc010apy.3_Missense_Mutation_p.L581I|SYNE2_uc010apz.1_Missense_Mutation_p.L88I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4196					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAATGTTCCCTAAGGCCCAA	0.453000													7	202					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61178461	61178461	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:61178461C>A	uc001nrq.3	-	8	1504	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L	CPSF7_uc001nrp.3_Missense_Mutation_p.R500L|CPSF7_uc001nrr.3_Missense_Mutation_p.R448L	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	457	Arg-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding	p.R457W(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTCATGCTCCCGGTTCCTTTC	0.542000													6	184					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680629	100680629	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:100680629C>A	uc003uxp.1	+	2	5985	c.5932C>A	c.(5932-5934)Cca>Aca	p.P1978T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1978	59 X approximate tandem repeats.|Ser-rich.					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)					CATGCCAACCCCAGCTTATAG	0.502000													9	389					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18232505	18232505	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:18232505G>T	uc002nhz.4	+	2	82	c.82G>T	c.(82-84)Ggg>Tgg	p.G28W		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	28							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTGCCGCAGCGGGAACCGCAA	0.682000													5	118					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188056	152188056	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:152188056C>A	uc001ezt.1	-	2	6125	c.6049G>T	c.(6049-6051)Ggg>Tgg	p.G2017W		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2017					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGCCCATGGGTAGAG	0.562000													14	684					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29638168	29638168	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:29638168G>T	uc001bru.3	+	21	3128	c.2999G>T	c.(2998-3000)cGg>cTg	p.R1000L	PTPRU_uc009vtq.3_Missense_Mutation_p.R996L|PTPRU_uc009vtr.3_Missense_Mutation_p.R987L|PTPRU_uc001brw.3_Missense_Mutation_p.R990L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1000	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AAATGCTCACGGTACTGGCCG	0.617000													4	101					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95259849	95259849	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:95259849G>T	uc001kiq.4	+	1	345	c.41G>T	c.(40-42)tGg>tTg	p.W14L	CEP55_uc009xug.3_Missense_Mutation_p.W14L	NM_018131	NP_060601	Q53EZ4	CEP55_HUMAN	Homo sapiens centrosomal protein 55kDa (CEP55), transcript variant 1, mRNA.	14					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAAAGTAAGTGGGGATCGAAG	0.318000													7	242					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78346441	78346441	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:78346441C>A	uc002bcy.4	-	1	449	c.449G>T	c.(448-450)tGg>tTg	p.W150L	TBC1D2B_uc010bla.3_Missense_Mutation_p.W150L	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	150						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTGCTGTCCCACTTGACCAT	0.488000													6	139					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832650	130832650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:130832650C>A	uc010fmh.2	-	16	2795	c.2395G>T	c.(2395-2397)Gag>Tag	p.E799*		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	799	Actin-like.					cell cortex	ATP binding	p.E799K(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGTGCTCCTCGGGAGCCACA	0.577000													6	165					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39747939	39747939	+	Silent	SNP	C	C	T	rs143261539		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:39747939C>T	uc021olt.1	+	5	655	c.603C>T	c.(601-603)ctC>ctT	p.L201L	MACF1_uc021ols.1_Silent_p.L201L|MACF1_uc001cdc.2_Silent_p.L201L|MACF1_uc001cda.1_Silent_p.L109L|MACF1_uc010oit.1_Silent_p.L164L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	201	Actin-binding.|CH 2.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAACTACTCCTGTGGACCC	0.438000													7	92					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32364115	32364115	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:32364115C>A	uc004dda.1	-	38	5775	c.5531G>T	c.(5530-5532)cGa>cTa	p.R1844L	DMD_uc004dcw.2_Missense_Mutation_p.R500L|DMD_uc004dcx.2_Missense_Mutation_p.R503L|DMD_uc004dcz.2_Missense_Mutation_p.R1721L|DMD_uc004dcy.1_Missense_Mutation_p.R1840L|DMD_uc004ddb.1_Missense_Mutation_p.R1836L|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1844	Interaction with SYNM (By similarity).		R -> S (in dbSNP:rs1801186).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TATTTCCTCTCGCTTTCTCTC	0.338000													4	43					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24799472	24799472	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24799472C>A	uc001wow.3	-	6	1379	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ADCY4_uc010toh.2_Silent_p.L6L|ADCY4_uc001wox.3_Silent_p.L320L|ADCY4_uc001woy.3_Silent_p.L320L	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	320					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AACAGTCCCCCAGGATCTTGA	0.567000													5	57					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126319956	126319956	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:126319956G>T	uc003ifj.4	+	1	5193	c.5193G>T	c.(5191-5193)caG>caT	p.Q1731H	FAT4_uc011cgp.2_Missense_Mutation_p.Q29H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1731	Cadherin 16.				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						TAACACTTCAGGATATCAATG	0.428000													6	126					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15809829	15809829	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:15809829C>A	uc001awl.3	+	4	452	c.427C>A	c.(427-429)Cct>Act	p.P143T		NM_015849	NP_056933	P08218	CEL2B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA.	143	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GGCCTGCCTCCCTCCTGCCGG	0.632000													6	91					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24298630	24298630	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:24298630C>A	uc003xeb.3	+	0	122	c.9C>A	c.(7-9)ccC>ccA	p.P3P	ADAM7_uc003xea.1_Silent_p.P3P	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	3					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P3P(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GAATGCTTCCCGGGTGTATAT	0.428000													4	85					0	0	1	0	0
GNA12	2768	broad.mit.edu	37	7	2771007	2771007	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:2771007C>A	uc003smu.3	-	3	1118	c.954G>T	c.(952-954)agG>agT	p.R318S	GNA12_uc011jwb.2_Missense_Mutation_p.R301S|GNA12_uc003smt.3_Missense_Mutation_p.R259S	NM_007353	NP_031379	Q03113	GNA12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein) alpha 12 (GNA12), mRNA.	318					G-protein signaling, coupled to cAMP nucleotide second messenger|Rho protein signal transduction|platelet activation	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCGGGTCGCCCCTGAAGTCCG	0.567000													6	76					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18775837	18775837	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:18775837C>A	uc004cyq.3	+	7	970	c.489C>A	c.(487-489)ccC>ccA	p.P163P	PPEF1_uc004cyp.3_Silent_p.P163P|PPEF1_uc004cyr.3_Silent_p.P163P|PPEF1_uc004cys.3_Silent_p.P163P|PPEF1_uc011mja.2_Silent_p.P98P|PPEF1_uc011mjb.2_Silent_p.P107P	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	163	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AAACTTCTCCCTCCAAAGAGG	0.408000													6	108					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207870915	207870915	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:207870915C>A	uc001hga.4	+	5	1051	c.930C>A	c.(928-930)ccC>ccA	p.P310P	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	310	Sushi 5.					cytoplasm|extracellular region|membrane		p.P318P(1)|p.P310P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACTTTTCACCCGGGCAGGAAG	0.552000													7	236					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	427995	427995	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:427995C>A	uc003jav.3	+	8	891	c.848C>A	c.(847-849)cCg>cAg	p.P283Q	AHRR_uc003jaw.3_Missense_Mutation_p.P265Q|AHRR_uc010isy.3_Missense_Mutation_p.P111Q|AHRR_uc010isz.3_Missense_Mutation_p.P261Q|AHRR_uc003jax.3_Missense_Mutation_p.P24Q|AHRR_uc003jay.3_Missense_Mutation_p.P121Q	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCATGCTCCCGCCGCGGCTG	0.557000													4	43					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184682	72184682	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72184682C>A	uc002fcc.4	-	4	633	c.461G>T	c.(460-462)gGg>gTg	p.G154V	PMFBP1_uc002fcd.3_Missense_Mutation_p.G154V|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.G9V	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	154										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGCTTCTCCCCTGTGTTCTC	0.493000													7	117					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38370169	38370169	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:38370169G>T	uc003aun.1	-	3	1012	c.734C>A	c.(733-735)cCg>cAg	p.P245Q	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P245Q	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	245						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	p.P245P(1)		NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CTCTGTCTTCGGGGTGGTTGG	0.657000													8	185					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62444334	62444334	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62444334G>T	uc001nuj.3	-	7	927	c.795C>A	c.(793-795)ccC>ccA	p.P265P	UBXN1_uc001nul.2_Silent_p.P265P|UBXN1_uc001nuk.3_3'UTR|UBXN1_uc010rme.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	Homo sapiens UBX domain protein 1 (UBXN1), mRNA.	265	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						AGGCCCGTCTGGGGAAGCCAC	0.612000													7	192					0	0	1	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83820095	83820095	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:83820095G>T	uc002bjs.1	-	4	633	c.478C>A	c.(478-480)Cgg>Agg	p.R160R		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	Homo sapiens hepatoma-derived growth factor, related protein 3 (HDGFRP3), mRNA.	160					cell proliferation	nucleus	growth factor activity	p.R160Q(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GGAGATTTCCGGGACTGTTTA	0.393000													5	63					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091898	30091898	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:30091898C>A	uc010dmc.3	+	0		c.273C>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		AAAGGAAGCCCGGAACAGAAG	0.423000													4	58					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238738070	238738070	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:238738070C>A	uc002vxi.4	+	12	2946	c.2814C>A	c.(2812-2814)tcC>tcA	p.S938S		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	937							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAGAATTCTCCATTTCTAGAT	0.413000													7	150					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58014048	58014048	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:58014048G>T	uc001spe.3	+	0	356	c.45G>T	c.(43-45)ctG>ctT	p.L15L	BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	15						integral to membrane	antiporter activity	p.G16*(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTAAGAGTCTGGGAAGTGCAT	0.532000													7	274					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27962986	27962986	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:27962986C>A	uc002heo.1	-	14	2181	c.2181_splice	c.e14+1	p.K727_splice	SSH2_uc010wbh.1_Splice_Site_p.K754_splice	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	727					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGTTTTTACCTTTGACTGTT	0.393000													8	209					0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84644322	84644322	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:84644322T>C	uc003pkf.3	+	10	955	c.823T>C	c.(823-825)Tac>Cac	p.Y275H		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	275	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGGTTTGTACTACAGAAAGTG	0.358000													15	20					0	0	1	0	0
C2orf80	389073	broad.mit.edu	37	2	209047698	209047698	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:209047698C>A	uc002vcr.3	-	3	369	c.197G>T	c.(196-198)tGg>tTg	p.W66L		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	66										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CAGTTCCTCCCACTCCAGCCA	0.453000													7	207					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586236	54586236	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:54586236G>T	uc021smr.1	+	8	3956	c.3956G>T	c.(3955-3957)gGa>gTa	p.G1319V	UNC13C_uc021sms.1_Missense_Mutation_p.G1321V|UNC13C_uc002acl.3_Missense_Mutation_p.G151V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1321					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCTTGAGTGGAGAAATGGAT	0.353000													7	215					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99691010	99691010	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:99691010C>A	uc003usw.1	-	13	2373	c.1863G>T	c.(1861-1863)atG>atT	p.M621I	MCM7_uc003usv.1_Missense_Mutation_p.M445I|MCM7_uc003usx.1_Missense_Mutation_p.M445I|DD413568_uc022aif.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	621	Interaction with ATRIP.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCACATCCACCATTCTCAGAC	0.537000													6	175					0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42933787	42933787	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:42933787C>A	uc003otf.3	-	11	2450	c.2357G>T	c.(2356-2358)cGg>cTg	p.R786L	PEX6_uc010jya.3_Intron	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	786					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTCACCTTCCCGCACATTCTC	0.577000													7	186					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39542554	39542554	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:39542554G>T	uc001uwx.3	-	5	772	c.634C>A	c.(634-636)Cgg>Agg	p.R212R	STOML3_uc010tez.2_Silent_p.R203R	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane		p.R212Q(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CTCGCTTCCCGGGTGGCCTCA	0.567000													4	76					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37366440	37366440	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:37366440G>T	uc003cgv.3	+	13	3423	c.3063G>T	c.(3061-3063)ctG>ctT	p.L1021L	GOLGA4_uc010hgr.2_Silent_p.L582L|GOLGA4_uc003cgw.3_Silent_p.L1043L|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Silent_p.L902L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1021	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTCAAGACTGGAAACAAACC	0.393000													6	66					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152404242	152404242	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:152404242C>A	uc021vrb.1	-	102	15094	c.15065G>T	c.(15064-15066)cGg>cTg	p.R5022L	NEB_uc002txr.3_Missense_Mutation_p.R1488L|NEB_uc002txu.3_Missense_Mutation_p.R6723L|NEB_uc021vrc.1_Missense_Mutation_p.R6723L|NEB_uc010fnx.3_Missense_Mutation_p.R5010L|NEB_uc021vrd.1_Missense_Mutation_p.R5022L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5022					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACAATTCCCGATACAGTCT	0.438000													3	24					0	0	1	0	0
MNT	4335	broad.mit.edu	37	17	2290812	2290812	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:2290812G>T	uc002fur.3	-	5	1384	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	378					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		tgtggaggcagaggcgcaggg	0.711000													6	119					0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132966571	132966571	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:132966571C>A	uc003qdm.1	-	0	572	c.572G>T	c.(571-573)gGg>gTg	p.G191V		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	191						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	GGTCAGTACCCCAGATATTTT	0.348000													6	114					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100866268	100866268	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:100866268G>T	uc003yiv.3	+	55	10837	c.10726G>T	c.(10726-10728)Gcc>Tcc	p.A3576S	VPS13B_uc003yiw.3_Missense_Mutation_p.A3551S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3576					protein transport			p.A3576T(2)|p.A3551T(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACACAGCACGCCAGGGCCTT	0.537000													4	105					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714814	138714814	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:138714814G>T	uc004cgr.4	-	10	1693	c.1693C>A	c.(1693-1695)Cgg>Agg	p.R565R	CAMSAP1_uc004cgq.4_Silent_p.R455R|CAMSAP1_uc010nbg.3_Silent_p.R287R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	565						cytoplasm|microtubule		p.R565L(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTAAGGCCCGGGGTGAGGCC	0.562000													6	232					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25676197	25676197	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:25676197C>A	uc003grr.3	+	11	1485	c.1404C>A	c.(1402-1404)acC>acA	p.T468T	SLC34A2_uc003grs.3_Silent_p.T467T|SLC34A2_uc010iev.3_Silent_p.T467T	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	468					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCACCACCACCGCCATCCTGG	0.592000			T	ROS1	NSCLC								5	123					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102996	22102996	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22102996C>A	uc010tmc.2	-	0	3	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TGGTCTTTCCCATGTCTTTTT	0.443000													8	117					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27380508	27380508	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:27380508G>T	uc002hdr.1	+	3	881	c.555G>T	c.(553-555)acG>acT	p.T185T		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	185					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	p.T185M(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TACTGGTCACGGTGAAAACCA	0.562000													5	88					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153748239	153748239	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:153748239G>T	uc001fcz.3	+	0	472	c.407G>T	c.(406-408)cGg>cTg	p.R136L	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	136					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACGGCTCGCGGCGCTTTAGC	0.711000													3	10					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216634	111216634	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:111216634G>T	uc001dzv.1	-	0	1022	c.798C>A	c.(796-798)ccC>ccA	p.P266P		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	266						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACGTCGAGGCGGGGTAGTCCT	0.637000													4	84					0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24019135	24019135	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:24019135C>T	uc001bhk.3	+	1	88	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RPL11_uc001bhl.3_Missense_Mutation_p.L14F	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	15					endocrine pancreas development|protein localization to nucleus|protein targeting|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATGCGGGAACTTCGCATCCG	0.547000													8	145					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181708361	181708361	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:181708361G>A	uc009wxt.3	+	24	3886	c.3691G>A	c.(3691-3693)Gtt>Att	p.V1231I	CACNA1E_uc001gow.3_Missense_Mutation_p.V1231I|CACNA1E_uc009wxs.3_Missense_Mutation_p.V1212I|CACNA1E_uc001gox.1_Missense_Mutation_p.V457I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1231	Poly-Val.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTGGTGGTCGTTGGCGCATT	0.502000													52	144					0	0	1	0	0
MPDU1	9526	broad.mit.edu	37	17	7489085	7489085	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:7489085G>T	uc002ghx.3	+	1	355	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	MPDU1_uc010vub.2_5'UTR|MPDU1_uc002ghw.3_Missense_Mutation_p.G47W|MPDU1_uc010vuc.1_Missense_Mutation_p.G47W			O75352	MPU1_HUMAN	Homo sapiens mannose-P-dolichol utilization defect 1 (MPDU1), transcript variant 1, mRNA.	47	PQ-loop 1.				dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						CAAAGGCCTGGGGCTGGGCAT	0.542000													6	124					0	0	1	0	0
FCER2	2208	broad.mit.edu	37	19	7764643	7764643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:7764643C>A	uc002mhn.3	-	1	221	c.4G>T	c.(4-6)Gag>Tag	p.E2*	FCER2_uc021unx.1_5'Flank|FCER2_uc002mhm.2_Nonsense_Mutation_p.E2*|FCER2_uc010xjt.2_5'UTR|FCER2_uc010dvo.2_Nonsense_Mutation_p.E2*	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	2					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGACCTTCCTCCATGGCGGTC	0.542000													6	73					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75104886	75104886	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:75104886G>T	uc009xrc.3	-	5	667	c.546C>A	c.(544-546)tcC>tcA	p.S182S	TTC18_uc001jty.3_Silent_p.S182S|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	182							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGGAATGAAGGATTCAGGCA	0.478000													8	231					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65502087	65502087	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:65502087C>A	uc002aon.2	-	1	188	c.7G>T	c.(7-9)Ggg>Tgg	p.G3W		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	3					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.G3R(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCTTGGTCCCCACCATCTTT	0.552000													5	57					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38261497	38261497	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:38261497C>A	uc001cby.2	+	1	720	c.639C>A	c.(637-639)acC>acA	p.T213T	MANEAL_uc001cbx.2_Silent_p.T213T|MANEAL_uc001cbz.2_Missense_Mutation_p.P17Q	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	Homo sapiens mannosidase, endo-alpha-like (MANEAL), transcript variant 3, mRNA.	213						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCTGGACACCGCCCATCAGT	0.602000													5	68					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72178129	72178129	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:72178129C>A	uc002llm.2	+	5	797	c.538C>A	c.(538-540)Cgg>Agg	p.R180R	CNDP2_uc002lln.2_Silent_p.R96R	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	180						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GATTTTTGCCCGGAAAGACAC	0.517000													4	95					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20066601	20066601	+	Missense_Mutation	SNP	G	G	T	rs146962426		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:20066601G>T	uc010rdm.2	+	14	3717	c.3356G>T	c.(3355-3357)cGg>cTg	p.R1119L	NAV2_uc001mpp.3_Missense_Mutation_p.R1032L|NAV2_uc001mpr.4_Missense_Mutation_p.R1096L|NAV2_uc021qew.1_Missense_Mutation_p.R1096L|NAV2_uc001mpt.2_Missense_Mutation_p.R182L|NAV2_uc009yhx.3_Missense_Mutation_p.R182L|NAV2_uc009yhy.1_Missense_Mutation_p.R95L	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1119						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GATGCAGGCCGGAGCAGTGGT	0.542000													4	67					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584430	88584430	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:88584430C>A	uc003hqv.3	+	5	1604	c.1500C>A	c.(1498-1500)ccC>ccA	p.P500P	DMP1_uc003hqw.3_Silent_p.P484P	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	500					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ACAACAAACCCATTGGGGACC	0.443000													6	169					0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125919688	125919688	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:125919688C>A	uc003ktx.3	-	3	521	c.329G>T	c.(328-330)cGa>cTa	p.R110L	ALDH7A1_uc011cxa.2_Missense_Mutation_p.R137L	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	110					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TATTTCTCCTCGTTTTGGAGC	0.353000													4	84					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21375050	21375050	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:21375050G>T	uc001unq.4	-	13	1933	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	633					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTGCCCATCTGGGGACTTAGT	0.393000													6	131					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49646129	49646129	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:49646129G>T	uc002pmr.3	+	20	2945	c.2613G>T	c.(2611-2613)atG>atT	p.M871I	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.M739I|PPFIA3_uc002pmt.3_Missense_Mutation_p.M19I	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	871	SAM 1.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGCCATCATGGCCAACCTGT	0.642000													5	96					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080848	126080848	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:126080848C>A	uc003qad.3	+	4	1105	c.914C>A	c.(913-915)cCg>cAg	p.P305Q	HEY2_uc011ebr.2_Missense_Mutation_p.P259Q	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	305					Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GCCATCAGCCCGCCCTTGTCA	0.597000													6	189					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151752577	151752577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:151752577C>A	uc009wnb.1	-	3	453	c.271G>T	c.(271-273)Gag>Tag	p.E91*	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Nonsense_Mutation_p.E87*|TDRKH_uc001ezc.4_Nonsense_Mutation_p.E91*|TDRKH_uc001eza.4_Nonsense_Mutation_p.E91*|TDRKH_uc001ezd.4_Nonsense_Mutation_p.E91*|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	91	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTACATCCTCTGTGTCCACA	0.507000													7	130					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926456	22926456	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:22926456C>A	uc002dli.3	+	1	749	c.677C>A	c.(676-678)cCg>cAg	p.P226Q		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	226						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCCGACATCCCGACCTTTGAG	0.602000													5	129					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29747418	29747418	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:29747418G>T	uc001iut.1	-	36	7256	c.6503C>A	c.(6502-6504)cCg>cAg	p.P2168Q	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.P1082Q|SVIL_uc001iuu.1_Missense_Mutation_p.P1742Q	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	2168	HP.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GACCCCCTCCGGGAGTGGCCT	0.557000													4	68					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51089685	51089685	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:51089685G>T	uc001rwv.3	+	15	2024	c.1868G>T	c.(1867-1869)cGg>cTg	p.R623L	DIP2B_uc009zlt.3_Missense_Mutation_p.R53L	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	623						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ATGGCACATCGGGACCAAAGA	0.423000													5	154					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226573330	226573330	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:226573330C>A	uc001hqd.4	-	6	1057	c.886G>T	c.(886-888)Gag>Tag	p.E296*		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	296					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GAGCATTCCTCGCAGGGAAGG	0.547000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	104					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30067852	30067852	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:30067852G>T	uc003age.4	+	10	1480	c.1037G>T	c.(1036-1038)aGg>aTg	p.R346M	NF2_uc003afy.4_Missense_Mutation_p.R346M|NF2_uc003afz.4_Missense_Mutation_p.R263M|NF2_uc003agf.4_Missense_Mutation_p.R346M|NF2_uc003agb.4_Missense_Mutation_p.R269M|NF2_uc003agc.4_Missense_Mutation_p.R308M|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Missense_Mutation_p.R346M|NF2_uc003aga.4_Missense_Mutation_p.R304M|NF2_uc003agh.4_Missense_Mutation_p.R305M|NF2_uc003agi.4_Missense_Mutation_p.R263M|NF2_uc003agj.4_Intron|NF2_uc010gvp.3_Intron|NF2_uc011akq.2_5'Flank	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	346	Glu-rich.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.M334_Q362del(2)|p.M334fs*4(1)|p.R346S(1)|p.E342fs*15(1)|p.L127_D382del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AAGCAGATGAGGGAGGAGGCT	0.562000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				5	76					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56371580	56371580	+	Missense_Mutation	SNP	C	C	A	rs59278176		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:56371580C>A	uc003pcy.4	-	56	11486	c.11378G>T	c.(11377-11379)aGg>aTg	p.R3793M		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6205					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATTTCTTCCCTTATGGTCTA	0.368000													9	174					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741321	207741321	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:207741321C>A	uc001hfy.3	+	16	2895	c.2755C>A	c.(2755-2757)Cgc>Agc	p.R919S	CR1_uc009xcl.1_Missense_Mutation_p.R469S|CR1_uc001hfx.3_Missense_Mutation_p.R1369S|CR1_uc021pij.1_Missense_Mutation_p.R919S|CR1_uc009xck.1_Missense_Mutation_p.R469S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	919	Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGCACCATCCGCTGCACAAG	0.542000													6	200					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50279700	50279700	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:50279700C>A	uc001zxu.3	-	9	778	c.636G>T	c.(634-636)atG>atT	p.M212I	ATP8B4_uc010ber.3_Missense_Mutation_p.M85I|ATP8B4_uc010ufd.2_Missense_Mutation_p.M85I|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	212					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAAGGATTCCCATGAATTTAT	0.393000													5	87					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855162	79855162	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:79855162G>T	uc010jam.3	-	3	1027	c.677C>A	c.(676-678)cCa>cAa	p.P226Q	ANKRD34B_uc003kgw.3_Missense_Mutation_p.P226Q|ANKRD34B_uc010jan.3_Missense_Mutation_p.P226Q|ANKRD34B_uc021yax.1_Missense_Mutation_p.P226Q	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	226						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AGGGGAACCTGGGTCCCAGGT	0.527000													6	60					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18764949	18764949	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:18764949C>A	uc001mpd.3	-	4	750	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	PTPN5_uc001mpb.3_Intron|PTPN5_uc001mpc.3_Missense_Mutation_p.G107C|PTPN5_uc010rdj.2_Intron|PTPN5_uc001mpf.3_Missense_Mutation_p.G83C|PTPN5_uc001mpe.3_Intron|PTPN5_uc010rdk.2_Missense_Mutation_p.G52C	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	107				G -> A (in Ref. 2; CAD38632).		integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.G107S(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGGCCATAACCGCTGAACCAG	0.607000													4	77					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100503185	100503185	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:100503185A>G	uc011cej.2	+	1	279	c.266A>G	c.(265-267)aAc>aGc	p.N89S	MTTP_uc003hvc.4_Missense_Mutation_p.N62S|MTTP_uc003hvb.3_Missense_Mutation_p.N62S	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	62	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.N88N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATTTCCTCCAACGTGGATGTG	0.463000													32	103					0	0	1	0	0
HMBS	3145	broad.mit.edu	37	11	118959361	118959361	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:118959361C>T	uc001puz.1	+	2	261	c.104C>T	c.(103-105)aCg>aTg	p.T35M	HMBS_uc009zao.2_5'UTR|HMBS_uc001pva.1_Missense_Mutation_p.T35M|HMBS_uc001pve.1_Missense_Mutation_p.T18M|HMBS_uc001pvf.1_Missense_Mutation_p.T18M	NM_000190	NP_001019553	P08397	HEM3_HUMAN	Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA.	35			T -> M (in AIP).		peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	p.T35T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CGCATACAGACGGACAGTGTG	0.522000													13	98					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	978217	978217	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:978217C>A	uc021qss.1	+	8	3968	c.3325C>A	c.(3325-3327)Cag>Aag	p.Q1109K	WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Missense_Mutation_p.Q1194K|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Missense_Mutation_p.Q408K	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	855					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AACCACATCTCAGCAGGTCTT	0.438000													8	350					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19477100	19477100	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:19477100G>T	uc001bbi.3	-	48	7405	c.7401C>A	c.(7399-7401)ccC>ccA	p.P2467P	UBR4_uc001bbk.1_Silent_p.P121P	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2467					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTCGTAGTGGGGGCAGCTG	0.532000													8	156					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454723	84454723	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:84454723C>A	uc001vlk.3	-	0	1806	c.920G>T	c.(919-921)gGa>gTa	p.G307V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	307						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTTGTACCTCCGTTTGGAGC	0.542000													7	67					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154875945	154875945	+	Silent	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:154875945G>A	uc003wlu.1	+	1	886	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	274						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AAGGGGACACGTGGCGGGAGC	0.607000													13	39					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74654604	74654604	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:74654604C>A	uc002sle.3	-	9	1319	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	RTKN_uc002slc.3_Missense_Mutation_p.R388L|RTKN_uc002sld.3_Missense_Mutation_p.R351L	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	401	PH.			REALQS -> LETLQN (in Ref. 3; AAG01181).	Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	p.R401L(2)|p.R388L(1)		endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CAGTGCTTCCCGACTTTCTGT	0.542000													9	335					0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169697882	169697882	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:169697882C>A	uc003man.1	-	6	571	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W	LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	122					T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCATCCTCCCCATCCTGGTCA	0.547000													4	38					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612221	20612221	+	Silent	SNP	G	G	T	rs138565527		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:20612221G>T	uc010tla.2	+	0	327	c.327G>T	c.(325-327)gcG>gcT	p.A109A		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A109A(2)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTGGAGCGGGAGAGATGT	0.488000													7	216					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89386855	89386855	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:89386855C>A	uc010upo.1	+	5	1401	c.1027C>A	c.(1027-1029)Cgc>Agc	p.R343S	ACAN_uc002bmx.3_Missense_Mutation_p.R343S|ACAN_uc010upp.1_Missense_Mutation_p.R343S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	343					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCCTCATCCCGCTACGACGC	0.632000													5	102					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13121773	13121773	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:13121773C>A	uc010mia.1	-	36	5253	c.5196G>T	c.(5194-5196)ccG>ccT	p.P1732P	MPDZ_uc003zkx.4_5'Flank|MPDZ_uc003zky.4_Silent_p.P266P|MPDZ_uc010mib.3_Silent_p.P437P|MPDZ_uc010mhx.3_Silent_p.P554P|MPDZ_uc011lmm.2_Silent_p.P591P|MPDZ_uc003zkz.4_Silent_p.P425P|MPDZ_uc010mhz.3_Silent_p.P1699P|MPDZ_uc011lmn.2_Silent_p.P1699P|MPDZ_uc010mhy.3_Silent_p.P1732P|MPDZ_uc003zlb.4_Silent_p.P1732P	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1732	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCCTTTTCCCGGCTTCTTCT	0.468000													4	111					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993432	72993432	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72993432C>A	uc002fck.3	-	1	1286	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	205					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACCATTTCCCGAAGGATGAG	0.617000													5	95					0	0	1	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47978927	47978927	+	RNA	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:47978927G>T	uc022bvt.1	+	6		c.550G>T				NM_001205103		B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										ACCCAAAAGGGGGAAACATGC	0.507000													8	238					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691124	49691124	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:49691124G>T	uc003cxe.4	+	4	4249	c.4135G>T	c.(4135-4137)Ggg>Tgg	p.G1379W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1379					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAGGGCCCTGGGACCCCAGC	0.622000													5	103					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089782	31089782	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:31089782G>T	uc002eap.3	+	1	2426	c.2137G>T	c.(2137-2139)Ggg>Tgg	p.G713W	ZNF646_uc021tgu.1_Missense_Mutation_p.G713W	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	713					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGACCCTTCAGGGGAAAGTCC	0.582000													6	88					0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561192	29561192	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:29561192G>T	uc001zco.3	-	0	829	c.718C>A	c.(718-720)Cac>Aac	p.H240N	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	Homo sapiens necdin-like 2 (NDNL2), mRNA.	240	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGTCGGTGTGGGGTATCCGC	0.502000													6	100					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785403	60785403	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:60785403C>A	uc001nqq.3	+	10	1980	c.1755C>A	c.(1753-1755)ccC>ccA	p.P585P	CD6_uc001nqp.3_Silent_p.P585P|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.P553P|CD6_uc001nqt.3_Silent_p.P544P	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	585					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CATGGAACCCCCAGGTGTTTT	0.582000													6	112					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335306	20335306	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:20335306C>A	uc002dgv.3	-	2	450	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	GP2_uc002dgw.3_Missense_Mutation_p.G123W|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	123						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGTGGGTCCCATTCAGCCAC	0.592000													5	92					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37149905	37149905	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:37149905C>A	uc001wtz.2	-	9	1168	c.858G>T	c.(856-858)ctG>ctT	p.L286L	SLC25A21_uc021rsf.1_Silent_p.L286L	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ATTCATAAACCAGCAGCATCA	0.418000													5	110					0	0	1	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783602	149783602	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:149783602G>T	uc010pbk.2	-	0	327	c.277C>A	c.(277-279)Cgc>Agc	p.R93S	HIST2H2BF_uc010pbj.2_Missense_Mutation_p.R93S|HIST2H2BF_uc001esr.3_Missense_Mutation_p.R93S	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H2bf (HIST2H2BF), transcript variant 1, mRNA.	93					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGGATCTCGCGGGATGTGATG	0.647000													4	74					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990960	39990960	+	Missense_Mutation	SNP	C	C	A	rs142271291		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:39990960C>A	uc002xjy.1	-	3	1473	c.1249G>T	c.(1249-1251)Ggg>Tgg	p.G417W		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	417						proteinaceous extracellular matrix		p.A416A(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGCTCATCCCCGGCCGGGGCA	0.642000													5	107					0	0	1	0	0
RHBDL1	9028	broad.mit.edu	37	16	726866	726866	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:726866C>A	uc002cis.1	+	1	618	c.591C>A	c.(589-591)ccC>ccA	p.P197P	RHBDL1_uc002cir.1_Silent_p.P132P|RHBDL1_uc010uun.1_Silent_p.P132P	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	197					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCCCACCCCCCGTGTTCATGG	0.667000													5	68					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1325908	1325908	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:1325908C>G	uc001afi.2	-	6	827	c.795G>C	c.(793-795)ttG>ttC	p.L265F	CCNL2_uc010nym.1_Non-coding_Transcript|CCNL2_uc001aff.1_Missense_Mutation_p.L43F|CCNL2_uc001afg.1_Missense_Mutation_p.L43F|CCNL2_uc001afj.2_Missense_Mutation_p.L43F	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	265	Cyclin-like 2.				RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTGCTCCAAACAAAAGAAACC	0.408000													23	78					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8396368	8396368	+	Silent	SNP	C	C	A	rs115315545	by1000genomes	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:8396368C>A	uc010idk.3	-	9	1303	c.1158G>T	c.(1156-1158)tcG>tcT	p.S386S	ACOX3_uc003glc.4_Silent_p.S386S|ACOX3_uc003gld.4_Silent_p.S386S	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	386					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGCGGTCTCCCGATGCAAGTC	0.537000													4	59					0	0	1	0	0
BTLA	151888	broad.mit.edu	37	3	112198518	112198518	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112198518A>G	uc003dza.4	-	1	390	c.187T>C	c.(187-189)Tgt>Cgt	p.C63R	BTLA_uc003dzb.4_Missense_Mutation_p.C63R	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	Homo sapiens B and T lymphocyte associated (BTLA), transcript variant 1, mRNA.	63	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CTGTTAGCACAGTATTTCACA	0.398000													46	75					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133220064	133220064	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:133220064C>A	uc001uks.1	-	33	4417	c.4373G>T	c.(4372-4374)tGg>tTg	p.W1458L	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.W262L|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.W1431L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1458					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTCTGCTTCCCAGCCTGAAAG	0.582000								DNA polymerases (catalytic subunits)					8	220					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1499951	1499951	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:1499951C>A	uc004cps.3	+	10	1365	c.1016C>A	c.(1015-1017)cCt>cAt	p.P339H	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.P261H	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	339						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCCGCATCCCTCACATGAAA	0.537000													9	385					0	0	1	0	0
COPS6	10980	broad.mit.edu	37	7	99689103	99689103	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:99689103C>A	uc003usu.3	+	8	834	c.803C>A	c.(802-804)cCg>cAg	p.P268Q	DD413568_uc022aif.1_5'Flank	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6), mRNA.	268	Interaction with Vpr.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	p.P268Q(2)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CACTGTCTCCCGGTGCTCAGC	0.493000											OREG0018195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	123					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21856706	21856706	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:21856706G>T	uc003xaa.4	+	22	2635	c.2533G>T	c.(2533-2535)Ggg>Tgg	p.G845W		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	845					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGCTCTCAGTGGGAGTTACGT	0.517000													7	216					0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54866780	54866780	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:54866780G>T	uc003xrp.3	+	4	980	c.888G>T	c.(886-888)gaG>gaT	p.E296D	RGS20_uc003xrq.3_Missense_Mutation_p.E181D|RGS20_uc010lye.3_Missense_Mutation_p.E88D|RGS20_uc010lyf.3_Missense_Mutation_p.E60D|RGS20_uc003xrs.3_Missense_Mutation_p.E149D|RGS20_uc003xrt.3_Missense_Mutation_p.E30D	NM_170587	NP_733466	O76081	RGS20_HUMAN	Homo sapiens regulator of G-protein signaling 20 (RGS20), transcript variant 1, mRNA.	296	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TGGCCTGTGAGGAACTGAAAA	0.388000													5	83					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137681005	137681005	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:137681005C>A	uc003lcv.3	+	3	1098	c.628C>A	c.(628-630)Cct>Act	p.P210T	FAM53C_uc003lcw.3_Missense_Mutation_p.P210T|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	210										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGCCGCCTCCCCTCAAAGTGG	0.637000													9	287					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93172860	93172860	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:93172860G>T	uc001yav.3	-	12	1520	c.1159C>A	c.(1159-1161)Cgg>Agg	p.R387R	LGMN_uc001yat.3_Intron|LGMN_uc001yau.3_Intron|LGMN_uc001yaw.3_Silent_p.R387R	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	387					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CAGTGGGTCCGGAAGTGCAGC	0.632000													6	84					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222166	42222166	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:42222166G>T	uc002orl.3	+	5	1478	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	CEACAM5_uc002orj.1_Missense_Mutation_p.G452W	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	453	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GCTGATTGATGGGAACATCCA	0.517000													5	89					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180772720	180772720	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:180772720C>A	uc001goi.3	+	3	612	c.420C>A	c.(418-420)ctC>ctA	p.L140L	XPR1_uc009wxm.2_Silent_p.L140L|XPR1_uc009wxn.3_Silent_p.L140L	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	140	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGTTCTACCTCAGTCTAATCC	0.403000													5	122					0	0	1	0	0
YIPF1	54432	broad.mit.edu	37	1	54344386	54344386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:54344386C>A	uc001cvu.3	-	4	576	c.205G>T	c.(205-207)Gga>Tga	p.G69*	YIPF1_uc001cvv.3_Non-coding_Transcript|YIPF1_uc001cvx.3_Non-coding_Transcript|YIPF1_uc001cvy.3_Non-coding_Transcript	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA.	69						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTCTTCTGTCCAGCAAGTAAC	0.393000													4	50					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	11	11374084	11374084	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:11374084G>T	uc001mjp.3	-	0	821	c.583C>A	c.(583-585)Cga>Aga	p.R195R	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	195	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTGAAGTATCGGGAAGCAACT	0.418000													6	126					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960476	51960476	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51960476C>A	uc002pwt.3	-	2	810	c.743G>T	c.(742-744)tGg>tTg	p.W248L	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.W155L	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	248	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGTCAAGTTCCAAGGAGGGTC	0.562000													6	89					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71944736	71944736	+	Silent	SNP	C	C	A	rs139798970		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:71944736C>A	uc001osf.3	+	18	2307	c.2160C>A	c.(2158-2160)ccC>ccA	p.P720P	INPPL1_uc001osg.3_Silent_p.P478P	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	720					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCATTCCCCCGTGTTTGGGA	0.547000													5	104					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179762879	179762879	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:179762879C>A	uc003mlw.1	-	3	387	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	97	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTGGGGACCCCGTGGGTGGCC	0.557000													5	59					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136626319	136626319	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:136626319C>A	uc002tuw.3	-	3	553	c.477G>T	c.(475-477)ttG>ttT	p.L159F		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	159					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCTGACAGTCCAAGCACAGAA	0.502000													6	122					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899835	112899835	+	Missense_Mutation	SNP	G	G	A	rs147886830		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:112899835G>A	uc004bei.2	+	8	2899	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.A671T|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.A671T|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A481T|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.A529T|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.A529T|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A489T|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.A440T|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.A440T	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	440							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATTTACGAGCGCCCGGGCTGT	0.537000													33	88					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770339	31770339	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:31770339G>T	uc002nsy.4	-	1	425	c.360C>A	c.(358-360)gcC>gcA	p.A120A		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	120					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGTTGTACACGGCCTTCATCT	0.557000													4	75					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94037158	94037158	+	Splice_Site	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:94037158G>A	uc003ung.1	+	13	1066	c.595_splice	c.e13-1	p.G199_splice	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_Splice_Site	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	199					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTCCATGTAGGGTGAACCTG	0.323000										HNSCC(75;0.22)			5	27					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35930983	35930983	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:35930983C>A	uc002hoa.3	-	10	1182	c.1099_splice	c.e10-1	p.R367_splice	SYNRG_uc010wde.2_Splice_Site_p.R289_splice|SYNRG_uc010wdf.2_Splice_Site_p.R289_splice|SYNRG_uc002hoc.3_Splice_Site_p.R288_splice|SYNRG_uc002hoe.3_Splice_Site_p.R289_splice|SYNRG_uc002hod.3_Splice_Site_p.R289_splice|SYNRG_uc010wdg.2_Intron|SYNRG_uc002hob.3_Splice_Site_p.R367_splice|SYNRG_uc002hof.3_Splice_Site_p.R79_splice|SYNRG_uc010cvd.1_Splice_Site_p.R167_splice|SYNRG_uc002hog.1_Splice_Site_p.R501_splice	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	367	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAACGCCCCTCTACAAATG	0.433000													6	162					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950138	7950138	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:7950138C>A	uc010rbh.2	-	0	72	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAGCTGCCCCTGGAGCTCAG	0.433000													5	73					0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74637002	74637002	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:74637002G>T	uc004ecg.3	-	9	1365	c.887C>A	c.(886-888)cCt>cAt	p.P296H	ZDHHC15_uc004ech.3_Missense_Mutation_p.P287H|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	296						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGACCTCATAGGGAAGGAGTG	0.443000													6	95					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184102330	184102330	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:184102330G>T	uc003fov.3	+	12	1692	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	CHRD_uc003fow.3_Silent_p.V112V|CHRD_uc003fox.3_Silent_p.V482V|CHRD_uc003foy.3_Silent_p.V112V|CHRD_uc010hyc.3_Silent_p.V72V|CHRD_uc011brr.2_Silent_p.V112V	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	482	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCAGGCCGTGGGTATCTGCC	0.602000													7	213					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101287114	101287114	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:101287114C>A	uc001vot.3	-	11	1764	c.1451G>T	c.(1450-1452)cGg>cTg	p.R484L	TMTC4_uc001vou.3_Missense_Mutation_p.R465L|TMTC4_uc010tja.2_Missense_Mutation_p.R354L|TMTC4_uc001vov.1_Missense_Mutation_p.R210L|TMTC4_uc001vow.1_Missense_Mutation_p.R248L	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	465						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCCTCACTCCGCCACTCGCC	0.483000													5	141					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96756057	96756057	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:96756057C>A	uc001yfi.3	-	40	6307	c.5942G>T	c.(5941-5943)cGg>cTg	p.R1981L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1981										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTGGGCTAACCGGTGATGAGG	0.502000													5	136					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127225212	127225212	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:127225212C>A	uc003vma.3	-	0	443	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	9						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGCCGCCCCCGAAATTCATC	0.592000											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	100					0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22362923	22362923	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22362923C>A	uc021rpj.1	+	1	225	c.54C>A	c.(52-54)acC>acA	p.T18T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		CAGGAGGAACCAGAGCCCAGT	0.483000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	86					0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67376086	67376086	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:67376086C>A	uc001omj.2	+	2	372	c.219C>A	c.(217-219)ccC>ccA	p.P73P	C11orf72_uc001omi.1_5'Flank|NDUFV1_uc010rpv.1_5'UTR|NDUFV1_uc001omk.4_Silent_p.P64P|NDUFV1_uc001oml.2_Silent_p.P66P|NDUFV1_uc009yrz.1_5'UTR|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	73					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding	p.P73P(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGAAGGGGCCCGACTGGATCC	0.572000													6	134					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151855959	151855959	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:151855959G>T	uc003wla.3	-	43	11878	c.11659C>A	c.(11659-11661)Cac>Aac	p.H3887N	MLL3_uc003wkz.3_Missense_Mutation_p.H2948N|MLL3_uc003wkx.3_5'Flank|MLL3_uc003wky.3_Missense_Mutation_p.H1396N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3887					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGTTTCAAGTGGGTAAACGTG	0.483000			N		medulloblastoma								9	310					0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156437879	156437879	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:156437879C>A	uc001fpc.3	-	10	1850	c.1460G>T	c.(1459-1461)cGg>cTg	p.R487L	MEF2D_uc001fpb.3_Missense_Mutation_p.R480L|MEF2D_uc001fpd.3_Missense_Mutation_p.R480L|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.R487L	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	487					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGTCCCCCCGTCCGTCATC	0.682000													5	72					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6640161	6640161	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:6640161C>A	uc001qoo.2	+	30	4085	c.4039C>A	c.(4039-4041)Cgt>Agt	p.R1347S	NCAPD2_uc010sfd.1_Missense_Mutation_p.R1302S	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	1347					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.R1347S(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCGTACTACCCGTCGGCATCC	0.512000													5	88					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35068275	35068275	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:35068275C>A	uc003zvy.2	-	1	491	c.102G>T	c.(100-102)gaG>gaT	p.E34D	VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_5'UTR	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	34					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CACTGTTGTCCTCATTGATGG	0.443000													9	404					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27682634	27682634	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:27682634C>T	uc002rku.3	-	23	2635	c.2584G>A	c.(2584-2586)Gac>Aac	p.D862N		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	862					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACCAGGTGGTCCCCCCATGCC	0.527000													18	195					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82336242	82336242	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:82336242G>T	uc002bgq.1	-	1	1284	c.969C>A	c.(967-969)ccC>ccA	p.P323P		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	323					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						AGCTCAGGGCGGGGCTAGGGG	0.637000													5	104					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428404	135428404	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:135428404C>A	uc004ezu.1	+	5	2830	c.2539C>A	c.(2539-2541)Cat>Aat	p.H847N	GPR112_uc010nsb.1_Missense_Mutation_p.H642N|GPR112_uc010nsc.1_Missense_Mutation_p.H614N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	847					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCAACTTCCCATTATCTTAT	0.418000													6	119					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779038	156779038	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:156779038G>T	uc009wsh.2	-	6	1129	c.989C>A	c.(988-990)cCt>cAt	p.P330H	SH2D2A_uc001fqc.1_Missense_Mutation_p.P292H|SH2D2A_uc001fqd.2_Missense_Mutation_p.P320H|SH2D2A_uc001fqe.2_Missense_Mutation_p.P302H|SH2D2A_uc010phs.1_Missense_Mutation_p.P320H	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	320	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.P320H(1)|p.P330H(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGTAGGACAGGGTGCCCAAG	0.602000													9	260					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156230309	156230309	+	Missense_Mutation	SNP	G	G	T	rs143050262		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:156230309G>T	uc001foc.4	-	14	2365	c.2216C>A	c.(2215-2217)cCg>cAg	p.P739Q		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	739					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGCTCGGAGCGGGGGCAGGTT	0.547000													6	85					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22423994	22423994	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:22423994C>A	uc003xbv.3	+	12	1427	c.1087C>A	c.(1087-1089)Cga>Aga	p.R363R	SORBS3_uc011kzk.1_Non-coding_Transcript|SORBS3_uc003xbw.4_Silent_p.R21R	NM_005775	NP_005766	O60504	VINEX_HUMAN	Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.	363					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TTCCTCAACCCGAGGTAAGGA	0.612000													5	56					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627429	37627429	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:37627429C>A	uc010cvv.3	+	1	1930	c.1344C>A	c.(1342-1344)ccC>ccA	p.P448P	CDK12_uc010wef.1_Silent_p.P447P|CDK12_uc002hrw.4_Silent_p.P448P	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	448					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAAGTTACCCAGAAGTGTAA	0.388000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			5	95					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57722301	57722301	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:57722301C>A	uc002emh.3	+	11	1681	c.1578C>A	c.(1576-1578)ctC>ctA	p.L526L	GPR97_uc010vhv.2_Silent_p.L406L|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_Silent_p.L134L	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	526					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTTTACCTCCCAAGTCAGA	0.572000													7	179					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217187	51217187	+	Silent	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51217187C>T	uc002psx.1	-	4	679	c.660G>A	c.(658-660)gcG>gcA	p.A220A		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	220					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGTCTGGGCCGCCAGTGTCA	0.617000													9	30					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793017	143793017	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:143793017C>T	uc011kty.2	+	0	817	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGAAGATCCTTTCCCTGTT	0.522000													80	216					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415429	10415429	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:10415429C>A	uc002gmo.3	-	12	1322	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	410	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TACTCATTGCCGACCTTGACC	0.463000													7	282					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118572	118572	+	RNA	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrGL000205.1:118572G>A	uc002kgk.4	+	0		c.1950G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCTTTTTAGCTGATTCCGG	0.398000													6	52					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58000718	58000718	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:58000718C>A	uc001sow.1	+	4	409	c.72C>A	c.(70-72)ccC>ccA	p.P24P	DTX3_uc001sov.1_Silent_p.P17P|DTX3_uc001sox.1_Silent_p.P17P|DTX3_uc001soy.1_Silent_p.P17P	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	24					Notch signaling pathway	cytoplasm	zinc ion binding	p.P24P(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					TGTCCAAGCCCGTGTGGGACT	0.602000													7	222					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459514	122459514	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:122459514G>T	uc003efu.2	-	7	1284	c.1145C>A	c.(1144-1146)cCg>cAg	p.P382Q	HSPBAP1_uc003eft.2_Missense_Mutation_p.P93Q	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	382						cytoplasm		p.P382Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TGCTGCCTCCGGTTTGTCTGT	0.502000													6	262					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70461181	70461181	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:70461181C>A	uc001xlt.2	+	6	930	c.648C>A	c.(646-648)acC>acA	p.T216T	SMOC1_uc001xls.2_Silent_p.T216T	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	216					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TGAACAACACCAACATAAGAA	0.428000													6	180					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47703631	47703631	+	Silent	SNP	C	C	A	rs63750636		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:47703631C>A	uc002rvy.1	+	12	2199	c.2131C>A	c.(2131-2133)Cga>Aga	p.R711R	MSH2_uc010yoh.1_Silent_p.R645R|MSH2_uc002rvz.3_Silent_p.R711R|MSH2_uc010fbg.2_Silent_p.R521R	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	711					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.R711*(4)|p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATCTTAGCCCGAGTAGGGGC	0.478000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	90					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45665409	45665409	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:45665409G>T	uc001wwd.4	+	20	5474	c.5375G>T	c.(5374-5376)gGg>gTg	p.G1792V	FANCM_uc010anf.3_Missense_Mutation_p.G1766V|FANCM_uc001wwe.4_Missense_Mutation_p.G1328V|FANCM_uc010ang.3_Missense_Mutation_p.G1041V	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1792	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGCACTTCAGGGGCATCCTGT	0.433000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	117					0	0	1	0	0
ARF4	378	broad.mit.edu	37	3	57558024	57558024	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:57558024C>A	uc003dix.4	-	6	805	c.457_splice	c.e6-1	p.W153_splice		NM_001660	NP_001651	P18085	ARF4_HUMAN	Homo sapiens ADP-ribosylation factor 4 (ARF4), mRNA.	153					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		TTGAACATACCACTGTAAAGA	0.343000													6	157					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325401	31325401	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:31325401C>A	uc010dmg.1	+	11	5644	c.5589C>A	c.(5587-5589)tcC>tcA	p.S1863S	ASXL3_uc002kxq.2_Silent_p.S1570S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCATCAGTTCCGGCATCAGTC	0.473000													7	287					0	0	1	0	0
AK097701	0	broad.mit.edu	37	4	120299353	120299353	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:120299353C>A	uc003icx.1	+	0		c.67C>A								Homo sapiens cDNA FLJ40382 fis, clone TESTI2035775.																		ATGCATGTACCGACCTTCTGA	0.453000													5	61					0	0	1	0	0
CCDC69	26112	broad.mit.edu	37	5	150565077	150565077	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:150565077C>A	uc003ltq.3	-	6	644	c.521G>T	c.(520-522)tGg>tTg	p.W174L	CCDC69_uc010jhu.3_Missense_Mutation_p.W27L|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	174										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCTGCTCCCAGAACTGGCT	0.532000													6	154					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680257	43680257	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43680257G>T	uc002ovu.3	-	2	605	c.474C>A	c.(472-474)ccC>ccA	p.P158P	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.P158P	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	158	Ig-like C2-type 1.				female pregnancy	extracellular region		p.P158P(2)|p.P158S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TATTCTCCCTGGGTTTTGAGT	0.493000													10	348					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100199275	100199275	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:100199275G>T	uc001voj.1	+	10	1320	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L	TM9SF2_uc010afz.1_Missense_Mutation_p.R231L	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	396					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CCTGCCAACCGAGGAGCGCTG	0.483000													5	79					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49714355	49714355	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:49714355C>A	uc010hkw.1	+	9	1297	c.897C>A	c.(895-897)tcC>tcA	p.S299S	APEH_uc003cxf.3_Silent_p.S299S	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	299					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGGATGACTCCCTGGCTGTCT	0.592000													7	117					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815060	242815060	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:242815060G>T	uc010fzu.1	+	1	1376	c.1353G>T	c.(1351-1353)gcG>gcT	p.A451A		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	451						integral to membrane											TGGTCACCGCGGGTCACGACG	0.592000													4	78					0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	27957465	27957465	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:27957465C>A	uc003xgo.4	+	2	388	c.240C>A	c.(238-240)ccC>ccA	p.P80P	ELP3_uc003xgn.4_Silent_p.P65P|ELP3_uc011las.2_5'UTR|ELP3_uc011lat.2_Intron|ELP3_uc011laq.2_Silent_p.P8P|ELP3_uc011lar.2_Intron	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	80					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGGCGAAACCCATCAGAACTG	0.542000													5	80					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88035909	88035909	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:88035909C>A	uc011ccz.2	+	11	2199	c.1924C>A	c.(1924-1926)Cga>Aga	p.R642R	AFF1_uc003hqj.4_Silent_p.R635R|AFF1_uc003hqk.4_Silent_p.R635R|AFF1_uc011cda.2_Silent_p.R273R	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	635						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTATGGCTCCCGAGACCAGAC	0.612000													6	72					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1462136	1462136	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:1462136C>A	uc002lsr.1	+	13	2021	c.1813C>A	c.(1813-1815)Cgc>Agc	p.R605S	APC2_uc002lss.1_Missense_Mutation_p.R187S|APC2_uc002lst.1_Missense_Mutation_p.R605S|APC2_uc002lsu.1_Missense_Mutation_p.R604S|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	605					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCATCCTCCGCAATGTGTC	0.692000													4	27					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52604308	52604308	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:52604308C>A	uc001vgb.3	+	1	1930	c.1368C>A	c.(1366-1368)tcC>tcA	p.S456S	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Silent_p.S456S	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	456					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		p.S456S(2)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGGTGCTGTCCGAATTGAGGG	0.478000													4	99					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405891	113405891	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:113405891C>A	uc001tug.3	+	13	3103	c.3016C>A	c.(3016-3018)Cgc>Agc	p.R1006S		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	1006	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CACCCAGTACCGCCAGCTCTG	0.567000													5	60					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263555	263555	+	Silent	SNP	C	C	A	rs71369085		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:263555C>A	uc021tna.1	+	1	937	c.921C>A	c.(919-921)ccC>ccA	p.P307P	C17orf97_uc010vpz.1_Non-coding_Transcript	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	337	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GCTTCCACCCCGACCCCAAGG	0.672000													4	62					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296439	145296439	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:145296439C>A	uc021oul.1	+	2	396	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.R121S|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	121								p.R121H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGATGCCTCCCGCTCATTGTA	0.557000													5	205					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97791669	97791669	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:97791669C>A	uc010qop.2	+	11	1342	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Non-coding_Transcript|CC2D2B_uc001kll.3_Silent_p.P291P	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	291										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CTGAATTTCCCCAGACAGAAT	0.393000													6	121					0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6221160	6221160	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:6221160G>T	uc010qzz.2	+	0	707	c.707G>T	c.(706-708)cGg>cTg	p.R236L		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily W, member 1 (OR52W1), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACCTACCCGGGAGGCCCAT	0.517000													6	209					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:152287816C>A	uc001ezu.1	-	1	153	c.117G>T	c.(115-117)aaG>aaT	p.K39N	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	39	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328000									Ichthyosis				7	184					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363700	56363700	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:56363700G>T	uc002qmd.4	+	1	676	c.254G>T	c.(253-255)tGc>tTc	p.C85F		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	85	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGGATCTCTGCATGAAGGTC	0.443000													27	60					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170613387	170613387	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:170613387C>A	uc003ish.3	+	6	1411	c.852C>A	c.(850-852)ccC>ccA	p.P284P	CLCN3_uc003isi.3_Silent_p.P284P|CLCN3_uc011cka.2_Silent_p.P284P|CLCN3_uc011cjz.2_Silent_p.P267P|CLCN3_uc003isj.2_Silent_p.P257P	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	284					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAGAAGGTCCCCTGGTACATG	0.403000													8	215					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829959	72829959	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72829959G>T	uc002fck.3	-	8	7295	c.6622C>A	c.(6622-6624)Cct>Act	p.P2208T	ZFHX3_uc002fcl.3_Missense_Mutation_p.P1294T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2208					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGTTGTAAGGGGAGTCCTTG	0.527000													7	127					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180219194	180219194	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:180219194G>T	uc003mmg.4	-	1	1273	c.778C>A	c.(778-780)Cgc>Agc	p.R260S	MGAT1_uc010jlf.3_Missense_Mutation_p.R260S|MGAT1_uc010jlg.3_Missense_Mutation_p.R260S|MGAT1_uc003mmh.4_Missense_Mutation_p.R260S|MGAT1_uc010jlh.3_Missense_Mutation_p.R260S|MGAT1_uc003mmi.4_Missense_Mutation_p.R260S|MGAT1_uc021yjn.1_Missense_Mutation_p.R260S	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT1), transcript variant 2, mRNA.	260					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGTCGGTGCGGTAGAGCAGC	0.652000													5	101					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7240646	7240646	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:7240646G>T	uc002ggd.2	+	1	275	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	23	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTATTGAGCTGGTGGAAGCCG	0.582000													6	130					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223160320	223160320	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:223160320C>A	uc010fwo.3	-	2	759	c.378G>T	c.(376-378)ccG>ccT	p.P126P	PAX3_uc002vmt.2_Silent_p.P126P|PAX3_uc002vmy.2_Silent_p.P125P|PAX3_uc002vmv.2_Silent_p.P126P|PAX3_uc002vmw.2_Silent_p.P126P|PAX3_uc002vmx.2_Silent_p.P126P|PAX3_uc002vmz.2_Silent_p.P126P|PAX3_uc002vna.2_Silent_p.P126P|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	126	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N125K(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAACATGCCCGGGTTCTCTC	0.537000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						6	99					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21889689	21889689	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:21889689G>T	uc001bet.3	+	4	641	c.384G>T	c.(382-384)gtG>gtT	p.V128V	ALPL_uc010odo.2_Silent_p.V73V|ALPL_uc010odp.2_Silent_p.V51V|ALPL_uc010odn.2_Silent_p.V76V|ALPL_uc001beu.4_Silent_p.V128V	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	128			V -> M (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AGGGCACCGTGGGGGTAAGCG	0.662000													5	85					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164790850	164790850	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:164790850C>A	uc001gct.3	+	7	1650	c.1187C>A	c.(1186-1188)cCg>cAg	p.P396Q	PBX1_uc010pku.2_Missense_Mutation_p.P396Q|PBX1_uc001gcs.3_3'UTR|PBX1_uc010pkv.2_Missense_Mutation_p.P313Q|PBX1_uc010pkw.1_Missense_Mutation_p.P286Q	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	396					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATGTACAGTCCGCAGGGCATC	0.478000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								4	76					0	0	1	0	0
SNUPN	10073	broad.mit.edu	37	15	75899625	75899625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:75899625C>A	uc002ban.3	-	5	622	c.532G>T	c.(532-534)Gag>Tag	p.E178*	SNUPN_uc002bap.3_Nonsense_Mutation_p.E220*|SNUPN_uc002baq.3_Nonsense_Mutation_p.E178*|SNUPN_uc002bar.3_Nonsense_Mutation_p.E178*|SNUPN_uc002bas.3_Nonsense_Mutation_p.E178*	NM_005701	NP_005692	O95149	SPN1_HUMAN	Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA.	178					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	RNA cap binding|protein transporter activity			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TGGTTTACCTCATTGTAAATG	0.498000													6	91					0	0	1	0	0
TPPP3	51673	broad.mit.edu	37	16	67424535	67424535	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:67424535C>A	uc002etb.3	-	3	334	c.189_splice	c.e3-1	p.K63_splice	TPPP3_uc002esz.3_Splice_Site_p.K63_splice|TPPP3_uc002eta.3_Splice_Site_p.K63_splice	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	63					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CAGACTTCCCCCTGACAGGCA	0.532000													7	167					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300629	103300629	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:103300629G>T	uc002tca.3	+	4	1401	c.1259G>T	c.(1258-1260)cGg>cTg	p.R420L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	420						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R420R(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AATAGGTTCCGGACCATTCCC	0.453000													4	86					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880587	24880587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24880587C>A	uc001wpf.4	+	5	2891	c.2573C>A	c.(2572-2574)tCg>tAg	p.S858*		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	858					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCTACACTCGCTCAAGATG	0.552000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	198					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138683669	138683669	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:138683669C>A	uc011mdq.2	+	29	3603	c.3529C>A	c.(3529-3531)Ctc>Atc	p.L1177I	KCNT1_uc011mdr.2_Missense_Mutation_p.L1025I|KCNT1_uc010nbf.3_Missense_Mutation_p.L1153I	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1177						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAGAACACCCTCTCCTACGT	0.647000													6	103					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4854831	4854831	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:4854831G>T	uc003bqc.3	+	55	7779	c.7429G>T	c.(7429-7431)Ggc>Tgc	p.G2477C	ITPR1_uc021wsi.1_Missense_Mutation_p.G2444C|ITPR1_uc021wsj.1_Missense_Mutation_p.G2429C|ITPR1_uc011asu.2_Missense_Mutation_p.G455C|ITPR1_uc010hcc.2_Missense_Mutation_p.G212C|ITPR1_uc011asv.2_Missense_Mutation_p.G168C	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2492	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCCAGAAACCGGCGAGAGTTT	0.473000													4	105					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49255147	49255147	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:49255147G>T	uc001zxb.1	-	0	495	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	22	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCAGCATCCCGGGGTGCCCGA	0.607000													6	152					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137657580	137657580	+	Splice_Site	SNP	C	C	A	rs146757272		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:137657580C>A	uc004cfe.3	+	21	2470	c.2088_splice	c.e21+1	p.P696_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	696	Triple-helical region.			PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGACCTCCCGTAAGTCCCA	0.632000													4	89					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576898	7576898	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:7576898G>T	uc002gim.2	-	8	1142	c.948C>A	c.(946-948)ccC>ccA	p.P316P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Silent_p.P316P|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Silent_p.P184P|TP53_uc010cnf.1_Silent_p.P184P|TP53_uc002gii.1_Silent_p.P184P|TP53_uc010cni.1_Silent_p.P316P|TP53_uc010cnh.1_Silent_p.P316P|TP53_uc002gij.2_Silent_p.P316P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	316	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		P -> L (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P316P(4)|p.S315fs*22(4)|p.Q317*(2)|p.S315fs*30(1)|p.?(1)|p.S314fs*25(1)|p.S315C(1)|p.L308fs*15(1)|p.P316fs*21(1)|p.P316L(1)|p.Q317fs*45(1)|p.S315P(1)|p.S315S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTTTGGCTGGGGAGAGGAGC	0.478000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	74					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638074	149638074	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:149638074G>T	uc011mxu.2	+	2	464	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W	MAMLD1_uc011mxt.1_Missense_Mutation_p.G39W|MAMLD1_uc004fee.2_Missense_Mutation_p.G77W|MAMLD1_uc011mxv.2_Missense_Mutation_p.G52W|MAMLD1_uc011mxw.2_Missense_Mutation_p.G4W	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	77					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.G5fs*36(1)|p.G78fs*36(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCTGATGGGGGCTACCC	0.493000													5	77					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77254141	77254141	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:77254141C>A	uc004ecx.4	+	4	1663	c.1503C>A	c.(1501-1503)tcC>tcA	p.S501S	ATP7A_uc004ecw.2_Silent_p.S501S	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	501	HMA 5.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTTGCGCTTCCTGTGTAGCAA	0.403000													6	134					0	0	1	0	0
STRBP	55342	broad.mit.edu	37	9	125895198	125895198	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:125895198C>A	uc004bns.3	-	16	2265	c.1823G>T	c.(1822-1824)cGg>cTg	p.R608L	STRBP_uc004bnt.3_Missense_Mutation_p.R426L|STRBP_uc004bnu.3_Missense_Mutation_p.R594L|STRBP_uc004bnv.3_Missense_Mutation_p.R608L	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	608					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TCCTCTGCCCCGAACAGCTTG	0.448000													5	65					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17586228	17586228	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:17586228C>A	uc001bai.3	+	1	288	c.248C>A	c.(247-249)cCc>cAc	p.P83H		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	83					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGAACTCCCCCAGCAATGAC	0.597000													5	54					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209862	65209862	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:65209862C>A	uc001xhp.2	+	16	3503	c.3464C>A	c.(3463-3465)tCc>tAc	p.S1155Y	PLEKHG3_uc001xhn.1_Missense_Mutation_p.S978Y|PLEKHG3_uc001xho.1_Missense_Mutation_p.S1034Y|PLEKHG3_uc010aqh.1_Missense_Mutation_p.S576Y|PLEKHG3_uc001xhq.1_Missense_Mutation_p.S539Y	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1034					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCCGGCCCTCCGCCCGGAGC	0.682000													7	154					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640724	36640724	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:36640724C>A	uc002xhl.3	-	2	1704	c.1495G>T	c.(1495-1497)Ggg>Tgg	p.G499W	TTI1_uc002xhm.3_Missense_Mutation_p.G499W	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	499							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TAAAGATTCCCATAATAACCA	0.433000													5	78					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047618	46047618	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:46047618C>A	uc002zfp.4	+	0	579	c.530C>A	c.(529-531)cCc>cAc	p.P177H	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	177	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						ACTTCCTCCCCCTGCCAGCAG	0.582000													11	390					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4542227	4542227	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:4542227C>A	uc002fyh.3	-	3	485	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	ALOX15_uc010vsd.2_Missense_Mutation_p.G115W|ALOX15_uc010vse.2_Missense_Mutation_p.G176W	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	154	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGTTTGGCCCCAGCCATATTC	0.537000													6	135					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105815721	105815721	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:105815721C>A	uc001kxr.3	-	17	1675	c.1506G>T	c.(1504-1506)ctG>ctT	p.L502L	COL17A1_uc010qqv.1_Silent_p.L486L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	502	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATCCTCTCCAGCTCATCCA	0.602000													6	159					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75737527	75737527	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:75737527C>A	uc003yal.3	+	1	222	c.43C>A	c.(43-45)Ctt>Att	p.L15I	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.L15I	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	15						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CCTGTTCTCCCTTCTCTGTGA	0.463000													8	319					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455747	37455747	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:37455747G>T	uc002rpz.3	-	1	619	c.589C>A	c.(589-591)Cag>Aag	p.Q197K		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	197					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCCTGAGGCTGGGGTTTCAAA	0.388000													5	104					0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105354172	105354172	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:105354172G>A	uc001yps.3	+	10	3692	c.3386G>A	c.(3385-3387)aGt>aAt	p.S1129N	KIAA0284_uc010axb.3_Missense_Mutation_p.S1129N|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1199						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		TCTGGCCGCAGTGTGGAGTTG	0.692000													8	4					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40647096	40647096	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40647096G>T	uc002hzs.3	+	12	1547	c.1380G>T	c.(1378-1380)atG>atT	p.M460I	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.M453I|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.M453I|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.M410I|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.M410I|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.M99I|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.M312I	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	453					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTTTATTGATGGGTGTGTTCT	0.413000													9	214					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8402679	8402679	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:8402679C>A	uc010dwa.3	-	2	100	c.34_splice	c.e2+1	p.D12_splice		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	12										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCACACTCACCGGGCAGGTTC	0.572000													4	82					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197878372	197878372	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:197878372C>A	uc021vuj.1	-	17	1980	c.1787G>T	c.(1786-1788)aGg>aTg	p.R596M	ANKRD44_uc002utz.4_Missense_Mutation_p.R303M|ANKRD44_uc021vuk.1_Missense_Mutation_p.R571M	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	596							protein binding	p.R411M(1)|p.R571M(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTCTCATCCCTGATGTCCAG	0.517000													8	230					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952112	85952112	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:85952112C>A	uc002fjh.3	+	6	748	c.691C>A	c.(691-693)Ctg>Atg	p.L231M		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	231					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGCCTGTCCCTGAGCCAGCC	0.687000													5	88					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27446507	27446507	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:27446507G>T	uc002rji.3	+	6	1048	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	CAD_uc010eyw.3_Missense_Mutation_p.G296W	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	296	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGAACCATGGGTTTGCTGT	0.557000													7	254					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38968409	38968409	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:38968409C>A	uc021wvy.1	-	3	701	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	168					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T167I(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATATAAATCCCAGTGAAGACA	0.363000													6	101					0	0	1	0	0
PATE1	160065	broad.mit.edu	37	11	125617637	125617637	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:125617637C>A	uc001qct.3	+	3	179	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	PATE1_uc009zbr.3_Missense_Mutation_p.P44Q	NM_138294	NP_612151	Q8WXA2	PATE1_HUMAN	Homo sapiens prostate and testis expressed 1 (PATE1), mRNA.	56						extracellular region				large_intestine(1)|lung(5)	6						CTCCAGTTCCCAGGAGAAAAG	0.478000													6	86					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317148	154317148	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:154317148C>A	uc001fex.3	+	20	2272	c.2272C>A	c.(2272-2274)Cgc>Agc	p.R758S		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	744					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGACTCATCCCGCTCCGTAGG	0.537000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	118					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71455412	71455412	+	Missense_Mutation	SNP	C	C	A	rs11625690		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:71455412C>A	uc001xmo.2	+	6	2886	c.2440C>A	c.(2440-2442)Cta>Ata	p.L814I	PCNX_uc001xmn.4_Missense_Mutation_p.L814I|PCNX_uc010are.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	814			L -> I (in dbSNP:rs11625690).			integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGGATCACCCCTAAGGTATGG	0.493000													7	259					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246158	33246158	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:33246158G>T	uc003odr.3	+	0	1242	c.962G>T	c.(961-963)cGg>cTg	p.R321L		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	321					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CCGCTAGACCGGTGCTGCTAT	0.607000													5	114					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40161771	40161771	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:40161771G>T	uc002xka.1	-	2	650	c.472C>A	c.(472-474)Cgg>Agg	p.R158R	CHD6_uc002xkd.2_Silent_p.R136R|CHD6_uc002xkc.3_Silent_p.R193R	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	158	Lys-rich.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.P157P(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGGCCTCCCGGGGCTTCCGT	0.587000													7	260					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163256866	163256866	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:163256866C>A	uc002uch.2	-	9	2469	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	747					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACTTGCCCCCCGAAAGGCTTT	0.478000													6	111					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37690631	37690631	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:37690631C>A	uc003xkj.3	+	8	1587	c.1201C>A	c.(1201-1203)Cgc>Agc	p.R401S	GPR124_uc010lvy.3_Missense_Mutation_p.R401S	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	401					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCGAGCCTCCCGCCGGTGTGA	0.672000													5	69					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	825296	825296	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:825296C>A	uc011cma.1	-	7	1390	c.1006G>T	c.(1006-1008)Ggg>Tgg	p.G336W	ZDHHC11_uc010itc.3_5'Flank|ZDHHC11_uc010itd.1_Non-coding_Transcript	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	336						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GTCGAATCCCCATCCTGGTTT	0.547000													7	135					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103897727	103897727	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:103897727G>T	uc001kum.3	+	1	313	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	PPRC1_uc001kun.3_Missense_Mutation_p.W5C|PPRC1_uc010qqj.2_Missense_Mutation_p.G92W|PPRC1_uc009xxa.3_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACACTGCTGGGGACCATGCA	0.547000													5	60					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171276	7171276	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:7171276G>T	uc004cry.4	+	1	296	c.51G>T	c.(49-51)tgG>tgT	p.W17C	STS_uc004crw.2_Non-coding_Transcript|STS_uc011mhp.1_Non-coding_Transcript|STS_uc004crx.1_Non-coding_Transcript	NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	17					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCTTTCTGTGGGAAGCCGAGA	0.493000									Ichthyosis				4	29					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9845526	9845526	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:9845526G>T	uc021wsu.1	+	5	393	c.388_splice	c.e5-1	p.G130_splice	TTLL3_uc003btb.2_Splice_Site_p.G21_splice|TTLL3_uc003bta.2_Splice_Site_p.G21_splice|TTLL3_uc003bsz.2_Splice_Site_p.G111_splice|TTLL3_uc003btd.4_Intron|TTLL3_uc003btc.2_Intron	NM_001198780	NP_001185709	Q9Y4R7	TTLL3_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 4, 20kDa (ARPC4), transcript variant 4, mRNA.	0					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TTCTTCCCTAGGGGTATGATA	0.483000													7	205					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016162	38016162	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:38016162G>T	uc003gtb.3	+	2	808	c.450G>T	c.(448-450)gcG>gcT	p.A150A	TBC1D1_uc011byd.2_Silent_p.A150A|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Silent_p.A21A	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	150						nucleus	Rab GTPase activator activity	p.A150A(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCGTCAGGCGGGGAAGATCG	0.597000													5	148					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39995921	39995921	+	Missense_Mutation	SNP	G	G	A	rs141671275	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39995921G>A	uc002olx.2	+	5	981	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	DLL3_uc010egq.3_Missense_Mutation_p.R308Q|DLL3_uc002olw.2_Missense_Mutation_p.R308Q	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	308	EGF-like 2.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TACGGGCTGCGGTGTGAGGTG	0.592000													28	86					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61901187	61901187	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:61901187C>A	uc002jbz.3	-	11	1358	c.1280G>T	c.(1279-1281)cGg>cTg	p.R427L	FTSJ3_uc002jca.3_Missense_Mutation_p.R427L	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	427					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CTGGTGACCCCGGATGGTGCT	0.562000													6	159					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751333	162751333	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:162751333C>A	uc002ubx.4	+	10	1523	c.1339C>A	c.(1339-1341)Cag>Aag	p.Q447K	SLC4A10_uc010fpa.1_Missense_Mutation_p.Q459K|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.Q428K|SLC4A10_uc002uby.4_Missense_Mutation_p.Q417K	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	447					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.L446L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGTTCCTTCCCAGGTATGTAT	0.303000													5	114					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61562656	61562656	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:61562656C>A	uc002jau.2	+	12	2015	c.1981C>A	c.(1981-1983)Cag>Aag	p.Q661K	ACE_uc010ddu.2_Missense_Mutation_p.Q478K|ACE_uc010wpj.2_Missense_Mutation_p.Q87K|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.Q87K|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	661	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCGGACATCCCAGGTGGTGTG	0.567000													5	54					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179437608	179437608	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:179437608G>A	uc001gmo.3	+	16	2216	c.1829G>A	c.(1828-1830)aGt>aAt	p.S610N	AXDND1_uc001gmn.2_3'UTR|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.S568N	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	610										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGTTTGATTAGTTCTCTTGAC	0.294000													4	50					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53930449	53930449	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:53930449C>A	uc001cvq.1	+	2	945	c.890C>A	c.(889-891)cCg>cAg	p.P297Q		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	297	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						TTCCTCCCCCCGCCACCGCCA	0.647000													6	84					0	0	1	0	0
MAPK12	6300	broad.mit.edu	37	22	50694551	50694551	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:50694551G>T	uc003bkm.1	-	6	733	c.582C>A	c.(580-582)ccC>ccA	p.P194P	MAPK12_uc003bko.2_Silent_p.P104P|MAPK12_uc003bkl.1_Silent_p.P184P|MAPK12_uc003bkq.2_Silent_p.P13P	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	194	Protein kinase.				DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGATGACCTCGGGAGCCCGGT	0.597000													4	70					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918865	11918865	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11918865C>A	uc001atj.3	-	0	128	c.26G>T	c.(25-27)cGg>cTg	p.R9L		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	9					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CAGGAGCGCCCGGGAAGGTGC	0.652000													4	99					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39390613	39390613	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:39390613C>A	uc003jlx.3	-	4	926	c.395G>T	c.(394-396)cGg>cTg	p.R132L	DAB2_uc003jlw.3_Missense_Mutation_p.R132L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	132	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.R132Q(2)|p.N131N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ACCAAATGCCCGGTTGTCTGT	0.408000													6	101					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5126757	5126757	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:5126757G>T	uc010mhm.3	+	23	3478	c.3365G>T	c.(3364-3366)cGa>cTa	p.R1122L	JAK2_uc003ziw.3_Missense_Mutation_p.R1122L	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	1122	Protein kinase 2.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	p.R1122P(4)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CTAGCTCTTCGAGTGGATCAA	0.353000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				4	70					0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474190	145474190	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:145474190C>A	uc021ouy.1	+	0	862	c.862C>A	c.(862-864)Cga>Aga	p.R288R	LIX1L_uc001enr.3_5'Flank|ANKRD34A_uc001enq.1_Silent_p.R288R	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	288	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCGTCTTTCCCGACGTCACAG	0.637000													5	62					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369135	86369135	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:86369135C>A	uc001vll.1	-	1	1968	c.1509G>T	c.(1507-1509)ttG>ttT	p.L503F	SLITRK6_uc021rla.1_Missense_Mutation_p.L503F	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	503						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CAAGATCATCCAAAATATTAC	0.408000													5	90					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89520414	89520414	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:89520414C>A	uc001dmx.2	-	9	1836	c.1616G>T	c.(1615-1617)aGg>aTg	p.R539M		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	539					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CAACTGGACCCTGTCGTTCTC	0.428000													10	401					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48049696	48049696	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:48049696G>T	uc004diz.1	-	6	515	c.462C>A	c.(460-462)ccC>ccA	p.P154P	SSX5_uc004dja.1_Silent_p.P113P	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGGCTTCTCGGGCGTGATCT	0.433000													5	168					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79916824	79916824	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:79916824G>T	uc001vkz.2	-	16	2422	c.2408C>A	c.(2407-2409)cCa>cAa	p.P803Q	RBM26_uc001vky.2_Missense_Mutation_p.P774Q|RBM26_uc001vla.2_Missense_Mutation_p.P777Q|RBM26_uc001vkx.2_Missense_Mutation_p.P513Q|RBM26_uc010tia.2_Missense_Mutation_p.P158Q	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	801					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TATACTTTTTGGAAGACAGCG	0.299000													7	227					0	0	1	0	0
TRAM2	9697	broad.mit.edu	37	6	52380835	52380835	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:52380835G>T	uc003paq.3	-	3	529	c.380C>A	c.(379-381)tCg>tAg	p.S127*	EFHC1_uc011dwv.1_Intron	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA.	127	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					CCAAATCACCGAGGTGAAATG	0.478000													6	194					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637434	6637434	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:6637434G>T	uc001qoo.2	+	24	3285	c.3239G>T	c.(3238-3240)gGg>gTg	p.G1080V	NCAPD2_uc009zen.1_Missense_Mutation_p.G952V|NCAPD2_uc010sfd.1_Missense_Mutation_p.G1035V	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	1080					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GTTGCCACTGGGGATCTGGCC	0.557000													7	199					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67012772	67012772	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:67012772C>A	uc001ojw.3	+	13	2540	c.1676C>A	c.(1675-1677)cCg>cAg	p.P559Q	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.P253Q|KDM2A_uc010rpn.2_Missense_Mutation_p.P120Q|KDM2A_uc001ojz.1_Missense_Mutation_p.P17Q	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GCTGCCTCCCCGATTGTGTCA	0.552000													5	114					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296096	29296096	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:29296096G>T	uc002rmt.2	-	0	1032	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	344					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CAGAGCATAAGGGGAGACCCT	0.602000													7	92					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116353655	116353655	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:116353655C>A	uc004bhq.3	+	21	3267	c.3058C>A	c.(3058-3060)Cgg>Agg	p.R1020R	RGS3_uc004bhs.3_Silent_p.R910R|RGS3_uc004bht.3_Silent_p.R739R|RGS3_uc010muy.3_Silent_p.R413R|RGS3_uc004bhv.3_Silent_p.R341R|RGS3_uc010muz.1_Silent_p.R359R|RGS3_uc004bhw.3_Intron|RGS3_uc011lxh.2_Silent_p.R341R|RGS3_uc004bhx.3_Silent_p.R341R|RGS3_uc004bhy.1_Silent_p.R330R|RGS3_uc004bhz.3_Silent_p.R362R|RGS3_uc004bia.3_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	1020					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CGAAGCCTCCCGGAAGAGAAA	0.582000													4	87					0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18278049	18278049	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:18278049G>T	uc002nia.1	+	12	2181	c.1669G>T	c.(1669-1671)Gac>Tac	p.D557Y	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	557					T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CAGAGAGATCGACAAGCGCAT	0.622000													12	88					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50848421	50848421	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:50848421G>T	uc002lfe.2	+	13	2674	c.2058G>T	c.(2056-2058)ctG>ctT	p.L686L	DCC_uc010xdr.1_Silent_p.L534L|DCC_uc010dpf.2_Silent_p.L341L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	686	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCATAGGACTGGAGAAAGGAA	0.438000													5	99					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131356647	131356647	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:131356647C>A	uc004bvl.4	+	23	3551	c.3409C>A	c.(3409-3411)Cag>Aag	p.Q1137K	SPTAN1_uc011mbg.2_Missense_Mutation_p.Q1117K|SPTAN1_uc011mbh.2_Missense_Mutation_p.Q1149K|SPTAN1_uc004bvm.4_Missense_Mutation_p.Q1137K|SPTAN1_uc004bvn.4_Missense_Mutation_p.Q1117K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1137					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGATGACTTCCAGAAGGTATG	0.418000													4	51					0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91029480	91029480	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:91029480G>T	uc003yek.1	+	1	339	c.198G>T	c.(196-198)ggG>ggT	p.G66G	DECR1_uc011lgc.1_Silent_p.G57G|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	66					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCATTACTGGGGGAGGTACTG	0.443000													6	135					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764231	82764231	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:82764231G>T	uc003uhx.2	-	2	2924	c.2635C>A	c.(2635-2637)Cct>Act	p.P879T	PCLO_uc003uhv.2_Missense_Mutation_p.P879T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	825	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGTGGGCCAGGGGGTGTTGGT	0.522000													9	371					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511776	4511776	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:4511776G>T	uc002mar.1	-	2	2154	c.2154C>A	c.(2152-2154)acC>acA	p.T718T	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	718	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CACTGCAGACGGTGTCCTTGG	0.577000													7	334					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106691827	106691827	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:106691827C>A	uc021ser.1	-	1156		c.25166G>T								Parts of antibodies, mostly variable regions.																		GGATGAGACCCACTCCAGCCC	0.532000													7	247					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065113	63065113	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:63065113G>T	uc009yor.3	+	3	952	c.744G>T	c.(742-744)ctG>ctT	p.L248L	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	248						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGATAATCCTGGGAGGCTTGG	0.458000													6	108					0	0	1	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635818	233635818	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:233635818C>A	uc002vto.3	-	0	298	c.255G>T	c.(253-255)ctG>ctT	p.L85L	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_Intron|KCNJ13_uc002vtp.3_Silent_p.L85L|KCNJ13_uc021vyk.1_Silent_p.L5L	NM_001172417	NP_001165888	O60928	IRK13_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.	85						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GATCTAGTTCCAGATCACCAT	0.468000													5	125					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512026	15512026	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:15512026C>A	uc002naw.1	-	4	850	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Missense_Mutation_p.G190W|AKAP8L_uc002nay.1_Missense_Mutation_p.G251W|AKAP8L_uc002naz.3_Missense_Mutation_p.G99W	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	251						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTGCCAAACCCGAAACCAAAG	0.627000													8	298					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5080328	5080328	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:5080328G>T	uc010mhm.3	+	15	2344	c.2231G>T	c.(2230-2232)tGg>tTg	p.W744L	JAK2_uc003ziw.3_Missense_Mutation_p.W744L	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	744	Protein kinase 1.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACCACTTTGTGGGAAATCTGC	0.368000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				9	345					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70641864	70641864	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:70641864C>A	uc001jos.2	+	1	548	c.461C>A	c.(460-462)cCa>cAa	p.P154Q	STOX1_uc001joq.3_Missense_Mutation_p.P44Q|STOX1_uc001jor.3_Missense_Mutation_p.P154Q|STOX1_uc009xpy.3_Missense_Mutation_p.P154Q|STOX1_uc021prw.1_Missense_Mutation_p.P44Q	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	154						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AAACATTACCCAGGTAGAGTA	0.343000													5	89					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163128	72163128	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72163128C>A	uc002fcc.4	-	12	1974	c.1802G>T	c.(1801-1803)aGg>aTg	p.R601M	PMFBP1_uc002fcd.3_Missense_Mutation_p.R596M|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.R451M|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	601								p.R596M(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCCTTGCTCCCTGTGCTGAAA	0.433000													10	324					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17396637	17396637	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:17396637G>T	uc001baf.3	-	14	1792	c.1710C>A	c.(1708-1710)ccC>ccA	p.P570P	PADI2_uc010ocm.2_Silent_p.P454P	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	570					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TGAACAGAGCGGGCAGGTCAA	0.597000													4	91					0	0	1	0	0
LOC392232	392232	broad.mit.edu	37	8	73163812	73163812	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:73163812C>A	uc022avu.1	-	0		c.58G>T								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		GACCCCACCCCGGACGCCATC	0.687000													4	48					0	0	1	0	0
GPR84	53831	broad.mit.edu	37	12	54756831	54756831	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:54756831C>A	uc021qyp.1	-	0	805	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	GPR84_uc001sfu.3_Missense_Mutation_p.G269W	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	269						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAGTCCCCTTCCAGGGTC	0.547000													7	225					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658781	73658781	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:73658781C>A	uc010dgl.3	-	3	758	c.549G>T	c.(547-549)ctG>ctT	p.L183L	RECQL5_uc010dgk.3_Silent_p.L156L|RECQL5_uc002joz.4_Silent_p.L183L|RECQL5_uc002jpa.4_Silent_p.L183L|RECQL5_uc002jpb.2_Silent_p.L183L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	183	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGCATGTCCCAGGCGGGAGC	0.577000								Other identified genes with known or suspected DNA repair function					8	244					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236180449	236180449	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:236180449C>A	uc001hxo.3	-	10	2356	c.2254_splice	c.e10+1	p.A752_splice	NID1_uc009xgd.3_Intron	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	752					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGAACTTACCCACACACGTTC	0.478000													7	179					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900020	130900020	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:130900020C>A	uc010yzw.1	-	1	1280	c.536G>T	c.(535-537)cGg>cTg	p.R179L	CCDC74B_uc002tqm.1_Intron|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	161										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GGCCTCTTCCCGTGTCCTGTC	0.627000													4	57					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160994629	160994629	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:160994629C>A	uc002ubh.2	-	8	1204	c.1189G>T	c.(1189-1191)Ggt>Tgt	p.G397C	ITGB6_uc010fou.2_Missense_Mutation_p.G397C|ITGB6_uc010zcq.1_Missense_Mutation_p.G355C|ITGB6_uc010fov.1_Missense_Mutation_p.G397C	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	397					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AAGAGGGTACCGTTGTTACAG	0.438000													6	140					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7106318	7106318	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:7106318C>A	uc010vtn.2	-	6	771	c.511G>T	c.(511-513)Gcc>Tcc	p.A171S	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.A228S|DLG4_uc002get.4_Missense_Mutation_p.A274S|DLG4_uc010vto.2_Missense_Mutation_p.A271S|DLG4_uc002geu.3_Missense_Mutation_p.A228S	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	231	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TTCTTCAGGGCTGCCACAGCA	0.522000													5	72					0	0	1	0	0
NR1D1	9572	broad.mit.edu	37	17	38251248	38251248	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:38251248C>A	uc002htz.2	-	5	2000	c.1374G>T	c.(1372-1374)ccG>ccT	p.P458P	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_Silent_p.P72P	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	458					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CACGGAAGCCCGGGATGTGTT	0.532000													4	47					0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22180919	22180919	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22180919C>A	uc021roz.1	+	1	199	c.191C>A	c.(190-192)cCg>cAg	p.P64Q						Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280.																		CTTCACTTCCCGGGATGTGCA	0.493000													7	315					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110421192	110421192	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:110421192G>T	uc001tps.2	-	5	774	c.609C>A	c.(607-609)ccC>ccA	p.P203P	GIT2_uc001tpq.2_Silent_p.P203P|GIT2_uc001tpv.2_Silent_p.P203P|GIT2_uc001tpu.2_Silent_p.P203P|GIT2_uc001tpt.2_Silent_p.P203P|GIT2_uc010sxu.1_Silent_p.P141P|GIT2_uc001tpw.3_Silent_p.P203P|GIT2_uc010sxv.1_Silent_p.P203P	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	203					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	p.P203P(6)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CATAATCAACGGGAGTTTTCC	0.438000													4	93					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42251446	42251446	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:42251446C>A	uc003cky.3	+	13	2148	c.1932C>A	c.(1930-1932)acC>acA	p.T644T	TRAK1_uc011azh.2_Silent_p.T644T|TRAK1_uc011azi.2_Intron|TRAK1_uc011azj.2_Silent_p.T570T|TRAK1_uc003cla.3_Silent_p.T586T	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	644					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCCTAGCTACCTCCACTCCAG	0.567000													5	70					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64537847	64537847	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:64537847C>A	uc001obb.2	-	3	722	c.270G>T	c.(268-270)gaG>gaT	p.E90D	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Missense_Mutation_p.E64D|SF1_uc001oaz.2_Missense_Mutation_p.E215D|SF1_uc001oba.2_Missense_Mutation_p.E90D|SF1_uc001obd.2_Missense_Mutation_p.E90D|SF1_uc001obc.2_Missense_Mutation_p.E90D|SF1_uc001obe.2_5'UTR|SF1_uc010rno.2_5'UTR	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	90					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCCGCTTCCCCTCGCTATTGT	0.532000													6	108					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126133022	126133022	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:126133022C>A	uc010hsg.1	+	3	284	c.225_splice	c.e3+1	p.S75_splice	CCDC37_uc003eiu.1_Splice_Site_p.S75_splice	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	75										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGGCTCTCTCCGTGAGTATCC	0.552000													8	196					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503800	140503800	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:140503800C>A	uc003lip.1	+	0	2220	c.2220C>A	c.(2218-2220)ggC>ggA	p.G740G		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	740					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTAAGCGGCACCGGGACCC	0.622000													54	121					0	0	1	0	0
GPR56	9289	broad.mit.edu	37	16	57691386	57691386	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:57691386C>A	uc002emb.2	+	10	1561	c.1269C>A	c.(1267-1269)gcC>gcA	p.A423A	GPR56_uc002elz.1_Silent_p.A253A|GPR56_uc002ema.1_Silent_p.A248A|GPR56_uc002emc.2_Silent_p.A423A|GPR56_uc002emf.2_Silent_p.A423A|GPR56_uc010vhs.1_Silent_p.A423A|GPR56_uc002emd.2_Silent_p.A423A|GPR56_uc002eme.2_Silent_p.A423A|GPR56_uc010vht.1_Silent_p.A428A|GPR56_uc002emg.3_Silent_p.A423A|GPR56_uc010vhu.1_Silent_p.A248A	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	423					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCACCATTGCCGCCTACCTCT	0.647000													5	222					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33706825	33706825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:33706825G>T	uc002num.2	-	1	353	c.206C>A	c.(205-207)tCa>tAa	p.S69*	SLC7A10_uc010xrq.2_Intron	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	69					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACGGAGCCTGAGTGCTCCAG	0.667000													4	30					0	0	1	0	0
RPL12	6136	broad.mit.edu	37	9	130211949	130211949	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:130211949C>A	uc004bqy.2	-	2	265	c.150G>T	c.(148-150)acG>acT	p.T50T	RPL12_uc004bqz.2_Intron|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.2_5'Flank|LRSAM1_uc010mxk.2_5'Flank|LRSAM1_uc004brc.2_5'Flank|LRSAM1_uc004brd.2_5'Flank	NM_000976	NP_000967	P30050	RL12_HUMAN	Homo sapiens ribosomal protein L12 (RPL12), mRNA.	50					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCCAGTCACCCGTTGCCTTGG	0.498000													4	58					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245442	233245442	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:233245442C>A	uc002vsq.3	+	7	1140	c.975C>A	c.(973-975)ccC>ccA	p.P325P		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	325						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCAGGAACCCCCGCGGCTTCT	0.647000													5	58					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25436385	25436385	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:25436385C>A	uc002wux.1	-	22	3955	c.3881G>T	c.(3880-3882)cGg>cTg	p.R1294L	NINL_uc010gdn.1_Missense_Mutation_p.R945L|NINL_uc002wuw.1_Missense_Mutation_p.R85L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1294					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.R1294L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTCTTCCACCCGCTCTTCTGT	0.517000													9	457					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767495	31767495	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:31767495C>A	uc002nsy.4	-	1	3269	c.3204G>T	c.(3202-3204)ccG>ccT	p.P1068P		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	1068					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGGTCTTCCGGAGATTTCC	0.468000													4	105					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242149906	242149906	+	Silent	SNP	G	G	T	rs138190598	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:242149906G>T	uc002wax.2	+	14	1747	c.1644G>T	c.(1642-1644)acG>acT	p.T548T		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	548						cell junction|chloride channel complex|cytosol	chloride channel activity	p.T548T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCAGCCTCACGGGGTCTGTAG	0.652000													5	87					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18975506	18975506	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:18975506G>T	uc003sui.3	+	21	2919	c.2878G>T	c.(2878-2880)Gat>Tat	p.D960Y	HDAC9_uc003sue.3_Missense_Mutation_p.D957Y|HDAC9_uc003suh.3_Missense_Mutation_p.D957Y|HDAC9_uc003suj.3_Missense_Mutation_p.D916Y|HDAC9_uc003suk.3_Missense_Mutation_p.D205Y	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	957	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGAGGACATGATCTCACAGC	0.423000													18	220					0	0	1	0	0
MCAT	27349	broad.mit.edu	37	22	43529295	43529295	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:43529295G>T	uc003bdl.1	-	3	976	c.927C>A	c.(925-927)ccC>ccA	p.P309P	MCAT_uc003bdm.1_3'UTR	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	309					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GGATGTGCCCGGGATGCCTGT	0.567000													6	129					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33703407	33703407	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:33703407C>A	uc002xbo.2	-	10	1666	c.1566G>T	c.(1564-1566)tcG>tcT	p.S522S	EDEM2_uc010zus.1_Silent_p.S301S|EDEM2_uc002xbq.2_Silent_p.S485S|EDEM2_uc010zut.1_Silent_p.S481S|EDEM2_uc002xbn.2_Silent_p.S370S|EDEM2_uc010zuu.1_Silent_p.S246S	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	522					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCCATGGCCCCGAACTAACAG	0.522000													7	289					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69520828	69520828	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:69520828G>T	uc021xow.1	-	3	1236	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	360					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGGTCATTCTGGGGTAACCAC	0.358000													7	253					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68343433	68343433	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:68343433C>A	uc001onv.3	+	13	1734	c.1467C>A	c.(1465-1467)ccC>ccA	p.P489P	PPP6R3_uc001onw.3_Silent_p.P489P|PPP6R3_uc001ony.4_Silent_p.P489P|PPP6R3_uc001onx.3_Silent_p.P489P|PPP6R3_uc009ysh.3_Silent_p.P438P|PPP6R3_uc001onu.3_Silent_p.P438P|PPP6R3_uc010rqc.2_Silent_p.P257P|PPP6R3_uc010rqd.2_Silent_p.P201P|PPP6R3_uc001onz.3_5'UTR	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	489					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AAGATCTTCCCGACGAAGTCA	0.428000													7	101					0	0	1	0	0
SPDYE6	729597	broad.mit.edu	37	7	101991207	101991207	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:101991207G>T	uc011kkp.2	-	4	1137	c.716C>A	c.(715-717)cCc>cAc	p.P239H		NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	239																	TTGCCAGGAGGGGAAGCCAGC	0.532000													10	398					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51297044	51297044	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51297044G>T	uc002pta.1	+	6	749	c.749G>T	c.(748-750)cGg>cTg	p.R250L		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	250						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGCCCACCCCGGGCAGCAGAG	0.632000													4	59					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21965074	21965074	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:21965074C>A	uc001rfh.3	-	33	4140	c.4120G>T	c.(4120-4122)Ggg>Tgg	p.G1374W	ABCC9_uc001rfi.1_Missense_Mutation_p.G1374W	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1374	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGTCTATCCCATCAATGACA	0.328000													5	111					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24933958	24933958	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:24933958C>A	uc002rfk.3	+	11	2836	c.2577C>A	c.(2575-2577)gcC>gcA	p.A859A	NCOA1_uc010eye.3_Silent_p.A859A|NCOA1_uc002rfi.3_Silent_p.A708A|NCOA1_uc002rfj.3_Silent_p.A859A|NCOA1_uc002rfl.3_Silent_p.A859A	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	859	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCCACTGCCAGACCCACTT	0.468000			T	PAX3	alveolar rhadomyosarcoma								4	41					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151020889	151020889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:151020889C>A	uc001ewn.3	+	0	631	c.566C>A	c.(565-567)tCa>tAa	p.S189*	C1orf56_uc021oyi.1_Nonsense_Mutation_p.S189*	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	Homo sapiens chromosome 1 open reading frame 56 (C1orf56), mRNA.	189						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGTCACCCTCACCCACAGCC	0.697000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	85					0	0	1	0	0
UHMK1	127933	broad.mit.edu	37	1	162470734	162470734	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:162470734G>T	uc001gcc.2	+	2	789	c.593G>T	c.(592-594)cGg>cTg	p.R198L	UHMK1_uc001gcd.3_Missense_Mutation_p.R124L|UHMK1_uc009wuu.2_Missense_Mutation_p.R198L	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.	198	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	RNA binding|protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GACGGGTATCGGGCTCCAGAA	0.423000													4	56					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26998696	26998696	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:26998696C>A	uc001isv.3	+	5	513	c.467_splice	c.e5+1	p.R156_splice	PDSS1_uc001isw.3_Splice_Site_p.R156_splice	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA.	156					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TAACAACTCCCGGTGAGCTCT	0.393000													5	113					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31332369	31332369	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:31332369G>T	uc021sia.1	-	16	2633	c.2319C>A	c.(2317-2319)acC>acA	p.T773T	TRPM1_uc010azy.3_Silent_p.T641T|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.T756T|TRPM1_uc001zfm.3_Silent_p.T734T	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	734					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCACATATCGGTCAGCAGCA	0.592000													4	86					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140794434	140794434	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:140794434C>A	uc003lkl.2	+	0	1692	c.1692C>A	c.(1690-1692)ccC>ccA	p.P564P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.P564P|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	562	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCGCCCGAGATCCTGT	0.652000													8	243					0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134212883	134212883	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:134212883G>T	uc003qei.4	+	1	760	c.483G>T	c.(481-483)gaG>gaT	p.E161D	BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.E161D	NM_003206	NP_938206	O43680	TCF21_HUMAN	Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.	161					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGAAACCCGAGAGTGACCTGA	0.657000													4	39					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72755164	72755164	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:72755164A>T	uc004ahm.2	+	7	1715	c.1098A>T	c.(1096-1098)aaA>aaT	p.K366N	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	366	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGAAAGTAAAACCAAACATGT	0.463000													7	127					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36689446	36689446	+	Silent	SNP	G	G	T	rs147901502	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:36689446G>T	uc003apg.3	-	29	4255	c.4024C>A	c.(4024-4026)Cgg>Agg	p.R1342R		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1342					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCTGCTCCCGGAAGGAATTC	0.632000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				5	105					0	0	1	0	0
DGUOK	1716	broad.mit.edu	37	2	74177856	74177856	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:74177856C>A	uc002sjx.3	+	3	673	c.588C>A	c.(586-588)ccC>ccA	p.P196P	DGUOK_uc002sjy.3_Intron|DGUOK_uc002sjz.3_Intron	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	196					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	p.P196P(2)		endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						AGGCTTCTCCCCAGGTAACAC	0.473000													7	228					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63273998	63273998	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:63273998C>A	uc001nxc.2	+	1	476	c.135_splice	c.e1+1	p.P45_splice	LGALS12_uc001nxa.2_Splice_Site_p.P45_splice|LGALS12_uc001nxb.2_Splice_Site_p.P45_splice|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	45					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	p.P45R(1)|p.P45Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GTCTTCCACCCGGTGAGTTGT	0.552000													6	144					0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175717739	175717739	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:175717739C>A	uc003mds.4	+	3	1562	c.1155C>A	c.(1153-1155)ccC>ccA	p.P385P	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Silent_p.P404P			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	385												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		CTGAAACTCCCTTAGAGAAAG	0.502000													8	173					0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10445903	10445903	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:10445903C>A	uc002mob.2	-	3	831	c.776G>T	c.(775-777)gGg>gTg	p.G259V	RAVER1_uc002moa.3_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.G182V|ICAM3_uc010xlf.1_3'UTR	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	259	Ig-like C2-type 3.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CATCTGGTCCCCCAGCGCCAG	0.662000													7	170					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97702552	97702552	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:97702552G>T	uc003ppb.3	-	9	1266	c.1000C>A	c.(1000-1002)Cga>Aga	p.R334R	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Silent_p.R334R|MMS22L_uc010kcn.1_Silent_p.R108R|MMS22L_uc003ppc.3_Silent_p.R334R	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	334					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATCTTCTTCGGTCACTTGAT	0.353000													4	66					0	0	1	0	0
ZNF593	51042	broad.mit.edu	37	1	26496949	26496949	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:26496949C>A	uc001bll.4	+	1	328	c.241C>A	c.(241-243)Cga>Aga	p.R81R		NM_015871	NP_056955	O00488	ZN593_HUMAN	Homo sapiens zinc finger protein 593 (ZNF593), mRNA.	81					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding|transcription corepressor activity|zinc ion binding	p.R81*(2)		large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCACTTCCGATCCAAAGA	0.507000													6	238					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097310	144097310	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:144097310G>T	uc022aoj.1	-	4	940	c.940C>A	c.(940-942)Cag>Aag	p.Q314K		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	314					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATGATGCGCTGGGGGGTCACC	0.577000													6	80					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005052	1005052	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:1005052G>T	uc002lqo.1	+	2	1552	c.1552G>T	c.(1552-1554)Ggg>Tgg	p.G518W		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	518					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGGCCTGGTCGGGGACCTGCT	0.692000													4	29					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31929348	31929348	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31929348C>A	uc003nyn.1	+	8	1203	c.814C>A	c.(814-816)Cca>Aca	p.P272T	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Missense_Mutation_p.P114T|SKIV2L_uc011dov.1_Missense_Mutation_p.P79T	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	272						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGTATCCACCCCAGAGGCCCC	0.567000													6	111					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672722	113672722	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:113672722G>T	uc003eau.3	+	2	636	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W	ZDHHC23_uc003eav.3_Missense_Mutation_p.G107W	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	113						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TTTCCTCCTGGGGGTGGTGGT	0.527000													8	213					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21218254	21218254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:21218254C>A	uc010bwn.1	-	4	587	c.505G>T	c.(505-507)Gga>Tga	p.G169*	ZP2_uc002dii.2_Nonsense_Mutation_p.G130*|ZP2_uc010bwo.3_Nonsense_Mutation_p.G169*	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	130					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ATGACAGCTCCGTGTCTTAAG	0.478000													6	193					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74565180	74565180	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:74565180C>A	uc002axo.3	+	6	1101	c.707C>A	c.(706-708)cCg>cAg	p.P236Q	CCDC33_uc002axp.3_Missense_Mutation_p.P58Q	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	439	C2.						protein binding	p.P236P(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTCCCTATCCCGTCCATGATG	0.607000													5	99					0	0	1	0	0
APITD1-CORT	100526739	broad.mit.edu	37	1	10494000	10494000	+	Silent	SNP	G	G	T	rs140669507	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:10494000G>T	uc001arf.3	+	1	569	c.153G>T	c.(151-153)tcG>tcT	p.S51S	APITD1-CORT_uc001are.3_Silent_p.S51S|APITD1-CORT_uc021ogd.1_Silent_p.S51S|APITD1-CORT_uc021oge.1_Non-coding_Transcript|APITD1-CORT_uc021ogf.1_Intron|APITD1-CORT_uc021ogg.1_Intron	NM_198544	NP_940946	Q8N2Z9	CENPS_HUMAN	Homo sapiens APITD1-CORT readthrough (APITD1-CORT), transcript variant 1, mRNA.	51					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	Fanconi anaemia nuclear complex|chromosome, centromeric region|cytosol	DNA binding|chromatin binding|protein binding										CGGCCATTTCGGAGCTGACTT	0.522000													6	183					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30006001	30006001	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:30006001C>A	uc002dve.3	-	3	956	c.465G>T	c.(463-465)agG>agT	p.R155S	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|HIRIP3_uc002dvf.3_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	Homo sapiens HIRA interacting protein 3 (HIRIP3), transcript variant 1, mRNA.	155	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTCCTCTCCCCTCTGTGCGG	0.567000													11	375					0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35854950	35854950	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:35854950G>T	uc001iyw.4	+	9	927	c.747_splice	c.e9-1	p.M249_splice	CCNY_uc001iyu.4_Splice_Site_p.M195_splice|CCNY_uc001iyv.4_Splice_Site_p.M195_splice|CCNY_uc001iyx.4_Splice_Site_p.M195_splice|CCNY_uc009xmb.3_Splice_Site_p.M224_splice|CCNY_uc010qet.2_Splice_Site_p.M116_splice	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	249	Cyclin N-terminal.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTGCTTTGCAGGAACGAGCTA	0.473000													6	101					0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126135967	126135967	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:126135967C>A	uc001qdh.3	-	7	1120	c.942G>T	c.(940-942)aaG>aaT	p.K314N	SRPR_uc010sbm.2_Missense_Mutation_p.K286N|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	314					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCAGTGTTCCCTTGGTCGCAC	0.493000													7	188					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599467	116599467	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:116599467G>T	uc003yny.3	-	4	3039	c.2461C>A	c.(2461-2463)Caa>Aaa	p.Q821K	TRPS1_uc011lhy.2_Missense_Mutation_p.Q812K|TRPS1_uc003ynz.3_Missense_Mutation_p.Q808K|TRPS1_uc010mcy.3_Missense_Mutation_p.Q808K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	808					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGCTTGCTTGGGTGTATGAC	0.587000									Langer-Giedion syndrome				7	227					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801364	24801364	+	Silent	SNP	C	C	T	rs145186487		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:24801364C>T	uc002dmm.3	+	5	1515	c.1401C>T	c.(1399-1401)tcC>tcT	p.S467S	TNRC6A_uc010bxs.3_Silent_p.S214S|TNRC6A_uc010vcc.1_Silent_p.S214S|TNRC6A_uc002dmn.3_Silent_p.S214S|TNRC6A_uc002dmo.3_Silent_p.S214S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	467	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TACCAAACTCCGGTTCAGTGC	0.438000													7	65					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133812132	133812132	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:133812132C>A	uc003vrm.1	+	0	28	c.12C>A	c.(10-12)tcC>tcA	p.S4S		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	4							ATP binding|kinase activity	p.S4S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGGCGACCTCCGAGAGGGCTC	0.612000													5	140					0	0	1	0	0
C21orf62	56245	broad.mit.edu	37	21	34166417	34166417	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:34166417G>T	uc021wik.1	-	0	316	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	C21orf49_uc002yqs.3_Intron|C21orf49_uc002yqu.4_Intron|C21orf49_uc002yqt.3_Intron|C21orf62_uc010glz.3_Missense_Mutation_p.L106M|C21orf62_uc011adt.2_Missense_Mutation_p.L106M|C21orf62_uc011adu.2_Missense_Mutation_p.L106M	NM_019596	NP_062542	Q9NYP8	CU062_HUMAN	Homo sapiens chromosome 21 open reading frame 62 (C21orf62), transcript variant 2, mRNA.	106										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GTGCTGCACAGGGAAAGCTTC	0.562000													5	62					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86086224	86086224	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:86086224C>A	uc001pbx.2	+	0	447	c.19C>A	c.(19-21)Cgt>Agt	p.R7S	CCDC81_uc001pbw.2_Missense_Mutation_p.R7S	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	7										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TACGATCGCCCGTGCCCTGCA	0.547000													7	234					0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143792155	143792155	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:143792155G>T	uc003qjl.3	+	4	651	c.389G>T	c.(388-390)cGg>cTg	p.R130L	PEX3_uc011edx.1_Missense_Mutation_p.R130L	NM_003630	NP_003621	P56589	PEX3_HUMAN	Homo sapiens peroxisomal biogenesis factor 3 (PEX3), mRNA.	130	Interaction with PEX19.				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	p.R130W(1)		endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GTTCTTTTGCGGGTCCAGTTA	0.363000													4	67					0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48653982	48653982	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:48653982G>T	uc001vby.1	-	5	664	c.638C>A	c.(637-639)cCa>cAa	p.P213Q	MED4_uc010tgf.1_Missense_Mutation_p.P167Q	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	Homo sapiens mediator complex subunit 4 (MED4), mRNA.	213					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AACATTACCTGGCAATCTTCC	0.453000													5	123					0	0	1	0	0
FADS1	3992	broad.mit.edu	37	11	61572174	61572174	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:61572174G>T	uc010rlm.2	-	6	1164	c.1036C>A	c.(1036-1038)Cag>Aag	p.Q346K	FADS1_uc001nsh.3_Missense_Mutation_p.Q205K|FADS1_uc010rln.1_Missense_Mutation_p.Q205K	NM_013402	NP_037534	O60427	FADS1_HUMAN	Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	289					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTTTCGCTGGATAACAAAA	0.542000													5	85					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47657103	47657103	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:47657103C>A	uc010rho.2	-	3	489	c.300G>T	c.(298-300)aaG>aaT	p.K100N	MTCH2_uc010rhp.2_5'UTR	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA.	100					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATACCTCACCCTTGTCACTCT	0.403000													5	72					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49580157	49580157	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:49580157C>A	uc003ozk.4	-	5	960	c.898G>T	c.(898-900)Ggg>Tgg	p.G300W	RHAG_uc010jzl.3_Missense_Mutation_p.G300W|RHAG_uc010jzm.3_Missense_Mutation_p.G300W	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	300					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GCAATGCTCCCAATAATCATA	0.463000													5	70					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103979095	103979095	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:103979095C>A	uc003hwx.4	-	3	1177	c.305G>T	c.(304-306)tGg>tTg	p.W102L	SLC9B2_uc010iln.2_5'UTR|SLC9B2_uc003hwy.3_Missense_Mutation_p.W102L|SLC9B2_uc011cew.2_Intron|SLC9B2_uc011cex.1_Intron|SLC9B2_uc011cey.2_Intron	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.	102					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										AGTAATTGACCAAACTACAGC	0.363000													7	221					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36046700	36046700	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:36046700C>A	uc002oal.1	-	12	1913	c.1884G>T	c.(1882-1884)acG>acT	p.T628T	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	628					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGTGGTCACCCGTTACCATGA	0.602000													6	206					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54591261	54591261	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:54591261G>T	uc002lgk.1	+	21	3846	c.3635G>T	c.(3634-3636)tGg>tTg	p.W1212L	WDR7_uc002lgl.1_Missense_Mutation_p.W1179L	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1212										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCACTGTTTGGGAGCCTTAC	0.502000													6	165					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128699627	128699627	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:128699627C>A	uc010fmd.2	-	20	3337	c.3205G>T	c.(3205-3207)Ggg>Tgg	p.G1069W	SAP130_uc002tpn.2_Missense_Mutation_p.G794W|SAP130_uc002tpp.2_Missense_Mutation_p.G1034W	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	1034					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTGACAGTCCCGTTCTTGTTA	0.418000													5	131					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719419	42719419	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:42719419C>A	uc021xxv.1	+	9	1968	c.1831C>A	c.(1831-1833)Cca>Aca	p.P611T	GHR_uc003jmt.3_Missense_Mutation_p.P604T|GHR_uc003jmu.3_Missense_Mutation_p.P604T|GHR_uc003jmv.2_Missense_Mutation_p.P604T|GHR_uc021xxw.1_Missense_Mutation_p.P604T|GHR_uc021xxx.1_Missense_Mutation_p.P604T|GHR_uc021xxy.1_Missense_Mutation_p.P604T|GHR_uc021xxz.1_Missense_Mutation_p.P604T|GHR_uc021xya.1_Missense_Mutation_p.P604T|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.P417T|GHR_uc021xyd.1_Missense_Mutation_p.P582T	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	604					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTACAGTCCCCACAGGGCCT	0.502000													5	55					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74490617	74490617	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:74490617C>A	uc002fcx.3	-	24	3352	c.3302G>T	c.(3301-3303)cGg>cTg	p.R1101L	GLG1_uc002fcw.4_Missense_Mutation_p.R1090L|GLG1_uc002fcy.4_Missense_Mutation_p.R1101L|GLG1_uc002fcz.4_Missense_Mutation_p.R518L	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	1101						Golgi membrane|integral to membrane	receptor binding	p.R1101L(2)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TAACCTCACCCGCTTATCCTC	0.423000													6	165					0	0	1	0	0
MMACHC	25974	broad.mit.edu	37	1	45974655	45974655	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:45974655G>T	uc009vxv.3	+	3	766	c.617G>T	c.(616-618)cGg>cTg	p.R206L		NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC), mRNA.	206			R -> P (in MMACHC).|R -> W (in MMACHC).				cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGACTTACCGGGATGCTGTG	0.557000													7	106					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446710	226446710	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:226446710C>A	uc002voe.2	+	3	752	c.577C>A	c.(577-579)Ccc>Acc	p.P193T	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	193																	GATTCCTCCTCCCAAACCGAA	0.478000													7	206					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45953577	45953577	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:45953577G>T	uc002zfe.1	-	2	599	c.533C>A	c.(532-534)cCg>cAg	p.P178Q	TSPEAR_uc010gpv.1_Missense_Mutation_p.P110Q	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	178	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CATGTCCACCGGGAGGCCGCA	0.682000													4	30					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340087	55340087	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:55340087C>A	uc010rih.2	+	0	484	c.484C>A	c.(484-486)Ctg>Atg	p.L162M		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L162M(2)|p.A161A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTTTCTTGCCCTGAGTTTGCC	0.473000													7	156					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43281789	43281789	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:43281789C>A	uc002yzq.1	-	6	885	c.774G>T	c.(772-774)ctG>ctT	p.L258L	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCTCATCCCCAGCAGCTTGA	0.512000													5	74					0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63995078	63995078	+	Silent	SNP	C	C	A	rs151057740		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:63995078C>A	uc001nyp.4	+	2	699	c.519C>A	c.(517-519)ctC>ctA	p.L173L	TRPT1_uc010rnc.2_5'Flank|TRPT1_uc010rnd.2_5'Flank|TRPT1_uc001nyo.3_5'Flank|TRPT1_uc010rnf.2_5'Flank|TRPT1_uc010rne.2_5'Flank|TRPT1_uc001nyn.3_5'Flank|NUDT22_uc009ype.3_Silent_p.L173L|NUDT22_uc001nyq.4_Intron|NUDT22_uc010rng.2_Non-coding_Transcript|DNAJC4_uc001nys.3_5'Flank|DNAJC4_uc001nyt.3_5'Flank|DNAJC4_uc001nyu.3_5'Flank	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 22 (NUDT22), transcript variant 1, mRNA.	173	Nudix hydrolase.						hydrolase activity	p.L173L(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						ACCAGGACCTCGCTGGGCAGC	0.612000													6	103					0	0	1	0	0
ACAT1	38	broad.mit.edu	37	11	108017036	108017036	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:108017036C>A	uc001pjy.3	+	10	1189	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P		NM_000019	NP_000010	P24752	THIL_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.	371					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AGATTGATCCCCAAAAAGTGA	0.363000													7	163					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91864869	91864869	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:91864869G>A	uc003ulr.1	-	7	1469	c.577C>T	c.(577-579)Cct>Tct	p.P193S	KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulq.1_Missense_Mutation_p.P193S|KRIT1_uc003uls.1_Missense_Mutation_p.P193S|KRIT1_uc003ult.1_Missense_Mutation_p.P193S|KRIT1_uc003ulu.1_Missense_Mutation_p.P193S|KRIT1_uc003ulv.1_Missense_Mutation_p.P193S	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	193					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATATGCAGGATTTATGACA	0.393000													7	103					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111899598	111899598	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:111899598C>A	uc001pmo.3	+	3	1248	c.589C>A	c.(589-591)Cct>Act	p.P197T	DLAT_uc010rwr.2_Intron|DLAT_uc021qqn.1_Missense_Mutation_p.P141T	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	197					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	AGCACCAACCCCTGCTGCCAC	0.532000													7	158					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77751972	77751972	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:77751972C>A	uc001xti.2	-	12	1537	c.1336G>T	c.(1336-1338)Gga>Tga	p.G446*	POMT2_uc001xth.1_Nonsense_Mutation_p.G144*	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	446	MIR 2.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCCCCTGTTCCATTCTGCCAT	0.428000													10	534					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169847418	169847418	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:169847418C>A	uc002ueo.1	-	8	927	c.801G>T	c.(799-801)acG>acT	p.T267T		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	267	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.T267T(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GCTCATAGTCCGTAAACTTGG	0.403000													5	181					0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17919414	17919414	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:17919414G>T	uc021trj.1	+	13	1742	c.1363G>T	c.(1363-1365)Ggg>Tgg	p.G455W	LRRC48_uc021trk.1_Missense_Mutation_p.G455W|ATPAF2_uc002gsd.1_Non-coding_Transcript	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	455						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TAATGCTGTCGGGGCATCGCA	0.443000													7	105					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748567	8748567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:8748567C>A	uc003wsj.1	-	0	2565	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	668										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AAATGCAGTTCCTCCAGCACC	0.612000													4	17					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45515405	45515405	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:45515405C>A	uc001uzp.2	-	9	1466	c.1424G>T	c.(1423-1425)cGg>cTg	p.R475L		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	475					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding	p.R475L(2)|p.R475W(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GATGATGTACCGAACACACTG	0.338000													4	43					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72056881	72056881	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:72056881C>A	uc001swo.2	-	0	869	c.510G>T	c.(508-510)ccG>ccT	p.P170P	ZFC3H1_uc010sts.2_Silent_p.P170P|ZFC3H1_uc001swp.3_Silent_p.P170P|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	170					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTCTGCACCCCGGCTTGCCTC	0.657000													6	182					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77767489	77767489	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:77767489C>A	uc001xti.2	-	5	961	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	POMT2_uc001xth.1_5'UTR|POMT2_uc010asr.2_Missense_Mutation_p.G143W	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	254					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GTGTTCAGCCCCACTTGAAGG	0.517000											OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	135					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51869093	51869093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:51869093C>A	uc001csq.1	-	16	1881	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*	EPS15_uc009vyz.1_Nonsense_Mutation_p.E463*|EPS15_uc001csp.3_Nonsense_Mutation_p.E283*	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	597					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	SH3 domain binding|calcium ion binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTTTTACCTCTTTTGAATGT	0.363000			T	MLL	ALL								5	68					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78205062	78205062	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:78205062C>A	uc001dht.3	-	5	679	c.332G>T	c.(331-333)cGa>cTa	p.R111L	USP33_uc001dhu.3_Missense_Mutation_p.R80L|USP33_uc001dhv.3_5'UTR|USP33_uc001dhw.3_Missense_Mutation_p.R111L	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	111					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ACACCATACTCGAAGAGTGGT	0.363000													4	83					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286335	62286335	+	Missense_Mutation	SNP	G	G	T	rs116797830	by1000genomes	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62286335G>T	uc001ntl.3	-	4	15854	c.15554C>A	c.(15553-15555)cCg>cAg	p.P5185Q	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5185					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCGAAGGACGGTGTTTTGAC	0.498000													4	74					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572639	25572639	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:25572639C>A	uc002kwg.2	-	8	1783	c.1324G>T	c.(1324-1326)Ggg>Tgg	p.G442W	CDH2_uc010xbn.1_Missense_Mutation_p.G411W	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	442	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G442W(2)|p.D441Y(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTGACTAACCCGTCGTTGCTG	0.537000													6	100					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634292	32634292	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:32634292C>A	uc003zrg.1	-	0	1376	c.1286G>T	c.(1285-1287)tGg>tTg	p.W429L	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	429					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGAATCCTCCCAATGCAGCTG	0.458000													7	237					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66981227	66981227	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:66981227G>T	uc002jhu.3	-	32	4394	c.4251C>A	c.(4249-4251)ccC>ccA	p.P1417P	ABCA9_uc010dez.3_Silent_p.P1379P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1417	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGGTCTTCACGGGAGCCTTCA	0.532000													4	99					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38325650	38325650	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:38325650C>A	uc010cwt.1	+	11	2334	c.2039C>A	c.(2038-2040)cCa>cAa	p.P680Q	CASC3_uc002hue.3_Missense_Mutation_p.P680Q	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	680	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AAGCCCTCCCCACCCCGGAGG	0.582000													6	101					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44159892	44159892	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:44159892C>A	uc002ikc.3	-	3	1919	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	KANSL1_uc002ikd.3_Missense_Mutation_p.G483V|KANSL1_uc010dav.3_Missense_Mutation_p.G483V	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	483						MLL1 complex	protein binding										AGGTACCTCCCCAAGAACTAT	0.388000													5	36					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454514	100454514	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:100454514G>T	uc003uwp.3	+	4	615	c.473G>T	c.(472-474)cGg>cTg	p.R158L	SLC12A9_uc003uwo.1_Missense_Mutation_p.R69L|SLC12A9_uc003uwq.3_Missense_Mutation_p.R69L|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'UTR|SLC12A9_uc003uwv.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	158						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGTGGGCTCCGGGTCCTGCCC	0.682000													5	99					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27389177	27389177	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:27389177C>A	uc009xku.1	-	0	251	c.79G>T	c.(79-81)Ggg>Tgg	p.G27W	ANKRD26_uc001ith.2_Missense_Mutation_p.G27W	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	27	Poly-Gly.					centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGCTCGCCCCCGCCTCCCGCG	0.672000													5	86					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683567	159683567	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:159683567C>A	uc001ftw.3	-	1	527	c.423G>T	c.(421-423)aaG>aaT	p.K141N	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	141	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CAGTGTATCCCTTCTTCAGAC	0.552000													10	394					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45012124	45012124	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:45012124C>A	uc010zxr.1	-	9	897	c.687G>T	c.(685-687)caG>caT	p.Q229H	ELMO2_uc002xrs.1_5'Flank|ELMO2_uc002xrt.1_Missense_Mutation_p.Q229H|ELMO2_uc002xru.1_Missense_Mutation_p.Q229H|ELMO2_uc010zxs.1_Missense_Mutation_p.Q46H|ELMO2_uc002xrw.3_Missense_Mutation_p.Q46H|ELMO2_uc002xrx.1_Missense_Mutation_p.Q229H	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	229					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCTGAATCTCCTGGTTGGAGC	0.428000													8	174					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201331135	201331135	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:201331135C>A	uc001gwf.3	-	12	685	c.616G>T	c.(616-618)Ggg>Tgg	p.G206W	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_Missense_Mutation_p.G199W|TNNT2_uc001gwg.3_Missense_Mutation_p.G196W|TNNT2_uc001gwh.3_Missense_Mutation_p.G187W|TNNT2_uc001gwi.3_Missense_Mutation_p.G166W|TNNT2_uc009wzr.3_Missense_Mutation_p.G137W	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	209					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TGCCTCTTCCCACTTTTCCGC	0.582000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	164					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32126196	32126196	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:32126196G>T	uc001btk.1	-	61	4234	c.3869C>A	c.(3868-3870)cCg>cAg	p.P1290Q	COL16A1_uc001btj.1_Missense_Mutation_p.P1088Q	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1290	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AACGTGTCCCGGGGGACCGGG	0.527000													4	99					0	0	1	0	0
RHOJ	57381	broad.mit.edu	37	14	63757599	63757599	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:63757599G>T	uc001xgb.2	+	4	988	c.502G>T	c.(502-504)Gga>Tga	p.G168*		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	Homo sapiens ras homolog gene family, member J (RHOJ), mRNA.	168					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.I167I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GTTTAAGATCGGAGCACAGTG	0.428000													4	100					0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000													3	20					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688260	109688260	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:109688260C>A	uc004bcz.3	+	2	2356	c.2067C>A	c.(2065-2067)ccC>ccA	p.P689P	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.P537P|ZNF462_uc004bda.3_Silent_p.P537P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	689					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P689P(2)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATTTGTCACCCGTGAAGAAGA	0.433000													8	248					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58723010	58723010	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:58723010C>A	uc002qrq.1	+	7	1393	c.934C>A	c.(934-936)Cgc>Agc	p.R312S	ZNF274_uc002qrr.1_Missense_Mutation_p.R280S|ZNF274_uc002qrs.1_Missense_Mutation_p.R207S|ZNF274_uc010eum.1_Missense_Mutation_p.R72S	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	313	KRAB 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R280S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GACCGAGTACCGCGATGTGAT	0.617000													5	135					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722238	26722238	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:26722238G>T	uc003xfc.1	-	0	685	c.249C>A	c.(247-249)tcC>tcA	p.S83S	ADRA1A_uc010lul.1_Silent_p.S83S|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Silent_p.S83S|ADRA1A_uc010lum.1_Silent_p.S83S|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Silent_p.S83S|ADRA1A_uc003xfh.1_Silent_p.S83S|ADRA1A_uc022atd.1_Silent_p.S83S	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	83					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CGAAGATGGCGGAGAAGGGCA	0.632000													7	135					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55481486	55481486	+	Missense_Mutation	SNP	C	C	A	rs140778052	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:55481486C>A	uc021vbq.1	+	1	214	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	NLRP2_uc010yfp.2_Missense_Mutation_p.L35M|NLRP2_uc002qij.3_Missense_Mutation_p.L35M|NLRP2_uc010esp.3_Missense_Mutation_p.L35M|NLRP2_uc010esn.3_Missense_Mutation_p.L35M|NLRP2_uc010eso.3_Missense_Mutation_p.L35M	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	35	DAPIN.			L -> P (in Ref. 1; AAG15253).	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCTTCTCCCTGGCACACGA	0.552000													6	100					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104313041	104313041	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:104313041C>A	uc004bbn.3	+	9	1336	c.1246C>A	c.(1246-1248)Cac>Aac	p.H416N		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	416					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.H416N(2)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CAGAGGAACCCACCAGCACCA	0.463000													6	199					0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39610213	39610213	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:39610213C>A	uc003thc.4	+	1	253	c.238C>A	c.(238-240)Cga>Aga	p.R80R		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.	80																	TGGACGACTCCGAGGAACATT	0.348000													4	71					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62267307	62267307	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:62267307C>A	uc003dlb.3	+	26	4554	c.3835C>A	c.(3835-3837)Ctt>Att	p.L1279I	PTPRG_uc003dlc.3_Missense_Mutation_p.L1250I|PTPRG_uc011bfi.2_Missense_Mutation_p.L525I|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	1279	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TACCGTCACCCTTATCAGCAA	0.418000													5	98					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33924204	33924204	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:33924204C>A	uc003ztq.1	-	23	2703	c.2590_splice	c.e23+1	p.G864_splice	UBAP2_uc011loc.1_Splice_Site_p.G773_splice|UBAP2_uc011lod.1_Splice_Site_p.G597_splice|UBAP2_uc011loe.1_Splice_Site_p.G619_splice|UBAP2_uc011lof.1_Splice_Site_p.G789_splice|UBAP2_uc003ztn.1_Splice_Site_p.G103_splice|UBAP2_uc003zto.1_Splice_Site_p.G103_splice|UBAP2_uc003ztp.2_Splice_Site_p.G103_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	864										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCAAACTCACCTGGATATGGA	0.562000													6	103					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81070925	81070925	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:81070925C>A	uc001kaf.2	+	23	3652	c.3080C>A	c.(3079-3081)cCg>cAg	p.P1027Q	ZMIZ1_uc001kag.2_Missense_Mutation_p.P903Q|ZMIZ1_uc010qlq.1_Intron	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	1027					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCCGACATGCCGGAGCCTTCG	0.677000													5	124					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16103700	16103700	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:16103700G>T	uc010bvi.3	+	2	468	c.293G>T	c.(292-294)cGg>cTg	p.R98L	ABCC1_uc010bvj.3_Missense_Mutation_p.R98L|ABCC1_uc010bvk.3_Missense_Mutation_p.R98L|ABCC1_uc010bvl.3_Missense_Mutation_p.R98L|ABCC1_uc010bvm.3_Missense_Mutation_p.R98L|ABCC1_uc002del.4_5'UTR	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	98					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAAAGAAGTCGGGGCATATTC	0.542000													5	132					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755622	146755622	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:146755622C>A	uc010khw.1	+	8	3745	c.3275C>A	c.(3274-3276)cCg>cAg	p.P1092Q	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1092					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGGTCTCCCCGCCCGCGGAC	0.652000													5	128					0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110279719	110279719	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:110279719G>T	uc001dyo.2	-	8	962	c.652C>A	c.(652-654)Cag>Aag	p.Q218K	GSTM3_uc001dyp.2_Missense_Mutation_p.Q215K	NM_000849	NP_000840	P21266	GSTM3_HUMAN	Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA.	218					establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTGCCCCACTGGGCCATCTTG	0.473000													5	104					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168098403	168098403	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:168098403C>A	uc002udx.3	+	7	1248	c.1159C>A	c.(1159-1161)Cca>Aca	p.P387T	XIRP2_uc010fpn.3_Missense_Mutation_p.P420T|XIRP2_uc010fpo.3_Missense_Mutation_p.P387T|XIRP2_uc002udy.3_Missense_Mutation_p.P212T|XIRP2_uc010fpq.3_Missense_Mutation_p.P165T|XIRP2_uc010fpr.3_Missense_Mutation_p.P165T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	212					actin cytoskeleton organization	cell junction	actin binding	p.T386T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGACAACCCCAGCCAAGCA	0.353000													7	139					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485187	57485187	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:57485187C>A	uc001smz.3	+	1	741	c.363C>A	c.(361-363)ccC>ccA	p.P121P		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	121					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P121P(4)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGCTGTTCCCGTCTCCAGCA	0.617000													6	158					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39870679	39870679	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39870679C>A	uc002olb.3	+	11	2639	c.1604C>A	c.(1603-1605)cCg>cAg	p.P535Q	SAMD4B_uc002ola.3_Missense_Mutation_p.P535Q	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	535							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGGACATTCCCGCGCAAAGCC	0.577000													4	41					0	0	1	0	0
ILK	3611	broad.mit.edu	37	11	6631262	6631262	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:6631262C>A	uc001mee.3	+	10	1209	c.1074C>A	c.(1072-1074)ccC>ccA	p.P358P	ILK_uc001mef.3_Silent_p.P358P|ILK_uc010rap.2_Silent_p.P224P|ILK_uc010raq.2_Silent_p.P297P|ILK_uc001meh.3_Silent_p.P358P	NM_001014794	NP_004508	Q13418	ILK_HUMAN	Homo sapiens integrin-linked kinase (ILK), transcript variant 2, mRNA.	358	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	p.P358P(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGGTAGCCCCCGAAGGTGAGT	0.532000													4	109					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554274	28554274	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:28554274C>A	uc003nlo.3	-	0	839	c.221G>T	c.(220-222)cGg>cTg	p.R74L	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	74	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GCAAAGTTCCCGCAGTTGACT	0.547000													5	81					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391915	117391915	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:117391915G>T	uc001prh.1	-	5	1325	c.1323C>A	c.(1321-1323)tcC>tcA	p.S441S	DSCAML1_uc001pri.1_Silent_p.S245S	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	381	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.S441S(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTAGGCCCCGGAATGGCTCT	0.652000													6	154					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107330644	107330644	+	Missense_Mutation	SNP	C	C	A	rs147952620	by1000genomes	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:107330644C>A	uc003vep.3	+	9	1449	c.1225C>A	c.(1225-1227)Cgc>Agc	p.R409S	SLC26A4_uc011kmb.2_5'Flank|SLC26A4_uc011kmc.2_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	409			R -> H (in PDS).|R -> P (in DFNB4).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGCTCTTTCCCGCACGGCCGT	0.493000									Pendred syndrome				6	105					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130027705	130027705	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:130027705G>T	uc003vpx.3	+	9	1185	c.1113G>T	c.(1111-1113)caG>caT	p.Q371H		NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	371					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CCTACAGCCAGGGCATCAAGT	0.547000													10	405					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200572	47200572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:47200572C>A	uc003oyv.3	-	5	2330	c.1897G>T	c.(1897-1899)Gga>Tga	p.G633*		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	633					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTCTTGACTCCAATAATTTCG	0.478000													45	120					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183534901	183534901	+	Missense_Mutation	SNP	G	G	A	rs137937390	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:183534901G>A	uc001gqj.4	-	9	1213	c.938C>T	c.(937-939)cCg>cTg	p.P313L	NCF2_uc010pod.2_Missense_Mutation_p.P268L|NCF2_uc010poe.2_Missense_Mutation_p.P232L|NCF2_uc001gqk.4_Missense_Mutation_p.P313L	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	313					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GTCGGACTGCGGAGAGCTTTC	0.597000													16	69					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20657910	20657910	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:20657910C>A	uc001mqd.3	+	10	1955	c.1682C>A	c.(1681-1683)cCg>cAg	p.P561Q	SLC6A5_uc009yic.3_Missense_Mutation_p.P326Q	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	561					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCTCTCTCTCCGTTCTGGGCC	0.517000													4	70					0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179301234	179301234	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:179301234C>A	uc003fjw.3	+	11	1293	c.1120C>A	c.(1120-1122)Cca>Aca	p.P374T	ACTL6A_uc003fjx.3_Missense_Mutation_p.P332T|ACTL6A_uc003fjy.3_Missense_Mutation_p.P332T	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	374					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GAAAACTCCTCCAGTAAGTTC	0.373000													7	162					0	0	1	0	0
TOMM20L	387990	broad.mit.edu	37	14	58869453	58869453	+	Missense_Mutation	SNP	G	G	T	rs111888052		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:58869453G>T	uc001xdr.1	+	2	268	c.236G>T	c.(235-237)cGg>cTg	p.R79L	TOMM20L_uc010trq.1_Intron	NM_207377	NP_997260	Q6UXN7	TO20L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 20 homolog (yeast)-like (TOMM20L), nuclear gene encoding mitochondrial protein, mRNA.	79					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						CAAGAGGTACGGATGGGAGAA	0.308000													6	263					0	0	1	0	0
STYX	6815	broad.mit.edu	37	14	53211583	53211583	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:53211583C>A	uc010tqy.2	+	2	133	c.71C>A	c.(70-72)cCt>cAt	p.P24H	STYX_uc001xaa.3_Missense_Mutation_p.P24H	NM_001130701	NP_660294	Q8WUJ0	STYX_HUMAN	Homo sapiens serine/threonine/tyrosine interacting protein (STYX), transcript variant 2, mRNA.	24					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TGGACCTACCCTATGAGACGA	0.368000													5	79					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81161416	81161416	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:81161416C>A	uc002fgh.1	-	37	6294	c.6294G>T	c.(6292-6294)cgG>cgT	p.R2098R	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2100					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCCTCCTCCCCGGTACACAG	0.527000													5	46					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086232	55086232	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:55086232C>A	uc010ern.3	+	4	856	c.387C>A	c.(385-387)ccC>ccA	p.P129P	LILRA1_uc002qgg.4_Silent_p.P129P|LILRA1_uc002qgf.3_Silent_p.P129P|LILRA1_uc010yfe.1_Silent_p.P129P|LILRA1_uc010yff.1_Silent_p.P117P|LILRA1_uc010ero.3_Silent_p.P117P|LILRA1_uc010yfg.1_Silent_p.P129P			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	131	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGCTCTGCCCAGCCCTGTGG	0.562000													6	165					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56688674	56688674	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:56688674C>A	uc010dcz.2	-	9	1168	c.1050G>T	c.(1048-1050)atG>atT	p.M350I	TEX14_uc002iwr.2_Missense_Mutation_p.M344I|TEX14_uc002iws.2_Missense_Mutation_p.M344I|TEX14_uc010dda.2_Missense_Mutation_p.M124I	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	350	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAATCACCTCCATGTGCAGCA	0.507000													6	84					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737287	248737287	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:248737287C>A	uc001iep.1	-	0	772	c.772G>T	c.(772-774)Ggt>Tgt	p.G258C		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGGAAGCACCGAAGAGCAGC	0.552000													5	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497435	179497435	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:179497435C>A	uc021vsy.1	-	183	35819	c.35594G>T	c.(35593-35595)aGg>aTg	p.R11865M	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R5560M|TTN_uc021vta.1_Missense_Mutation_p.R5493M|TTN_uc021vtb.1_Missense_Mutation_p.R5368M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12792	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGGCTCCCTGGATACTTC	0.423000													7	226					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70754459	70754459	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:70754459C>A	uc003kbp.1	+	1	529	c.266C>A	c.(265-267)tCt>tAt	p.S89Y	BDP1_uc003kbn.1_Missense_Mutation_p.S89Y|BDP1_uc003kbo.3_Missense_Mutation_p.S89Y	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	89	Interaction with ZBTB43.|Ser-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATCTTCCTCTACTGTTTCA	0.363000													7	147					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763054	43763054	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43763054G>T	uc002owd.4	-	3	1042	c.943C>A	c.(943-945)Cga>Aga	p.R315R	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Silent_p.R222R|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	315	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCACCATATCGGTCCCGTATT	0.498000													5	133					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102647391	102647391	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:102647391G>T	uc001phg.2	-	4	776	c.739C>A	c.(739-741)Cag>Aag	p.Q247K		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	247					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AGGCGGAACTGGGCGAGCTCT	0.498000													7	106					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55033471	55033471	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:55033471C>A	uc002xxp.2	+	6	2254	c.2029C>A	c.(2029-2031)Cgg>Agg	p.R677R	CASS4_uc010zze.1_Silent_p.R623R|CASS4_uc002xxr.2_Silent_p.R677R|CASS4_uc010gio.2_Silent_p.R240R	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	677					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGAACACTGCCGGCTCTACTT	0.537000													5	80					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11294298	11294298	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11294298C>A	uc001asd.3	-	13	2354	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	745					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTTCCAATCCCACTGTGCTCC	0.502000													6	215					0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120096400	120096400	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:120096400G>T	uc001pxb.3	+	1	503	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	Homo sapiens OAF homolog (Drosophila) (OAF), mRNA.	88								p.G88V(1)		kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGATCCTGGGGGAGCTGGA	0.627000													5	98					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445109	150445109	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:150445109C>A	uc009wlr.3	+	10	3886	c.3685C>A	c.(3685-3687)Cga>Aga	p.R1229R	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Silent_p.R1203R	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1229	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TATCTTCTCTCGAGATGCACC	0.597000													5	88					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360027	54360027	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:54360027G>T	uc021onq.1	+	0	167	c.144G>T	c.(142-144)acG>acT	p.T48T	DIO1_uc021onp.1_Splice_Site_p.G49_splice|DIO1_uc009vzl.3_Silent_p.T48T|DIO1_uc001cwb.3_Silent_p.T48T|DIO1_uc021onr.1_Silent_p.T48T|DIO1_uc001cwd.3_Splice_Site|DIO1_uc001cwe.3_Splice_Site|DIO1_uc001cwf.3_Non-coding_Transcript|DIO1_uc001cwg.3_Non-coding_Transcript	NM_000792	NP_001034804	P49895	IOD1_HUMAN	Homo sapiens deiodinase, iodothyronine, type I (DIO1), transcript variant 1, mRNA.	48					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GCGAGAAGACGGGTATGACCA	0.527000													5	150					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2929962	2929962	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:2929962C>A	uc003gfq.3	+	14	2207	c.2019C>A	c.(2017-2019)ccC>ccA	p.P673P	ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_Silent_p.P642P|ADD1_uc003gfs.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	642					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAACTCTCCCCGATCTGTCCC	0.562000													9	317					0	0	1	0	0
GHRH	2691	broad.mit.edu	37	20	35884893	35884893	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:35884893C>A	uc002xgr.3	-	1	111	c.92G>T	c.(91-93)cGg>cTg	p.R31L	GHRH_uc021wdc.1_Missense_Mutation_p.R31L|GHRH_uc002xgt.3_Missense_Mutation_p.R31L|GHRH_uc002xgs.3_Missense_Mutation_p.R31L	NM_021081	NP_066567	P01286	SLIB_HUMAN	Homo sapiens growth hormone releasing hormone (GHRH), transcript variant 1, mRNA.	31					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				ATCTGCATACCGCCGCATCCT	0.627000													4	45					0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83754301	83754301	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:83754301G>T	uc003pjp.2	-	3	551	c.443C>A	c.(442-444)cCc>cAc	p.P148H	UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjr.3_Missense_Mutation_p.P116H	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	148						cytoplasm	ligase activity										ATTAGCAAAGGGGTCAGGATG	0.453000													8	257					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55349365	55349365	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:55349365C>A	uc001cyc.1	-	1	442	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W	DHCR24_uc010ook.1_Missense_Mutation_p.G64W	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	105	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TTGTACTTCCCGACACGTAGT	0.532000													6	157					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9970280	9970280	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:9970280C>A	uc003bua.3	+	11	1507	c.1289C>A	c.(1288-1290)cCa>cAa	p.P430Q	CIDEC_uc003bto.3_Intron|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Missense_Mutation_p.P334Q|IL17RC_uc003btz.3_Missense_Mutation_p.P359Q|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.P359Q|IL17RC_uc010hcu.3_Intron|IL17RC_uc003bub.3_Missense_Mutation_p.P344Q|IL17RC_uc010hcv.3_Intron|IL17RC_uc003buc.3_Intron|IL17RC_uc011atq.2_Missense_Mutation_p.P344Q|IL17RC_uc003bue.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	430						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCGAGTTCCCATTGCTGAAA	0.612000													7	204					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5831522	5831522	+	Missense_Mutation	SNP	C	C	A	rs139295920		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:5831522C>A	uc002mdf.1	-	3	1583	c.1057G>T	c.(1057-1059)Ggc>Tgc	p.G353C	FUT6_uc021unl.1_Missense_Mutation_p.G353C|FUT6_uc002mdg.1_Missense_Mutation_p.G353C|FUT6_uc002mdh.1_Missense_Mutation_p.G353C|FUT6_uc021unm.1_Missense_Mutation_p.G353C	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	353					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						GCCGCTATGCCGCGTGTCTGG	0.632000													5	122					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858737	9858737	+	Silent	SNP	C	C	A	rs113847665	by1000genomes	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:9858737C>A	uc010uym.2	-	13	2974	c.2664G>T	c.(2662-2664)acG>acT	p.T888T	GRIN2A_uc002czo.4_Silent_p.T888T|GRIN2A_uc010uyn.2_Silent_p.T731T|GRIN2A_uc002czr.4_Silent_p.T888T	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	888					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T888T(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTGGGATCCCGTCAGATTGA	0.468000													6	184					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92003832	92003832	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:92003832G>T	uc004aqo.1	-	11	1477	c.905C>A	c.(904-906)cCg>cAg	p.P302Q	SEMA4D_uc011ltm.1_Missense_Mutation_p.P302Q|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Missense_Mutation_p.P302Q	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	302	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCAGGCCCGGGGACCTGAG	0.602000													6	123					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9878189	9878189	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:9878189G>T	uc001mib.2	-	18	2317	c.2179C>A	c.(2179-2181)Ctg>Atg	p.L727M	SBF2_uc001mif.3_Missense_Mutation_p.L483M|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	727					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GACTTGCTCAGGGTAGGCCAA	0.463000													8	301					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112686742	112686742	+	Missense_Mutation	SNP	C	C	A	rs150870104	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:112686742C>A	uc002thk.1	+	1	229	c.107C>A	c.(106-108)cCg>cAg	p.P36Q	MERTK_uc002thl.1_5'UTR|Metazoa_SRP_uc021vmv.1_5'Flank	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	36					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CCGCTATTCCCGGGACCTTTT	0.493000													5	87					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299931	62299931	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62299931G>T	uc001ntl.3	-	4	2258	c.1958C>A	c.(1957-1959)cCc>cAc	p.P653H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	653					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTCCTTTGGGTAGAGTCAT	0.502000													7	189					0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124692007	124692007	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:124692007G>T	uc001lgw.2	-	5	1499	c.1274C>A	c.(1273-1275)cCg>cAg	p.P425Q	C10orf88_uc001lgx.2_Missense_Mutation_p.P327Q	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	425										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CCCAGTGGGCGGGGAGTTAGG	0.383000													4	68					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20219789	20219789	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:20219789G>T	uc003cbu.3	-	3	545	c.390C>A	c.(388-390)tcC>tcA	p.S130S	SGOL1_uc003cbw.3_Silent_p.S130S|SGOL1_uc003cbv.3_Silent_p.S130S|SGOL1_uc003cbt.3_Silent_p.S130S|SGOL1_uc010hfa.3_Silent_p.S130S|SGOL1_uc003cbs.3_Silent_p.S130S|SGOL1_uc003cbr.3_Silent_p.S130S|SGOL1_uc003ccc.3_Silent_p.S130S|SGOL1_uc021wtx.1_Silent_p.S9S|SGOL1_uc021wty.1_Silent_p.S9S|SGOL1_uc003ccb.3_Silent_p.S130S|SGOL1_uc003cca.3_Silent_p.S130S|SGOL1_uc003cby.3_Silent_p.S130S|SGOL1_uc003cbx.3_Silent_p.S130S|SGOL1_uc003cbz.3_Silent_p.S130S	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	130	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ATAAATTTCTGGAGCTGTCAT	0.303000													5	100					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134039332	134039332	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:134039332C>A	uc004cag.3	+	19	2910	c.2799C>A	c.(2797-2799)ccC>ccA	p.P933P	NUP214_uc004cah.3_Silent_p.P923P|NUP214_uc004cai.3_Silent_p.P363P|NUP214_uc004caf.1_Silent_p.P922P|NUP214_uc010mzf.3_Silent_p.P231P	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	933	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.P933P(2)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AATCCTTGCCCAAAGTACCAG	0.383000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								6	156					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313651	54313651	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:54313651C>A	uc002qcj.4	-	2	1482	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G421V|NLRP12_uc002qci.4_Missense_Mutation_p.G421V|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G421V	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	421	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAACAGCCCCCCACCCTCCAG	0.622000													7	170					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111217125	111217125	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:111217125C>A	uc001dzv.1	-	0	531	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	103						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACGCGCTCCCCGCAGCAGTCC	0.731000													4	46					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57881902	57881902	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:57881902C>A	uc001sog.3	+	0	183	c.29C>A	c.(28-30)cCg>cAg	p.P10Q	ARHGAP9_uc001sod.3_Intron|ARHGAP9_uc001soe.1_Intron|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Missense_Mutation_p.P10Q|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	10					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GATGGCGTCCCGGGTTGCTTG	0.662000													6	186					0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27699642	27699642	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:27699642C>A	uc001boa.3	-	4	384	c.378G>T	c.(376-378)gaG>gaT	p.E126D	FCN3_uc001bob.3_Missense_Mutation_p.E115D	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	126	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCGCCCCCCTCGGTGTCCA	0.647000													6	94					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551953	100551953	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:100551953G>T	uc003uxl.1	+	0	1204	c.404G>T	c.(403-405)tGg>tTg	p.W135L	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACCATCATCTGGTCCTCAACA	0.418000													153	760					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19901468	19901468	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:19901468C>A	uc010rdm.2	+	4	926	c.565C>A	c.(565-567)Cga>Aga	p.R189R	NAV2_uc001mpp.3_Silent_p.R125R|NAV2_uc001mpr.4_Silent_p.R189R|NAV2_uc021qew.1_Silent_p.R189R	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	189	CH.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGCCTCTCCCGATACAagca	0.597000													4	128					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43034706	43034706	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:43034706C>A	uc002xma.3	+	1	213	c.124C>A	c.(124-126)Cca>Aca	p.P42T	HNF4A_uc010zwo.1_Silent_p.P32P|HNF4A_uc002xlt.3_Missense_Mutation_p.P20T|HNF4A_uc002xlu.3_Missense_Mutation_p.P20T|HNF4A_uc002xlv.3_Missense_Mutation_p.P20T|HNF4A_uc002xly.3_Missense_Mutation_p.P42T|HNF4A_uc010ggq.3_Missense_Mutation_p.P35T|HNF4A_uc002xlz.3_Missense_Mutation_p.P42T|MIR3646_uc021wed.1_5'Flank	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	42					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGACACGTCCCCATCAGAAGG	0.632000													10	251					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127650602	127650602	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:127650602C>A	uc004bpc.3	-	18	2177	c.1835G>T	c.(1834-1836)gGg>gTg	p.G612V	GOLGA1_uc010mws.3_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	612						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						ATCCATGGCCCCAACCTCACC	0.512000													8	244					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102904421	102904421	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:102904421C>A	uc001ylw.2	+	9	2683	c.2457C>A	c.(2455-2457)tcC>tcA	p.S819S	TECPR2_uc010awl.3_Silent_p.S819S|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	819							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TGGTGGTCTCCGAGAAGTATA	0.587000											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	222					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48220176	48220176	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:48220176G>T	uc002phj.4	+	1	557	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W	EHD2_uc010xyu.2_Intron	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	103					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CGTCATGCACGGGGACACTGA	0.652000													4	81					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887375	9887375	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:9887375C>A	uc002koi.4	+	1	1348	c.899C>A	c.(898-900)cCc>cAc	p.P300H	TXNDC2_uc002koh.4_Missense_Mutation_p.P233H|TXNDC2_uc021ugx.1_Missense_Mutation_p.P233H	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	300	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				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						GGTGACCTCCCCAAGTCCCTA	0.597000													8	128					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84485599	84485599	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:84485599C>A	uc010chj.3	+	17	1822	c.1733C>A	c.(1732-1734)cCg>cAg	p.P578Q	ATP2C2_uc002fhx.3_Missense_Mutation_p.P578Q|ATP2C2_uc002fhy.3_Missense_Mutation_p.P595Q|ATP2C2_uc002fhz.3_Missense_Mutation_p.P427Q	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	578					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ATTGACCCCCCGAGAGTTGGC	0.617000													6	129					0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125559335	125559335	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:125559335G>T	uc011lim.1	+	2	474	c.389G>T	c.(388-390)aGg>aTg	p.R130M	NDUFB9_uc003yrg.4_Missense_Mutation_p.R130M	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.	130					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.R129W(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AAACTGCGGAGGGAAAGCTGG	0.473000													7	160					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072328	240072328	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:240072328G>T	uc021plc.1	+	0	1577	c.1577G>T	c.(1576-1578)tGg>tTg	p.W526L	CHRM3_uc001hyp.3_Missense_Mutation_p.W526L	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	526					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAAACCTTTTGGAATCTGGGC	0.483000													5	83					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149539324	149539324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:149539324C>A	uc010zbt.2	+	10	1859	c.1832C>A	c.(1831-1833)tCg>tAg	p.S611*		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	611	Gln-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CAGCATTCCTCGCAACAGACA	0.413000													5	110					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36718479	36718479	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:36718479G>T	uc003apg.3	-	5	931	c.700C>A	c.(700-702)Cgc>Agc	p.R234S	MYH9_uc003aph.1_Missense_Mutation_p.R98S	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	234	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCACGAAGCGGGAGGAGTTG	0.657000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				5	86					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101787171	101787171	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:101787171C>A	uc004azb.1	+	14	2076	c.1870C>A	c.(1870-1872)Cca>Aca	p.P624T		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	624	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCAGGACCCCCAGGGCCACC	0.507000													5	70					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113040	234113040	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:234113040C>A	uc010zmo.2	+	24	3310	c.3157C>A	c.(3157-3159)Cgg>Agg	p.R1053R	INPP5D_uc010zmp.2_Silent_p.R1052R	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1082	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCCCGCGCCCCGGCTGCGCTC	0.726000													3	16					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766823	77766823	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:77766823C>A	uc003yau.2	+	9	8053	c.7666C>A	c.(7666-7668)Ctc>Atc	p.L2556I	ZFHX4_uc003yaw.1_Missense_Mutation_p.L2511I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2511						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGCAGTTCCCTCACTCAAAT	0.502000										HNSCC(33;0.089)			5	96					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45810807	45810807	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:45810807C>A	uc001cns.1	-	10	1824	c.1421G>T	c.(1420-1422)cGg>cTg	p.R474L	TESK2_uc009vxr.1_Missense_Mutation_p.R445L|TESK2_uc010olo.1_Missense_Mutation_p.R391L|TESK2_uc009vxs.1_Missense_Mutation_p.R266L	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	474					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CGATTCTTCCCGGCCCACAAA	0.582000													5	133					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45271171	45271171	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:45271171G>T	uc001cmn.3	+	14	1862	c.1762G>T	c.(1762-1764)Ggg>Tgg	p.G588W	BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	588	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GAACTTCTACGGGGACCACAC	0.597000													6	268					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40946972	40946972	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40946972C>A	uc002ibj.3	+	13	2601	c.2533C>A	c.(2533-2535)Ccc>Acc	p.P845T	WNK4_uc010wgx.2_Missense_Mutation_p.P509T|WNK4_uc002ibk.1_Missense_Mutation_p.P617T	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	845					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCATTCTCCCCCATTTCTTC	0.582000													6	83					0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219136176	219136176	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:219136176C>A	uc002vhn.3	+	1	284	c.140C>A	c.(139-141)cCa>cAa	p.P47Q	AAMP_uc002vhk.3_5'Flank|AAMP_uc002vhl.3_5'Flank|PNKD_uc002vhm.2_Missense_Mutation_p.P47Q	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	47				P -> S (in Ref. 9; AAH36457).		membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAGCTCCCCAGAGGGCAAG	0.572000													5	91					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	517262	517262	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:517262C>A	uc003gak.4	+	8	1765	c.1629C>A	c.(1627-1629)ccC>ccA	p.P543P	PIGG_uc003gaj.4_Silent_p.P535P|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.P410P|PIGG_uc003gal.4_Silent_p.P454P	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	543					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CCATGCATCCCAGCTCAAGGT	0.547000													8	326					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8731970	8731970	+	Silent	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:8731970G>A	uc002glq.1	-	10	1467	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	409					platelet activation	cytosol											GCCGGGACACGCCGGGCAGCA	0.701000													5	29					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595197	44595197	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:44595197G>T	uc001clp.3	+	1	312	c.254G>T	c.(253-255)gGg>gTg	p.G85V	KLF17_uc009vxf.1_Missense_Mutation_p.G48V	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	85					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTGAATGAAGGGGGGCCACAG	0.557000													6	102					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103003420	103003420	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:103003420G>T	uc002tbw.4	+	7	1059	c.909G>T	c.(907-909)acG>acT	p.T303T	IL18R1_uc010ywd.2_Silent_p.T148T|IL18R1_uc010fiy.3_Silent_p.T303T|IL18R1_uc010ywc.2_Silent_p.T303T	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	303	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGGCCAGCACGGGAGGCACAG	0.378000													4	92					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310573	117310573	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:117310573C>A	uc001prh.1	-	21	4124	c.4122G>T	c.(4120-4122)gtG>gtT	p.V1374V		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1314	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGGATCTCCCACTGAATTGC	0.562000													7	183					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63631650	63631650	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:63631650C>A	uc002sch.3	-	9	1430	c.968G>T	c.(967-969)cGg>cTg	p.R323L	WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Missense_Mutation_p.R164L|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Missense_Mutation_p.R131L|WDPCP_uc002sci.2_Missense_Mutation_p.R299L|WDPCP_uc010fcr.1_Missense_Mutation_p.R213L	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	323					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GATTTTATTCCGAATGCATTC	0.473000													4	109					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074626	143074626	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:143074626C>A	uc003qjd.3	-	9	7702	c.6959G>T	c.(6958-6960)cGg>cTg	p.R2320L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTCCTGTTCCCGCTCTGTTGC	0.557000													6	112					0	0	1	0	0
GTPBP8	29083	broad.mit.edu	37	3	112710070	112710070	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112710070C>A	uc003dzn.3	+	0	271	c.224C>A	c.(223-225)cCg>cAg	p.P75Q	GTPBP8_uc003dzp.2_Non-coding_Transcript|GTPBP8_uc003dzo.3_Missense_Mutation_p.P75Q	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	Homo sapiens GTP-binding protein 8 (putative) (GTPBP8), transcript variant 1, mRNA.	75					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GACCCAAGCCCGGAGGACATA	0.622000													4	58					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42141469	42141469	+	Missense_Mutation	SNP	C	C	A	rs150710654	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:42141469C>A	uc003orx.3	+	2	763	c.118C>A	c.(118-120)Cgc>Agc	p.R40S	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Missense_Mutation_p.R40S	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	40	EF-hand 1.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTATGAGTTCCGCCAGTTCTT	0.562000													6	133					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241405654	241405654	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:241405654C>A	uc002vyw.4	+	8	1845	c.1624C>A	c.(1624-1626)Ctg>Atg	p.L542M		NM_002081	NP_002072	P35052	GPC1_HUMAN	Homo sapiens glypican 1 (GPC1), mRNA.	542					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GACCTTCCTCCTGCCCCTCCT	0.667000													5	67					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21092115	21092115	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:21092115C>A	uc002gyo.3	+	5	755	c.711C>A	c.(709-711)ccC>ccA	p.P237P		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.	237						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TCATCAGCCCCGGCTACATCC	0.517000													4	76					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524858	26524858	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:26524858C>A	uc010oez.2	+	5	760	c.760C>A	c.(760-762)Ctc>Atc	p.L254I	CATSPER4_uc010oey.1_Missense_Mutation_p.L76I|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	254					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.L254L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTACACCCTCTTCATCTG	0.527000													7	199					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2908722	2908722	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:2908722C>A	uc010ckd.3	+	14	1350	c.1260C>A	c.(1258-1260)ccC>ccA	p.P420P	RAP1GAP2_uc010cke.3_Silent_p.P405P	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	420	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAGTCCCCCCGTTTTCCAGA	0.562000													5	206					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893822	16893822	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:16893822delC	uc009vos.1	-	24	3579	c.2691delG	c.(2689-2691)gagfs	p.E897fs	NBPF1_uc009vot.1_Frame_Shift_Del_p.E355fs|NBPF1_uc001ayz.1_Frame_Shift_Del_p.E355fs|NBPF1_uc010oce.1_Frame_Shift_Del_p.E626fs	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	897	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGGCCCTTTCTCATCCAGCA	0.493													9	1785	---	---	---	---					
NT5DC3	51559	broad.mit.edu	37	12	104192373	104192374	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:104192373_104192374delAA	uc010swe.1	-	4	647_648	c.606_607delTT	c.(604-609)ttttacfs	p.F202fs		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	202							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ACCTTTCCGTAAAAGTCACTCA	0.441													8	89	---	---	---	---					
ZNF568	374900	broad.mit.edu	37	19	37440624	37440627	+	Frame_Shift_Del	DEL	ACTT	-	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:37440624_37440627delACTT	uc002ofc.3	+	6	1087_1090	c.569_572delACTT	c.(568-573)gacttafs	p.D190fs	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Frame_Shift_Del_p.D189fs|ZNF568_uc002ofd.3_Frame_Shift_Del_p.D126fs|ZNF568_uc010efe.3_Frame_Shift_Del_p.D126fs|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATAATTTAGACTTACTTAGATAT	0.363													34	93	---	---	---	---					
