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
CTNNBL1	56259	broad.mit.edu	37	20	36488410	36488410	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr20:36488410C>T	uc021wdj.1	+	13	1593	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	CTNNBL1_uc002xhh.3_Missense_Mutation_p.A314V|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.A249V	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	501					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TACATCATGGCCGAGATCTGC	0.587000													13	46					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38945049	38945049	+	Silent	SNP	T	T	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:38945049T>G	uc003jlo.2	-	35	4849	c.4827A>C	c.(4825-4827)tcA>tcC	p.S1609S	RICTOR_uc003jlp.2_Silent_p.S1585S|RICTOR_uc010ivf.2_Silent_p.S1262S	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1585					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGCTGCTAGCTGAGCCTTCTT	0.408000													39	140					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5011016	5011016	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr10:5011016C>T	uc001iho.3	+	9	1291	c.450C>T	c.(448-450)gcC>gcT	p.A150A	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Silent_p.A150A	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	150					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TTTCCCAGGCCGTGGAGAAGT	0.463000													3	73					0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	695199	695199	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:695199G>A	uc002frw.3	+	3	1259	c.1153G>A	c.(1153-1155)Ggt>Agt	p.G385S		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	385					RNA processing		RNA binding|RNA methyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CGTTGTGCCTGGTGTGGACAG	0.637000													3	54					0	0	1	0	0
NKIRAS1	28512	broad.mit.edu	37	3	23934708	23934708	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:23934708C>T	uc003ccj.3	-	4	859	c.457G>A	c.(457-459)Gat>Aat	p.D153N	NKIRAS1_uc003cck.3_Missense_Mutation_p.D153N	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.	153					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						GTTTTCCGATCTGTAACAGTC	0.443000													9	55					0	0	1	0	0
CDK2	1017	broad.mit.edu	37	12	56365358	56365358	+	Silent	SNP	T	T	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:56365358T>C	uc001sit.4	+	6	1083	c.846T>C	c.(844-846)gcT>gcC	p.A282A	CDK2_uc001siu.4_Silent_p.A248A|CDK2_uc010spy.2_Silent_p.A222A|RAB5B_uc001siv.3_5'Flank|RAB5B_uc001siw.3_5'Flank|RAB5B_uc010spz.2_5'Flank|RAB5B_uc009zog.3_5'Flank	NM_001798	NP_001789	P24941	CDK2_HUMAN	Homo sapiens cyclin-dependent kinase 2 (CDK2), transcript variant 1, mRNA.	282	Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|histone phosphorylation|mitosis|positive regulation of cell proliferation|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CAGCCCTGGCTCACCCTTTCT	0.527000													38	124					0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536465	90536465	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr9:90536465C>T	uc010mqi.3	+	3	1672	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	FAM75C1_uc004apq.4_Missense_Mutation_p.A531V	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GTTCTGGGGGCGACCTCTGAG	0.512000													18	90					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222301119	222301119	+	Splice_Site	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:222301119C>T	uc002vmq.3	-	13	2388	c.2346_splice	c.e13+1	p.R782_splice	EPHA4_uc002vmr.2_Splice_Site_p.R782_splice|EPHA4_uc010zlm.1_Splice_Site_p.R723_splice	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	782	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCTTTCTTACCCTGGTGGTGT	0.448000													3	46					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16842993	16842993	+	Silent	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:16842993G>A	uc002gqs.1	-	4	763	c.750C>T	c.(748-750)acC>acT	p.T250T	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Silent_p.T204T	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	250					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TGGGGTCGGGGGTCCCAGGCG	0.657000									IgA Deficiency, Selective				3	38					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70506485	70506485	+	Silent	SNP	A	A	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr16:70506485A>G	uc010cft.3	+	13	1537	c.1479A>G	c.(1477-1479)gaA>gaG	p.E493E	FUK_uc002eyy.3_Silent_p.E461E|FUK_uc002eyz.3_5'UTR	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	461						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGGAGTGAATTCTTCAAGA	0.607000													9	38					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242142854	242142854	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:242142854C>T	uc002wax.2	+	8	1095	c.992C>T	c.(991-993)cCc>cTc	p.P331L		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	331						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAGTACCAGCCCCTGGACCAC	0.687000													6	10					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298898	125298898	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:125298898C>T	uc004euk.2	-	0	1183	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	337								p.Q336*(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTTCTGCTGGCGCTGGCGCGG	0.622000													32	11					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189732	59189732	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:59189732G>T	uc010rkt.2	-	0	695	c.695C>A	c.(694-696)gCt>gAt	p.A232D		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCTACCTGTAGCTGAGCTGAT	0.483000													5	42					0	0	1	0	0
OTUD6B	51633	broad.mit.edu	37	8	92090653	92090653	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr8:92090653G>A	uc003yeu.4	+	3	574	c.475G>A	c.(475-477)Gga>Aga	p.G159R	OTUD6B_uc011lgh.2_Missense_Mutation_p.G28R	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	Homo sapiens OTU domain containing 6B (OTUD6B), mRNA.	129	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAACTTAACAGGAGCCAGACA	0.378000													2	8					0	0	1	0	0
MTRF1L	54516	broad.mit.edu	37	6	153319711	153319711	+	Missense_Mutation	SNP	T	T	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:153319711T>G	uc003qpi.4	-	1	418	c.313A>C	c.(313-315)Aaa>Caa	p.K105Q	MTRF1L_uc003qpl.4_Missense_Mutation_p.K105Q|MTRF1L_uc011efa.2_Missense_Mutation_p.K105Q|MTRF1L_uc003qpk.4_Missense_Mutation_p.K105Q|MTRF1L_uc003qpj.4_5'UTR	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	Homo sapiens mitochondrial translational release factor 1-like (MTRF1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	105						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GTTATTTCTTTTTGACACAAA	0.303000													3	40					0	0	1	0	0
C2CD4B	388125	broad.mit.edu	37	15	62457107	62457107	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:62457107G>C	uc002ahg.2	-	1	206	c.77C>G	c.(76-78)aCg>aGg	p.T26R	C2CD4B_uc021snm.1_Missense_Mutation_p.T26R	NM_001007595	NP_001007596	A6NLJ0	C2C4B_HUMAN	Homo sapiens C2 calcium-dependent domain containing 4B (C2CD4B), mRNA.	26						nucleus				skin(1)	1						GCGATTCGGCGTGAGCACTTT	0.706000													2	5					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179402560	179402560	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:179402560A>G	uc021vsy.1	-	303	91895	c.91670T>C	c.(91669-91671)gTt>gCt	p.V30557A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V24252A|TTN_uc021vta.1_Missense_Mutation_p.V24185A|TTN_uc021vtb.1_Missense_Mutation_p.V24060A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31484							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)			AGGCCTTCCAACAATCTGGCA	0.433000													7	24					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179023637	179023637	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:179023637G>A	uc003mka.1	+	12	1586	c.1586G>A	c.(1585-1587)aGg>aAg	p.R529K	RUFY1_uc003mkb.1_Missense_Mutation_p.R421K|RUFY1_uc003mkc.1_Missense_Mutation_p.R421K|RUFY1_uc003mkd.1_Missense_Mutation_p.R131K	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	529					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGCGGGAGGATCGGCGCC	0.687000										HNSCC(44;0.11)			3	111					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976783	38976783	+	Missense_Mutation	SNP	G	G	A	rs147603571		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:38976783G>A	uc002oit.3	+	33	5618	c.5488G>A	c.(5488-5490)Gtc>Atc	p.V1830I	RYR1_uc002oiu.3_Missense_Mutation_p.V1830I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1830	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCGCGACCCCGTCGGGGGCTC	0.667000													5	190					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9364983	9364983	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr20:9364983C>T	uc021wam.1	+	10	1004	c.989C>T	c.(988-990)aCt>aTt	p.T330I	PLCB4_uc010gbw.1_Missense_Mutation_p.T330I|PLCB4_uc010gbx.3_Missense_Mutation_p.T330I|PLCB4_uc021wal.1_Missense_Mutation_p.T330I|PLCB4_uc002wnh.3_Missense_Mutation_p.T177I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	330	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCCCATAACACTTATCTCACT	0.468000													19	75					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262078	39262078	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:39262078G>T	uc010wfp.2	+	0	438	c.438G>T	c.(436-438)caG>caT	p.Q146H		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	146	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgtgctgccagcccaactgct	0.667000													4	28					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216259362	216259362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:216259362G>A	uc002vfa.3	-	23	3951	c.3685C>T	c.(3685-3687)Cag>Tag	p.Q1229*	FN1_uc002vfc.3_Nonsense_Mutation_p.Q1229*|FN1_uc002vfe.3_Nonsense_Mutation_p.Q1229*|FN1_uc002vff.3_Nonsense_Mutation_p.Q1229*|FN1_uc002vfg.3_Nonsense_Mutation_p.Q1229*|FN1_uc002vfh.3_Nonsense_Mutation_p.Q1229*|FN1_uc002vfi.3_Nonsense_Mutation_p.Q1229*|FN1_uc002vfj.3_Nonsense_Mutation_p.Q1229*|FN1_uc002vfb.3_Nonsense_Mutation_p.Q1229*|FN1_uc002vez.3_5'Flank|FN1_uc010zjp.2_5'Flank	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1229	Fibronectin type-III 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGAGCTCTGATCAGCATGG	0.453000													6	144					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97194208	97194208	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:97194208C>G	uc010how.1	+	7	1950	c.1907C>G	c.(1906-1908)gCa>gGa	p.A636G	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.A2G|EPHA6_uc003drs.4_Missense_Mutation_p.A28G|EPHA6_uc003drr.4_Missense_Mutation_p.A28G|EPHA6_uc003drt.3_Missense_Mutation_p.A28G|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	541	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGACATGGCAGCAGAACAA	0.403000													3	34					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77225016	77225016	+	Silent	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:77225016G>A	uc004ecy.1	-	0	120	c.120C>T	c.(118-120)cgC>cgT	p.R40R	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.4_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA.	40			R -> C.		glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CCTGCCCGCCGCGCTTCGCCT	0.627000													7	79					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045693	26045693	+	Missense_Mutation	SNP	A	A	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:26045693A>C	uc003nfv.3	+	0	55	c.55A>C	c.(55-57)Aag>Cag	p.K19Q	HIST1H2BB_uc003nfu.3_5'Flank	NM_003531	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA.	19					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AGCTCCGCGCAAGCAGCTTGC	0.577000													7	60					0	0	1	0	0
RDM1	201299	broad.mit.edu	37	17	34247216	34247216	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:34247216T>C	uc002hkh.3	-	5	777	c.728A>G	c.(727-729)gAa>gGa	p.E243G	RDM1_uc010cty.3_Non-coding_Transcript|RDM1_uc010ctz.3_Intron|RDM1_uc010cua.3_Missense_Mutation_p.E220G|RDM1_uc002hkg.4_Missense_Mutation_p.E187G|RDM1_uc010cub.3_Non-coding_Transcript|RDM1_uc010cuf.3_Non-coding_Transcript|RDM1_uc010cue.3_Non-coding_Transcript|RDM1_uc010cug.3_Non-coding_Transcript|RDM1_uc010cuc.3_Intron|RDM1_uc010cud.3_Missense_Mutation_p.E210G	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	Homo sapiens RAD52 motif 1 (RDM1), transcript variant 1, mRNA.	243					DNA recombination|DNA repair	Cajal body|PML body|cytoplasm|nucleolus	DNA binding|RNA binding|nucleotide binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAGTTCTTCTTCGCATCTGAC	0.373000								Other identified genes with known or suspected DNA repair function					7	89					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	80022520	80022520	+	Silent	SNP	C	C	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr9:80022520C>A	uc004akr.3	+	70	9731	c.9471C>A	c.(9469-9471)gcC>gcA	p.A3157A	VPS13A_uc004aks.3_Silent_p.A3118A	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	3157					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAGGATGCCAGGGtaaata	0.318000													3	31					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100533254	100533254	+	Splice_Site	SNP	G	G	A	rs142633005		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:100533254G>A	uc002bvv.1	-	20	3028	c.2949_splice	c.e20+1	p.T983_splice		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	983	TSP type-1 5.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGCTCTCACCGTAGACCAGTC	0.617000													3	57					0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71264232	71264232	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr10:71264232C>T	uc001jpo.1	+	5	734	c.609C>T	c.(607-609)atC>atT	p.I203I		NM_012339	NP_036471	O95858	TSN15_HUMAN	Homo sapiens tetraspanin 15 (TSPAN15), mRNA.	203						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						ACAAAACTATCGACAAGGAGG	0.423000													22	91					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7802204	7802204	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:7802204G>A	uc001qtb.3	-	4	684	c.650C>T	c.(649-651)aCg>aTg	p.T217M	APOBEC1_uc001qtc.3_Missense_Mutation_p.T172M	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	217					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGGCGGAATCGTTTGGTAATG	0.398000													4	89					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34129958	34129958	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:34129958A>G	uc001zhi.3	+	88	11847	c.11777A>G	c.(11776-11778)gAc>gGc	p.D3926G	RYR3_uc010bar.3_Missense_Mutation_p.D3921G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3926	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCAGCTCAGACACCTTCAAA	0.383000													3	16					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193082053	193082053	+	Missense_Mutation	SNP	C	C	T	rs78621247		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:193082053C>T	uc011bsq.2	-	1	80	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	27					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.R27L(2)|p.R27Q(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTGTGGTCCCGGTAACCAAA	0.443000													8	181					0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186329110	186329110	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr4:186329110C>T	uc003ixo.2	-	8	1218	c.1101G>A	c.(1099-1101)acG>acA	p.T367T	UFSP2_uc003ixq.2_Silent_p.T257T	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	367						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTTTGACGTTATACCGA	0.373000													3	55					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199080	155199080	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:155199080G>A	uc021xge.1	-	22	5036	c.4759C>T	c.(4759-4761)Cgc>Tgc	p.R1587C	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.R1549C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1587					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCAATATTGCGCACTCTGCTC	0.512000													9	123					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114214649	114214649	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr4:114214649C>T	uc003ibe.4	+	21	2530	c.2430C>T	c.(2428-2430)gtC>gtT	p.V810V	ANK2_uc003ibd.4_Silent_p.V789V|ANK2_uc003ibf.4_Silent_p.V810V|ANK2_uc011cgc.2_Silent_p.V19V|ANK2_uc003ibc.2_Silent_p.V786V|ANK2_uc011cgb.1_Silent_p.V825V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	810					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTCCGTGGTCGACACCCTGA	0.488000													7	72					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118533574	118533574	+	Silent	SNP	C	C	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:118533574C>A	uc010jcl.1	+	31	7849	c.7668C>A	c.(7666-7668)acC>acA	p.T2556T	DMXL1_uc003ksd.2_Silent_p.T2556T|DMXL1_uc021ycw.1_Silent_p.T2383T	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2556										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAGTCATACCGCCGAAGAGA	0.433000													3	140					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044488	75044488	+	Missense_Mutation	SNP	C	C	T	rs147333000	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:75044488C>T	uc002ayr.1	+	4	1130	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	356					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CAGGGAGCGGCGGCCCCGGCT	0.592000													26	89					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204409361	204409361	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:204409361C>T	uc001haw.3	-	22	3817	c.3338G>A	c.(3337-3339)cGc>cAc	p.R1113H	PIK3C2B_uc010pqv.2_Missense_Mutation_p.R1085H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1113	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GATGACCATGCGCATGTCCAG	0.602000													4	161					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27599549	27599549	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:27599549A>G	uc002rkg.1	+	14	1598	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S	SNX17_uc010ylj.1_Missense_Mutation_p.N439S|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Missense_Mutation_p.N245S|SNX17_uc010yll.1_Missense_Mutation_p.N245S|SNX17_uc010ylm.1_Missense_Mutation_p.N245S|SNX17_uc010yln.1_Missense_Mutation_p.N447S|SNX17_uc010ylo.1_Missense_Mutation_p.N377S|SNX17_uc010ylp.1_Missense_Mutation_p.N434S|SNX17_uc010ylk.1_Missense_Mutation_p.N245S|SNX17_uc010eza.1_Missense_Mutation_p.N245S|SNX17_uc010ylq.1_Missense_Mutation_p.N245S	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	459					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCACGGCAATTTCGCCTTC	0.547000													11	47					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6731108	6731108	+	Silent	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:6731108G>A	uc002mfp.3	-	16	1495	c.1449C>T	c.(1447-1449)ggC>ggT	p.G483G	GPR108_uc010duv.3_Silent_p.G34G	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	483						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCAGGGTGGAGCCCTCCACCA	0.692000													3	45					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34923961	34923961	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr21:34923961C>T	uc002yse.1	+	2	2473	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	SON_uc002ysb.1_Silent_p.T808T|SON_uc002ysc.3_Silent_p.T808T|SON_uc002ysd.3_Intron|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.T454T|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	808	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.T808T(3)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.512000													4	190					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76463690	76463690	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr8:76463690C>T	uc003yaq.3	+	4	579	c.309C>T	c.(307-309)tcC>tcT	p.S103S	HNF4G_uc003yar.3_Silent_p.S140S	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	103					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACATCCCCTCCATTAACACAC	0.448000													7	64					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46760120	46760120	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr22:46760120C>T	uc003bhw.1	-	33	8808	c.8808G>A	c.(8806-8808)ccG>ccA	p.P2936P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2936					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCAGCGGCGGCGGGTAGGTGA	0.657000													7	91					0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43484884	43484884	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:43484884C>G	uc003ovn.3	+	0	108	c.37C>G	c.(37-39)Cgc>Ggc	p.R13G	YIPF3_uc003ovl.2_5'Flank|YIPF3_uc011dvk.2_5'Flank|POLR1C_uc003ovo.2_Missense_Mutation_p.R13G	NM_203290	NP_976035	O15160	RPAC1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide C, 30kDa (POLR1C), mRNA.	13					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			AATGCGGAGCCGCGTGGTTCT	0.597000													7	121					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406691	148406691	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:148406691C>A	uc003lpu.3	-	10	2756	c.2604G>T	c.(2602-2604)gaG>gaT	p.E868D	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.E512D|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.E415D|SH3TC2_uc010jgx.3_Missense_Mutation_p.E861D|SH3TC2_uc003lpv.1_Missense_Mutation_p.E415D|SH3TC2_uc011dbz.1_Missense_Mutation_p.E753D	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	868							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCCCACCTCCTGGGCTC	0.572000													5	184					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917842	2917842	+	Missense_Mutation	SNP	G	G	A	rs149690257	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:2917842G>A	uc002lwr.3	+	3	1371	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ZNF57_uc010xha.2_Missense_Mutation_p.R376Q	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCATTCCGAGGTCATTTG	0.428000													3	78					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62902191	62902191	+	Silent	SNP	A	A	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:62902191A>G	uc001sre.3	+	7	1306	c.915A>G	c.(913-915)ccA>ccG	p.P305P	MON2_uc010ssn.2_Silent_p.P305P|MON2_uc009zqj.3_Silent_p.P305P|MON2_uc010ssl.2_Silent_p.P233P|MON2_uc010ssm.2_Silent_p.P305P|MON2_uc001srf.3_Silent_p.P68P|MON2_uc001srd.1_Silent_p.P197P	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	305					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGAAAAACCATATTTTCCTA	0.373000													37	80					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133914	119133914	+	Silent	SNP	A	A	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:119133914A>C	uc003ecj.4	+	11	3670	c.3138A>C	c.(3136-3138)ctA>ctC	p.L1046L		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	1046					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAAAGGAGCTAGGGACACACC	0.592000													35	112					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110882266	110882266	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:110882266G>A	uc001dzl.1	+	0	322	c.239G>A	c.(238-240)aGc>aAc	p.S80N	RBM15_uc001dzm.1_Missense_Mutation_p.S80N|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.S80N	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	80	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCTGGTGGCAGCAATGGGAGC	0.637000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	54					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9323958	9323958	+	Missense_Mutation	SNP	G	G	A	rs113495544	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:9323958G>A	uc001apt.3	+	4	1679	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	469	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TTCCATGGCCGGAAGAATTTC	0.597000													4	123					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105641939	105641939	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr7:105641939C>T	uc003vdl.4	+	6	853	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	CDHR3_uc003vdk.3_Intron|CDHR3_uc011kls.1_Non-coding_Transcript|CDHR3_uc003vdm.4_Silent_p.L236L|CDHR3_uc011klt.2_Silent_p.L161L|CDHR3_uc003vdn.3_5'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	249	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTGGAGGAACTGAGTCCAGG	0.517000													5	97					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:152082320T>C	uc009wne.1	-	2	3645	c.3373A>G	c.(3373-3375)Aga>Gga	p.R1125G	TCHH_uc001ezp.2_Missense_Mutation_p.R1125G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1125	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctctcagcagctgc	0.612000													4	109					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531778	92531778	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:92531778G>A	uc001pdj.4	+	8	5616	c.5599G>A	c.(5599-5601)Gtt>Att	p.V1867I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1867	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGAGTCCCGTTGAAGTCAA	0.453000										TCGA Ovarian(4;0.039)			6	30					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380678	3380678	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:3380678C>T	uc001lxt.3	-	5	1742	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	ZNF195_uc010qxr.2_Silent_p.K501K|ZNF195_uc009ydz.3_Silent_p.K475K|ZNF195_uc001lxu.3_Silent_p.K452K|ZNF195_uc001lxv.3_Silent_p.K497K|ZNF195_uc021qck.1_Silent_p.K452K|ZNF195_uc001lxs.3_Silent_p.K448K	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S519P(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403000													6	173					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23559257	23559257	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr14:23559257G>C	uc001wit.4	-	3	872	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	ACIN1_uc010akg.3_Missense_Mutation_p.L182V|ACIN1_uc010tnj.2_Intron	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	182	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGAGGCAGCAGGGAAGCCACT	0.582000													3	23					0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124623669	124623669	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:124623669G>A	uc001qav.4	-	6	1219	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Missense_Mutation_p.T276M|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	349					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CCCATCTGTCGTGGGCAGTCT	0.667000													16	74					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225591013	225591013	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:225591013T>C	uc001hoy.3	-	13	2014	c.1840A>G	c.(1840-1842)Atc>Gtc	p.I614V	LBR_uc001hoz.3_Missense_Mutation_p.I614V	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	614					cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CATTAGTAGATGTATGGAAAT	0.433000													9	112					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92671666	92671666	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:92671666G>A	uc002bqx.2	+	6	1660	c.1459G>A	c.(1459-1461)Ggg>Agg	p.G487R	SLCO3A1_uc002bqy.2_Missense_Mutation_p.G487R|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.G429R	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	487	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCCAGTGTGTGGGGCAGATGG	0.562000													3	150					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140729950	140729950	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:140729950C>T	uc003ljo.2	+	0	123	c.123C>T	c.(121-123)aaC>aaT	p.N41N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.N41N	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	41	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTAGCCAACGGCTCACGGG	0.522000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	20					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	T	G			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr7:57187809T>G	uc010kzo.3	-	4	1584	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453000													4	73					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67205385	67205385	+	Silent	SNP	C	C	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr13:67205385C>T	uc001vik.3	-	3	3989	c.3297G>A	c.(3295-3297)ccG>ccA	p.P1099P	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Silent_p.P1065P|PCDH9_uc010thl.2_Silent_p.P1057P|U7_uc021rkh.1_5'Flank	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1099					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCCTCTTGTCCGGAGAGGCCT	0.512000													7	116					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91406039	91406040	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:91406039_91406040insT	uc001dnw.3	-	2	1154_1155	c.871_872insA	c.(871-873)agafs	p.R291fs	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Frame_Shift_Ins_p.R291fs	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCGCTTTCTTTTTTTTTCT	0.337													7	54	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:183515266_183515267insA	uc001gqg.3	+	16	2786_2787	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_uc010pob.2_Frame_Shift_Ins_p.E829fs|SMG7_uc021pga.1_Frame_Shift_Ins_p.E758fs|SMG7_uc001gqf.3_Frame_Shift_Ins_p.E800fs|SMG7_uc001gqh.3_Frame_Shift_Ins_p.E800fs|SMG7_uc010poc.2_Frame_Shift_Ins_p.E804fs	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	846					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.450													7	67	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98382597	98382597	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:98382597delG	uc002syh.4	-	34	4932	c.4703delC	c.(4702-4704)ccafs	p.P1568fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1568						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTTGTGAACTGGAACGGAATC	0.512													20	49	---	---	---	---					
C2orf82	389084	broad.mit.edu	37	2	233740763	233740763	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:233740763delC	uc002vtr.1	+	1	245	c.187delC	c.(187-189)cccfs	p.P63fs		NM_206895	NP_996778	Q6UX34	CB082_HUMAN	Homo sapiens chromosome 2 open reading frame 82 (C2orf82), mRNA.	63						integral to membrane											GGACACCGGTCCCCCAGCCCC	0.781													2	4	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283605	43283606	+	RNA	INS	-	A	A			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:43283605_43283606insA	uc001mxe.1	-	1		c.1330_1331insT								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		GAAGCAAATGTAAAAAAAAAAA	0.386													3	6	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48204803	48204805	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:48204803_48204805delTCC	uc002phh.4	+	14	4008_4010	c.3814_3816delTCC	c.(3814-3816)tccdel	p.S1276del	GLTSCR1_uc002phi.4_In_Frame_Del_p.S1034del	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	1276	Poly-Ser.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		gtcctcctcttcctcctcctcct	0.719													2	4	---	---	---	---					
