Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MARS	4141	broad.mit.edu	37	12	57891971	57891971	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:57891971A>C	uc001sog.3	+	7	956	c.802A>C	c.(802-804)Atc>Ctc	p.I268L	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Missense_Mutation_p.I141L|MARS_uc010srq.1_Missense_Mutation_p.I34L	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	268					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)	GAATGTGCTCATCACCAGTGC	0.537000														54			25		0	0	0.003330	0	0
PCF11	51585	broad.mit.edu	37	11	82878314	82878314	+	Missense_Mutation	SNP	G	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:82878314G>C	uc001ozx.4	+	5	2310	c.1965G>C	c.(1963-1965)gaG>gaC	p.E655D	PCF11_uc010rsu.1_Missense_Mutation_p.E655D	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	655					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTCCTAAAGAGTTAACTCTTG	0.368000														58			17		0	0	0.004990	0	0
RPS10-NUDT3	100529239	broad.mit.edu	37	6	34309651	34309651	+	Missense_Mutation	SNP	T	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:34309651T>G	uc003ojl.3	-	1	516	c.198A>C	c.(196-198)gaA>gaC	p.E66D	RPS10-NUDT3_uc021yyt.1_Missense_Mutation_p.E185D	NM_006703	NP_006694			Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 3 (NUDT3), mRNA.																		CCTCACAGACTTCACGAACTG	0.532000														39			10		0	0	0.008291	0	0
FBXO24	26261	broad.mit.edu	37	7	100187679	100187679	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr7:100187679A>C	uc011kjz.1	+	1	301	c.233A>C	c.(232-234)cAg>cCg	p.Q78P	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.Q40P|FBXO24_uc003uvm.1_Missense_Mutation_p.Q40P|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.Q28P	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	40	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATTTCCATCCAGTTGTTCCCC	0.557000														90			48		0	0	0.013114	0	0
LRRC52	440699	broad.mit.edu	37	1	165514059	165514059	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr1:165514059C>G	uc001gde.2	+	0	582	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	176						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCTCACTACTCTGGAGACCCT	0.512000														124			46		0	0	0.011902	0	0
ERBB4	2066	broad.mit.edu	37	2	212295693	212295693	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:212295693C>A	uc002veg.1	-	20	2718	c.2620G>T	c.(2620-2622)Gag>Tag	p.E874*	ERBB4_uc002veh.1_Nonsense_Mutation_p.E874*|ERBB4_uc010zji.1_Nonsense_Mutation_p.E864*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.E864*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	874	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCATTGTACTCTTTTTCATCT	0.373000										TSP Lung(8;0.080)				112			46		5.34276e-22	6.1614e-22	0.003610	1	0
CLASP2	23122	broad.mit.edu	37	3	33552091	33552091	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:33552091G>T	uc021wvc.1	-	36	4511	c.4300C>A	c.(4300-4302)Cta>Ata	p.L1434I	CLASP2_uc003cfs.3_Missense_Mutation_p.L633I|CLASP2_uc021wva.1_Missense_Mutation_p.L508I|CLASP2_uc021wvb.1_Missense_Mutation_p.L1213I	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1435										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGCAGGTTTAGGGTTTCCTTG	0.393000														50			11		7.03913e-09	7.80306e-09	0.001368	1	0
IMMT	10989	broad.mit.edu	37	2	86371396	86371396	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:86371396C>G	uc002sqz.4	-	14	2660	c.2272G>C	c.(2272-2274)Gag>Cag	p.E758Q	IMMT_uc002sqy.4_Missense_Mutation_p.E499Q|IMMT_uc010yte.2_Missense_Mutation_p.E711Q|IMMT_uc002srb.4_Missense_Mutation_p.E747Q|IMMT_uc002sra.4_Missense_Mutation_p.E757Q|IMMT_uc010ytd.2_Missense_Mutation_p.E746Q	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	758				E -> D (in Ref. 3; CAG33074).		integral to mitochondrial inner membrane	protein binding	p.E758Q(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAACCTCACTCTGGCTGCACC	0.473000														38			16		0	0	0.008871	0	0
SSPO	23145	broad.mit.edu	37	7	149509420	149509420	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr7:149509420G>A	uc010lpk.3	+	68	9809	c.9809G>A	c.(9808-9810)cGg>cAg	p.R3270Q		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3273	TSP type-1 12.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGGCCTGCGGAGCCGGACC	0.726000														11			4		0	0	0.009096	0	0
OR51A7	119687	broad.mit.edu	37	11	4929158	4929158	+	Silent	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:4929158C>T	uc010qyq.2	+	0	559	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACCATGAAGCTGGCCTGCTC	0.398000														92			40		0	0	0.011902	0	0
LAMB2	3913	broad.mit.edu	37	3	49159166	49159166	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:49159166G>A	uc003cwe.3	-	29	5350	c.5051C>T	c.(5050-5052)gCa>gTa	p.A1684V	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1684	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGTTTCTTCTGCTGTAGAGGC	0.607000														70			31		0	0	0.004289	0	0
DIEXF	27042	broad.mit.edu	37	1	210015618	210015618	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr1:210015618G>A	uc001hhr.2	+	8	1591	c.1494G>A	c.(1492-1494)atG>atA	p.M498I	DIEXF_uc009xcu.2_Missense_Mutation_p.M213I	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	498					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AGCATTTGATGAATCACATGA	0.418000														42			14		0	0	0.002450	0	0
TBC1D9	23158	broad.mit.edu	37	4	141560501	141560501	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr4:141560501T>C	uc010ioj.3	-	13	2691	c.2419A>G	c.(2419-2421)Act>Gct	p.T807A		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	807						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGTTTCGTAGTATCCTCCAGC	0.458000														13			4		0	0	0.009096	0	0
TMEM161B	153396	broad.mit.edu	37	5	87521633	87521633	+	Missense_Mutation	SNP	A	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr5:87521633A>G	uc003kjc.3	-	3	367	c.242T>C	c.(241-243)aTt>aCt	p.I81T	TMEM161B_uc011cty.2_Missense_Mutation_p.I70T|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_5'UTR	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	81						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		ATGAAGGTCAATATCCTTTGG	0.299000														90			26		0	0	0.006320	0	0
SUPT16H	11198	broad.mit.edu	37	14	21821861	21821861	+	Splice_Site	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:21821861C>T	uc001wao.2	-	24	3259	c.2920_splice	c.e24+1	p.D974_splice	SUPT16H_uc001wan.2_Splice_Site_p.D118_splice	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	974	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GTAAGACTAACCTGACTCTTC	0.378000														95			27		0	0	0.010818	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27503082	27503082	+	Nonstop_Mutation	SNP	A	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:27503082A>T	uc002rjl.1	+	5	987	c.569A>T	c.(568-570)tAa>tTa	p.*190L	TRIM54_uc002rjn.3_5'Flank|TRIM54_uc002rjo.3_5'Flank|DNAJC5G_uc010yli.1_Nonsense_Mutation_p.K103*|DNAJC5G_uc002rjm.1_Nonstop_Mutation_p.*190L	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA.	0					protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGATTTTTAAGAGATGAAG	0.333000											OREG0014517	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		121			58		0	0	0.003610	0	0
ZNF184	7738	broad.mit.edu	37	6	27420017	27420017	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:27420017T>C	uc003njj.3	-	4	2132	c.1321A>G	c.(1321-1323)Act>Gct	p.T441A	ZNF184_uc010jqv.3_Missense_Mutation_p.T441A|ZNF184_uc003nji.3_Missense_Mutation_p.T441A	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T441T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCTCCCCAGTATGAGTTTTT	0.403000														91			44		0	0	0.010771	0	0
SPNS1	83985	broad.mit.edu	37	16	28989282	28989282	+	Missense_Mutation	SNP	A	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr16:28989282A>G	uc010vdi.1	+	3	501	c.361A>G	c.(361-363)Agg>Ggg	p.R121G	NPIPL1_uc010vct.2_Intron|SPNS1_uc002dry.2_Missense_Mutation_p.R121G|SPNS1_uc002drx.2_Missense_Mutation_p.R48G|SPNS1_uc002dsa.2_Missense_Mutation_p.R121G|SPNS1_uc002drz.2_Missense_Mutation_p.R121G|SPNS1_uc010byp.2_Missense_Mutation_p.R99G	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	121					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCTGGGTGACAGGTACAATCG	0.577000											OREG0023711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			69		0	0	0.003610	0	0
GLRX3	10539	broad.mit.edu	37	10	131964822	131964822	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:131964822G>T	uc001lkn.2	+	4	576	c.530G>T	c.(529-531)aGc>aTc	p.S177I	GLRX3_uc001lkm.2_Missense_Mutation_p.S177I|GLRX3_uc001lko.3_Non-coding_Transcript|GLRX3_uc021qay.1_Missense_Mutation_p.S31I	NM_001199868	NP_001186797	O76003	GLRX3_HUMAN	Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 1, mRNA.	177	Glutaredoxin 1.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		ATTCAGTTTAGCAGTTTTGAT	0.393000														84			27		9.39395e-14	1.06614e-13	0.006320	1	0
SCIN	85477	broad.mit.edu	37	7	12679988	12679988	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr7:12679988G>A	uc003ssn.4	+	10	1637	c.1427G>A	c.(1426-1428)gGc>gAc	p.G476D	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.G229D	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	476	Ca(2+)-dependent actin binding.			G -> D (in Ref. 1; AAK60494).	actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.Q475*(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GTCTCCCAAGGCAAAGAGCCT	0.428000														45			30		0	0	0.012213	0	0
ARPC2	10109	broad.mit.edu	37	2	219103554	219103554	+	Missense_Mutation	SNP	T	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:219103554T>A	uc002vhd.3	+	5	548	c.436T>A	c.(436-438)Tat>Aat	p.Y146N	ARPC2_uc002vhe.3_Missense_Mutation_p.Y146N|ARPC2_uc002vhf.3_Missense_Mutation_p.Y32N	NM_152862	NP_690601	O15144	ARPC2_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 2, 34kDa (ARPC2), transcript variant 1, mRNA.	146					cellular component movement	Arp2/3 protein complex|Golgi apparatus|cell projection	actin binding|structural constituent of cytoskeleton	p.H145R(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AGTTATCCATTATAGGGATGA	0.438000														65			27		0	0	0.007291	0	0
LY9	4063	broad.mit.edu	37	1	160783509	160783509	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr1:160783509G>A	uc001fwu.3	+	2	588	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	LY9_uc010pjs.1_Missense_Mutation_p.V180M|LY9_uc001fwv.3_Missense_Mutation_p.V180M|LY9_uc001fww.3_Missense_Mutation_p.V180M|LY9_uc001fwy.1_Missense_Mutation_p.V82M|LY9_uc001fwz.3_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	180	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AATGTGCTCCGTGAAGGGGGC	0.537000														116			5		0	0	0.000602	0	0
F2	2147	broad.mit.edu	37	11	46740795	46740795	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:46740795G>A	uc001ndf.4	+	0	53	c.10G>A	c.(10-12)Gtc>Atc	p.V4I		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	4					STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TATGGCGCACGTCCGAGGCTT	0.577000														26			12		0	0	0.010729	0	0
DCP1B	196513	broad.mit.edu	37	12	2064679	2064679	+	Missense_Mutation	SNP	G	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:2064679G>C	uc001qjx.1	-	5	650	c.570C>G	c.(568-570)atC>atG	p.I190M	DCP1B_uc010sdy.1_Missense_Mutation_p.I88M	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	190					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GATTGTCATAGATGGCAGAGG	0.413000														123			61		0	0	0.003610	0	0
FLCN	201163	broad.mit.edu	37	17	17119717	17119717	+	Missense_Mutation	SNP	A	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr17:17119717A>G	uc002gra.4	-	10	1781	c.1277T>C	c.(1276-1278)aTc>aCc	p.I426T	PLD6_uc010cpn.3_Non-coding_Transcript	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	426					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGGGGGGGATCTGCACGTG	0.667000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					32			4		0	0	0.001168	0	0
PHF2	5253	broad.mit.edu	37	9	96416716	96416716	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:96416716A>C	uc004aub.3	+	6	958	c.811A>C	c.(811-813)Atc>Ctc	p.I271L	PHF2_uc011lug.1_Missense_Mutation_p.I154L	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	271	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CTTCTATCTCATCAGGCCGGC	0.587000														38			15		0	0	0.003163	0	0
GALNT10	55568	broad.mit.edu	37	5	153755873	153755873	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr5:153755873T>C	uc003lvh.3	+	4	737	c.605T>C	c.(604-606)cTt>cCt	p.L202P	GALNT10_uc003lvg.1_Missense_Mutation_p.L202P|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	202	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TACATGGCCCTTTTCCCCAGT	0.502000														163			3		0	0	0.009096	0	0
RGNEF	64283	broad.mit.edu	37	5	73161823	73161823	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr5:73161823C>T	uc010izf.3	+	17	2313	c.2137C>T	c.(2137-2139)Cag>Tag	p.Q713*	RGNEF_uc011csq.2_Nonsense_Mutation_p.Q713*|RGNEF_uc021yam.1_Nonsense_Mutation_p.Q713*|RGNEF_uc011csr.2_Nonsense_Mutation_p.Q400*	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	713					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GAACAAACCACAGACCATCCT	0.269000														21			3		0	0	0.009096	0	0
TTC35	9694	broad.mit.edu	37	8	109462688	109462688	+	Silent	SNP	A	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr8:109462688A>T	uc003ymw.1	+	2	221	c.186A>T	c.(184-186)gcA>gcT	p.A62A		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	62						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			TGATGATTGCAGCACTAGACT	0.308000														96			27		0	0	0.009535	0	0
POTEE	445582	broad.mit.edu	37	2	132020929	132020929	+	Splice_Site	SNP	T	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:132020929T>G	uc002tsn.2	+	15	1952	c.1900_splice	c.e15-1	p.L634_splice	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Splice_Site_p.L234_splice|POTEE_uc002tsl.2_Splice_Site_p.L216_splice|POTEE_uc010fmy.1_Splice_Site_p.L98_splice	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	634							ATP binding										TTTACTTAGCTTTCTCTTAGT	0.318000														20			6		0	0	0.001168	0	0
MIS18A	54069	broad.mit.edu	37	21	33651272	33651272	+	Silent	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr21:33651272C>T	uc002ypi.3	-	0	105	c.54G>A	c.(52-54)gaG>gaA	p.E18E		NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	Homo sapiens MIS18 kinetochore protein homolog A (S. pombe) (MIS18A), mRNA.	18					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TGTCGCCGCACTCACAGCCGC	0.607000														38			13		0	0	0.003163	0	0
TPP1	1200	broad.mit.edu	37	11	6640045	6640045	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:6640045A>C	uc001mel.1	-	2	252	c.191T>G	c.(190-192)cTg>cGg	p.L64R	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Missense_Mutation_p.L64R	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	64					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AGCCTGCACCAGCTCCGAGAG	0.622000														52			22		0	0	0.002299	0	0
FAM75D1	389763	broad.mit.edu	37	9	84605892	84605892	+	Silent	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:84605892G>A	uc004amn.3	+	3	554	c.507G>A	c.(505-507)tcG>tcA	p.S169S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	169						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CTGAGTCATCGTTCACTCTGG	0.562000														43			16		0	0	0.004990	0	0
NUP188	23511	broad.mit.edu	37	9	131755475	131755475	+	Splice_Site	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:131755475G>A	uc004bws.1	+	26	2663	c.2641_splice	c.e26-1	p.V881_splice	NUP188_uc004bwu.3_Splice_Site_p.V224_splice	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	881					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTCTCCACCAGGTGGCCCCAA	0.537000											OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			18		0	0	0.010504	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91961	91961	+	RNA	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chrGL000211.1:91961C>T	uc003bnz.1	+	6		c.1317C>T			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTATAGATTTCCATTATTGTC	0.308000														21			3		0	0	0.004672	0	0
RGAG1	57529	broad.mit.edu	37	X	109695935	109695935	+	Missense_Mutation	SNP	T	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chrX:109695935T>G	uc004eor.2	+	2	2336	c.2090T>G	c.(2089-2091)aTg>aGg	p.M697R	RGAG1_uc011msr.1_Missense_Mutation_p.M697R	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	697								p.M697T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATGCCACTAATGAGAGCTCAA	0.517000														9			18		0	0	0.007413	0	0
NUP153	9972	broad.mit.edu	37	6	17688708	17688708	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:17688708G>A	uc003ncd.1	-	1	453	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	NUP153_uc011dje.1_Missense_Mutation_p.H85Y|NUP153_uc010jpl.1_Missense_Mutation_p.H85Y	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	85					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATACCAGATGGTCCTCTTTA	0.438000														76			35		0	0	0.003271	0	0
IMMP2L	83943	broad.mit.edu	37	7	111127299	111127299	+	Silent	SNP	T	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr7:111127299T>A	uc003vfq.2	-	2	677	c.234A>T	c.(232-234)tcA>tcT	p.S78S	IMMP2L_uc010ljr.2_Silent_p.S78S|IMMP2L_uc003vfr.3_Silent_p.S78S	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CTTACACCAATGATACAATGT	0.363000														117			57		0	0	0.003610	0	0
PAPLN	89932	broad.mit.edu	37	14	73733497	73733497	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:73733497T>C	uc010ttx.2	+	23	3621	c.3458T>C	c.(3457-3459)tTg>tCg	p.L1153S	PAPLN_uc001xnw.4_Missense_Mutation_p.L1126S|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Intron|PAPLN_uc010tty.2_Missense_Mutation_p.L1137S|PAPLN_uc010arm.3_Missense_Mutation_p.L352S|PAPLN_uc010arn.3_Intron	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	1153	Ig-like C2-type 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGGCTATTGTGTGTGGTA	0.542000														13			6		0	0	0.003080	0	0
RRS1	23212	broad.mit.edu	37	8	67342373	67342373	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr8:67342373G>A	uc003xwa.3	+	0	1111	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	ADHFE1_uc003xwb.4_5'Flank|ADHFE1_uc003xwd.4_5'Flank|ADHFE1_uc003xwc.4_5'Flank|ADHFE1_uc003xwe.4_5'Flank|ADHFE1_uc003xwf.4_5'Flank|ADHFE1_uc011les.2_5'Flank|LOC100505676_uc022avk.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	Homo sapiens RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) (RRS1), mRNA.	336	Arg/Gly/Lys-rich.				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AAGAGGAAAGGGGGCTTGGGA	0.602000														65			24		0	0	0.002780	0	0
DDX47	51202	broad.mit.edu	37	12	12980185	12980185	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:12980185A>C	uc001rav.3	+	13	1710	c.1112A>C	c.(1111-1113)gAt>gCt	p.D371A	DDX47_uc001rax.3_Missense_Mutation_p.D371A|DDX47_uc001ray.3_Missense_Mutation_p.D322A	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 (DDX47), transcript variant 1, mRNA.	371	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CTCAGGTATGATGTGGAACTC	0.448000														70			35		0	0	0.004289	0	0
CDC40	51362	broad.mit.edu	37	6	110528715	110528715	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:110528715C>T	uc003pua.3	+	3	474	c.413C>T	c.(412-414)gCa>gTa	p.A138V		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	138					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TCAGGTTATGCATTAGACCCT	0.249000														106			42		0	0	0.009718	0	0
YEATS2	55689	broad.mit.edu	37	3	183508727	183508727	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:183508727T>C	uc003fly.2	+	20	3251	c.3056T>C	c.(3055-3057)gTg>gCg	p.V1019A	YEATS2_uc003flz.3_Missense_Mutation_p.V98A	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1019					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACGTCCCTCGTGCCTACACCA	0.532000														55			21		0	0	0.002299	0	0
SKAP1	8631	broad.mit.edu	37	17	46266785	46266785	+	Splice_Site	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr17:46266785C>T	uc002ini.1	-	5	470	c.358_splice	c.e5+1	p.D120_splice	SKAP1_uc002inj.1_Splice_Site_p.D120_splice|SKAP1_uc010dbd.1_Splice_Site_p.D26_splice|SKAP1_uc010dbe.1_Splice_Site_p.D120_splice	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	120	PH.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TGACCAATACCTTTGCTTTTC	0.433000														82			22		0	0	0.002780	0	0
LARP4B	23185	broad.mit.edu	37	10	858887	858887	+	Silent	SNP	A	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:858887A>G	uc001ifs.1	-	16	2237	c.2196T>C	c.(2194-2196)acT>acC	p.T732T		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	732							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ACTTGGGGGGAGTGCTCTGCT	0.662000														62			24		0	0	0.004656	0	0
LCP2	3937	broad.mit.edu	37	5	169724562	169724562	+	Missense_Mutation	SNP	G	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr5:169724562G>C	uc003man.1	-	0	261	c.54C>G	c.(52-54)gaC>gaG	p.D18E	LCP2_uc011det.1_5'UTR	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	18	SAM.				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)		CAGCAAGGCTGTCGGGGTCCC	0.557000														9			3		0	0	0.004672	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474881	78474881	+	Missense_Mutation	SNP	T	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr15:78474881T>G	uc002bdh.3	-	6	1027	c.821A>C	c.(820-822)aAc>aCc	p.N274T	ACSBG1_uc010umx.2_Missense_Mutation_p.N32T|ACSBG1_uc010umw.2_Missense_Mutation_p.N270T|ACSBG1_uc010umy.2_Missense_Mutation_p.N167T	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	274					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ACAGCACTGGTTGGGCTGCTG	0.587000														29			7		0	0	0.003080	0	0
RGL2	5863	broad.mit.edu	37	6	33260849	33260849	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:33260849T>C	uc003odv.3	-	15	2511	c.1951A>G	c.(1951-1953)Atc>Gtc	p.I651V	RGL2_uc003odu.3_Missense_Mutation_p.I211V|RGL2_uc010jur.3_Missense_Mutation_p.I211V|RGL2_uc003odw.3_Missense_Mutation_p.I569V	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	651	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACTCGGATGATACGGCAATCA	0.597000														255			123		0	0	0.003610	0	0
MNAT1	4331	broad.mit.edu	37	14	61434986	61434986	+	Silent	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:61434986T>C	uc001xfd.3	+	7	971	c.849T>C	c.(847-849)ctT>ctC	p.L283L	MNAT1_uc001xfe.3_Silent_p.L241L	NM_002431	NP_002422	P51948	MAT1_HUMAN	Homo sapiens menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) (MNAT1), transcript variant 1, mRNA.	283					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|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	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CACAGGACCTTGCTGGAGGCT	0.398000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)						79			39		0	0	0.008740	0	0
SLC2A13	114134	broad.mit.edu	37	12	40265609	40265609	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:40265609T>C	uc010skm.2	-	4	1240	c.1189A>G	c.(1189-1191)Agt>Ggt	p.S397G	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.S44G	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	397						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCTGCTAAACTACCAAAGGTA	0.378000										HNSCC(50;0.14)				50			30		0	0	0.008361	0	0
ABCA1	19	broad.mit.edu	37	9	107599352	107599352	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:107599352G>T	uc004bcl.3	-	10	1624	c.1220C>A	c.(1219-1221)gCt>gAt	p.A407D		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	407					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGGAACACAGCCAGTTCCTG	0.552000														34			12		7.03913e-09	7.80306e-09	0.001368	1	0
DLK1	8788	broad.mit.edu	37	14	101198410	101198410	+	Silent	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:101198410C>T	uc001yhs.4	+	3	498	c.294C>T	c.(292-294)gcC>gcT	p.A98A	DLK1_uc001yhu.4_Silent_p.A98A|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	98	EGF-like 3.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCCCCTGTGCCAACAACAGGA	0.627000														76			3		0	0	0.004672	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43651227	43651227	+	Silent	SNP	A	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:43651227A>G	uc001jan.3	+	1	965	c.630A>G	c.(628-630)aaA>aaG	p.K210K	CSGALNACT2_uc001jam.1_Silent_p.K210K	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	210					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTGGAGAGAAACTGATATTTA	0.363000														45			14		0	0	0.003163	0	0
COLEC10	10584	broad.mit.edu	37	8	120114630	120114630	+	Silent	SNP	A	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr8:120114630A>G	uc003yoo.3	+	3	433	c.336A>G	c.(334-336)aaA>aaG	p.K112K		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	112	Collagen-like.					collagen|cytoplasm	mannose binding	p.K112K(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CTGGAGAAAAAGGCAAAGCAG	0.294000														56			3		0	0	0.009096	0	0
SPON2	10417	broad.mit.edu	37	4	1165206	1165206	+	Missense_Mutation	SNP	A	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr4:1165206A>T	uc003gco.4	-	2	618	c.289T>A	c.(289-291)Ttt>Att	p.F97I	SPON2_uc021xkj.1_Missense_Mutation_p.F97I|SPON2_uc010ibr.3_Missense_Mutation_p.F97I|SPON2_uc003gcm.1_Missense_Mutation_p.F15I	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	97	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGCTCCGCAAAGTCGCGCAGC	0.701000														38			6		0	0	0.003080	0	0
CCNT1	904	broad.mit.edu	37	12	49088009	49088009	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:49088009G>A	uc001rsd.4	-	8	1311	c.988C>T	c.(988-990)Ccg>Tcg	p.P330S	CCNT1_uc009zkz.2_Missense_Mutation_p.P45S|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	330					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CGCTTGCCCGGCAACATCTCC	0.488000														103			4		0	0	0.009096	0	0
NLRP11	204801	broad.mit.edu	37	19	56329449	56329449	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:56329449G>T	uc010ygf.2	-	3	803	c.92C>A	c.(91-93)gCa>gAa	p.A31E	NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	31	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATCTTGCGTGCCAGATACTT	0.413000														75			24		2.27525e-19	2.60289e-19	0.003954	1	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000														50			5		0	0	0.000602	0	0
ENPP4	22875	broad.mit.edu	37	6	46108114	46108114	+	Missense_Mutation	SNP	T	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:46108114T>G	uc003oxy.3	+	1	1053	c.794T>G	c.(793-795)tTg>tGg	p.L265W		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	265						integral to membrane	hydrolase activity	p.D264A(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTTATAGATTTGAGCCCAGTT	0.418000														43			14		0	0	0.003163	0	0
SLC16A10	117247	broad.mit.edu	37	6	111409219	111409219	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:111409219G>T	uc003pus.3	+	0	439	c.264G>T	c.(262-264)caG>caT	p.Q88H	SLC16A10_uc003pur.4_Missense_Mutation_p.Q88H	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	88					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TCGGCATCCAGAACGCTTGCG	0.662000														26			9		2.17888e-05	2.308e-05	0.006214	1	0
ATP8B3	148229	broad.mit.edu	37	19	1785678	1785678	+	Missense_Mutation	SNP	C	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:1785678C>A	uc002ltw.3	-	25	3417	c.3183G>T	c.(3181-3183)aaG>aaT	p.K1061N	ATP8B3_uc002ltv.3_Missense_Mutation_p.K1024N|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1061					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		ACAGCTCCGGCTTCTCCAGGC	0.602000														16			4		0.00198382	0.00208593	0.001984	1	0
LRFN4	78999	broad.mit.edu	37	11	66627368	66627368	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:66627368T>A	uc001ojr.3	+	1	1950	c.1610T>A	c.(1609-1611)tTg>tAg	p.L537*	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	537						integral to membrane				breast(1)|lung(1)|prostate(1)	3						ACTGTGGCCTTGCTGGTTCGG	0.711000														12			10		0	0	0.008291	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870669	69870669	+	Missense_Mutation	SNP	C	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr4:69870669C>A	uc011cao.1	-	7	1486	c.1360G>T	c.(1360-1362)Gcc>Tcc	p.A454S	UGT2B10_uc011can.1_Missense_Mutation_p.A370S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	498					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCCACACAGGCCAGCAGGAAC	0.448000														129			13		1.3612e-06	1.46355e-06	0.003163	1	0
PROSC	11212	broad.mit.edu	37	8	37630321	37630321	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr8:37630321C>T	uc003xkh.3	+	4	445	c.368C>T	c.(367-369)gCa>gTa	p.A123V		NM_007198	NP_009129	O94903	PROSC_HUMAN	Homo sapiens proline synthetase co-transcribed homolog (bacterial) (PROSC), mRNA.	123							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GTGAAGTTGGCAGACAAAGTG	0.438000														122			4		0	0	0.009096	0	0
FARP2	9855	broad.mit.edu	37	2	242433435	242433435	+	Silent	SNP	G	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:242433435G>C	uc002wbi.2	+	26	3224	c.3060G>C	c.(3058-3060)gtG>gtC	p.V1020V		NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	1020	PH 2.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGATGGAGGTGATCCAGGGGG	0.637000														63			17		0	0	0.006122	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49969107	49969107	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:49969107G>A	uc002pnt.3	+	12	1797	c.1681G>A	c.(1681-1683)Ggt>Agt	p.G561S	ALDH16A1_uc010yar.2_Missense_Mutation_p.G510S|ALDH16A1_uc010yas.2_Missense_Mutation_p.G396S|ALDH16A1_uc010yat.2_Missense_Mutation_p.G398S	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	561							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGTGGCTGAGGGTGGAGCCAA	0.642000														31			12		0	0	0.001368	0	0
HDAC4	9759	broad.mit.edu	37	2	239988463	239988463	+	Silent	SNP	A	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:239988463A>T	uc002vyk.4	-	23	3735	c.2943T>A	c.(2941-2943)atT>atA	p.I981I	HDAC4_uc010fyy.3_Silent_p.I938I	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	981	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor 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)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGGCGTCGCAAATGGCGGTCA	0.632000														82			27		0	0	0.004656	0	0
SON	6651	broad.mit.edu	37	21	34922663	34922663	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr21:34922663T>C	uc002yse.1	+	2	1175	c.1126T>C	c.(1126-1128)Tcg>Ccg	p.S376P	SON_uc002ysb.1_Missense_Mutation_p.S376P|SON_uc002ysc.3_Missense_Mutation_p.S376P|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.S22P|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	376					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			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						GCAGGAGTCGTCGGTGGCCTC	0.627000														62			23		0	0	0.002299	0	0
LRRC56	115399	broad.mit.edu	37	11	552211	552211	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:552211C>T	uc010qvz.2	+	11	1665	c.1160C>T	c.(1159-1161)gCc>gTc	p.A387V		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	387										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCTCAGGGCCTGGAGGGAA	0.657000														41			23		0	0	0.002780	0	0
BPIFB2	80341	broad.mit.edu	37	20	31601760	31601760	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr20:31601760C>G	uc002wyj.3	+	4	647	c.453C>G	c.(451-453)aaC>aaG	p.N151K		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	151						extracellular region	lipid binding										ATGGCAGTAACAGGTGGGTGC	0.582000														23			13		0	0	0.002450	0	0
ZNF341	84905	broad.mit.edu	37	20	32376706	32376706	+	Silent	SNP	G	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr20:32376706G>T	uc002wzy.3	+	12	1910	c.1890G>T	c.(1888-1890)gcG>gcT	p.A630A	ZNF341_uc002wzx.3_Silent_p.A623A|ZNF341_uc010geq.3_Silent_p.A540A|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Silent_p.A57A	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A623A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCGAGTCTGCGTTCAACCGCA	0.547000														27			14		1.15088e-07	1.2563e-07	0.004007	1	0
NIN	51199	broad.mit.edu	37	14	51219341	51219341	+	Silent	SNP	T	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:51219341T>A	uc001wyi.3	-	20	5036	c.4845A>T	c.(4843-4845)acA>acT	p.T1615T	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.T1615T|NIN_uc001wyk.3_Silent_p.T902T|NIN_uc001wyo.3_Silent_p.T1615T	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1615					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATAGCATTTCTGTTAGACGTT	0.368000			T	PDGFRB	MPD									329			142		0	0	0.003610	0	0
KHK	3795	broad.mit.edu	37	2	27322367	27322367	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:27322367T>C	uc002ril.2	+	6	1250	c.733T>C	c.(733-735)Ttc>Ctc	p.F245L	KHK_uc002rim.2_Missense_Mutation_p.F245L|KHK_uc002rio.2_Missense_Mutation_p.F161L|CGREF1_uc010ylf.2_3'UTR|CGREF1_uc021vez.1_3'UTR	NM_000221	NP_000212	P50053	KHK_HUMAN	Homo sapiens ketohexokinase (fructokinase) (KHK), transcript variant a, mRNA.	245					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGGATGCTTTCCCGCCACC	0.637000														55			21		0	0	0.002780	0	0
USP19	10869	broad.mit.edu	37	3	49155544	49155544	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:49155544G>A	uc003cwd.2	-	2	453	c.134C>T	c.(133-135)tCt>tTt	p.S45F	USP19_uc003cwa.3_5'UTR|USP19_uc003cwb.3_Missense_Mutation_p.S45F|USP19_uc003cvz.4_Missense_Mutation_p.S45F|USP19_uc011bcg.2_Missense_Mutation_p.S45F|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Missense_Mutation_p.S45F|USP19_uc011bci.2_Missense_Mutation_p.S45F	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	45					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		aacatatcgagaccctgtctc	0.522000														10			3		0	0	0.004672	0	0
ZNF836	162962	broad.mit.edu	37	19	52659397	52659397	+	Silent	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:52659397G>A	uc010ydj.2	-	4	2061	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	ZNF836_uc010ydi.2_Silent_p.L513L	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TATGTCGAGTGAGTAATGAGC	0.388000														73			28		0	0	0.004656	0	0
SOLH	6650	broad.mit.edu	37	16	599030	599030	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr16:599030G>A	uc002chi.3	+	4	1850	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E		NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	496	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				TTCCCTCCCGGGCCCGAGTCT	0.657000														92			25		0	0	0.007291	0	0
SUGP2	10147	broad.mit.edu	37	19	19115397	19115397	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:19115397G>T	uc002nkz.1	-	6	2571	c.2551C>A	c.(2551-2553)Cta>Ata	p.L851I	SUGP2_uc002nkx.2_Missense_Mutation_p.L837I|SUGP2_uc002nla.1_Missense_Mutation_p.L837I|SUGP2_uc002nlb.2_Missense_Mutation_p.L837I|SUGP2_uc010xqk.1_Missense_Mutation_p.L606I	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	837					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GATGGACATAGTTCAAACACT	0.463000														90			35		1.07637e-12	1.21197e-12	0.004878	1	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														69			7		0	0	0.003080	0	0
LTBP1	4052	broad.mit.edu	37	2	33359941	33359941	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:33359941A>C	uc021vft.1	+	4	1138	c.1115A>C	c.(1114-1116)aAc>aCc	p.N372T	LTBP1_uc002rou.3_Missense_Mutation_p.N46T|LTBP1_uc002rov.3_Missense_Mutation_p.N46T|LTBP1_uc010ymz.2_Missense_Mutation_p.N46T|LTBP1_uc010yna.2_Missense_Mutation_p.N46T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	372					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCTGTCAGAACAGCTGTGAG	0.562000														45			21		0	0	0.012319	0	0
PEBP1	5037	broad.mit.edu	37	12	118577332	118577332	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:118577332G>T	uc001twu.1	+	2	467	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	PEBP1_uc010szc.1_Missense_Mutation_p.G108C	NM_002567	NP_002558	P30086	PEBP1_HUMAN	Homo sapiens phosphatidylethanolamine binding protein 1 (PEBP1), mRNA.	108							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGATTATGTGGGCTCGGGGCC	0.527000														61			13		5.50884e-06	5.87883e-06	0.001368	1	0
PCF11	51585	broad.mit.edu	37	11	82877690	82877690	+	Missense_Mutation	SNP	A	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:82877690A>T	uc001ozx.4	+	4	2096	c.1751A>T	c.(1750-1752)aAt>aTt	p.N584I	PCF11_uc010rsu.1_Missense_Mutation_p.N584I	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	584					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAAGGAGAATGTAGAAAAC	0.393000														53			13		0	0	0.001368	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20068802	20068802	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr8:20068802C>T	uc003wzp.3	+	5	792	c.578C>T	c.(577-579)tCt>tTt	p.S193F		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	193					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CCTATCTTCTCTGCTGCTGGG	0.453000														49			29		0	0	0.006320	0	0
RPUSD4	84881	broad.mit.edu	37	11	126079570	126079570	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr11:126079570C>T	uc001qde.3	-	2	457	c.403G>A	c.(403-405)Gca>Aca	p.A135T	FAM118B_uc001qdf.3_5'Flank|FAM118B_uc009zca.3_5'Flank|RPUSD4_uc010sbl.2_5'Flank|RPUSD4_uc009zbz.3_Missense_Mutation_p.A135T	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	135					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		AGCATCTTTGCCAGGATAGGT	0.532000														250			5		0	0	0.001168	0	0
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:195505813T>C	uc021xjp.1	-	1	12794	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D4213G(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.592000														4			2		0	0	0.004672	0	0
TYSND1	219743	broad.mit.edu	37	10	71899794	71899794	+	Silent	SNP	G	A	A	rs61748802	byFrequency	TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:71899794G>A	uc001jqr.3	-	3	1741	c.1587C>T	c.(1585-1587)taC>taT	p.Y529Y	TYSND1_uc001jqq.3_Non-coding_Transcript|TYSND1_uc001jqs.3_3'UTR|TYSND1_uc001jqt.3_Non-coding_Transcript	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA.	529	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GGGTCTGGCTGTACTGCTGCA	0.652000														55			39		0	0	0.007835	0	0
ABL1	25	broad.mit.edu	37	9	133750315	133750315	+	Missense_Mutation	SNP	T	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:133750315T>G	uc004bzw.3	+	6	1149	c.1146T>G	c.(1144-1146)ttT>ttG	p.F382L	ABL1_uc004bzv.3_Missense_Mutation_p.F401L	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	382	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.F382L(2)|p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TAGCTGATTTTGGCCTGAGCA	0.537000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									103			3		0	0	0.004672	0	0
BRAT1	221927	broad.mit.edu	37	7	2587034	2587034	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr7:2587034C>G	uc003smi.3	-	2	494	c.206G>C	c.(205-207)aGt>aCt	p.S69T	BRAT1_uc003smj.2_Missense_Mutation_p.S69T	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	69					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GACCCCAGAACTCAGGTCCTG	0.622000														55			44		0	0	0.011902	0	0
AIPL1	23746	broad.mit.edu	37	17	6328868	6328868	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr17:6328868G>A	uc002gcp.3	-	5	1162	c.1067C>T	c.(1066-1068)aCa>aTa	p.T356I	AIPL1_uc021toq.1_Missense_Mutation_p.T317I|AIPL1_uc002gcq.3_Missense_Mutation_p.T296I|AIPL1_uc002gcr.3_Missense_Mutation_p.T293I|AIPL1_uc010clk.3_Missense_Mutation_p.T334I|AIPL1_uc010cll.3_Missense_Mutation_p.T332I|AIPL1_uc021tor.1_3'UTR|AIPL1_uc002gcs.3_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	356					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		agatggtgctgtgggtggctc	0.692000														79			66		0	0	0.003610	0	0
SLC35G6	643664	broad.mit.edu	37	17	7386125	7386125	+	Silent	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr17:7386125C>T	uc010cmj.1	+	1	937	c.822C>T	c.(820-822)gtC>gtT	p.V274V	ZBTB4_uc002ghd.4_Intron|POLR2A_uc002ghe.3_5'Flank|POLR2A_uc002ghf.4_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	Homo sapiens solute carrier family 35, member G6 (SLC35G6), mRNA.	274	DUF6 2.					integral to membrane											GCTATGCGGTCACCAAGGCCC	0.592000														143			26		0	0	0.004656	0	0
ASTL	431705	broad.mit.edu	37	2	96789883	96789883	+	Silent	SNP	G	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:96789883G>C	uc010yui.2	-	8	1002	c.1002C>G	c.(1000-1002)ccC>ccG	p.P334P		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	334					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTGCAGGAACGGGCTGGCCTC	0.672000														93			3		0	0	0.001168	0	0
C9orf72	203228	broad.mit.edu	37	9	27548367	27548367	+	Missense_Mutation	SNP	T	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:27548367T>A	uc003zqq.2	-	10	1410	c.1313A>T	c.(1312-1314)gAt>gTt	p.D438V	C9orf72_uc022bfa.1_Missense_Mutation_p.D438V	NM_018325	NP_060795	Q96LT7	CI072_HUMAN	Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA.	438										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TGCTGTTAAATCAAGGTCTAT	0.348000														87			24		0	0	0.003954	0	0
FGF12	2257	broad.mit.edu	37	3	192078247	192078247	+	Missense_Mutation	SNP	C	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:192078247C>A	uc003fsx.3	-	1	1106	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	FGF12_uc003fsy.3_Missense_Mutation_p.D32Y	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	94					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTGGTCCCATCAATGGTACCA	0.408000														50			16		1.67942e-08	1.84736e-08	0.006122	1	0
OR4E2	26686	broad.mit.edu	37	14	22133796	22133796	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:22133796C>G	uc010tmd.2	+	0	500	c.500C>G	c.(499-501)cCt>cGt	p.P167R		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATTCGTCTACCTTACTGTGGC	0.458000														111			49		0	0	0.003610	0	0
NSD1	64324	broad.mit.edu	37	5	176639042	176639042	+	Silent	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr5:176639042T>C	uc003mfr.4	+	4	3780	c.3642T>C	c.(3640-3642)ctT>ctC	p.L1214L	NSD1_uc003mft.4_Silent_p.L945L|NSD1_uc003mfs.1_Silent_p.L1111L|NSD1_uc011dfx.2_Silent_p.L862L	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1214					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.I1213M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAAGCATACTTGAGGAACCAC	0.483000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				30			13		0	0	0.004990	0	0
KIAA1598	57698	broad.mit.edu	37	10	118689489	118689489	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:118689489C>T	uc021pzk.1	-	9	1381	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	KIAA1598_uc009xyw.3_Missense_Mutation_p.E295K|KIAA1598_uc001lcz.4_Missense_Mutation_p.E295K|KIAA1598_uc010qso.2_Missense_Mutation_p.E235K|KIAA1598_uc010qsp.1_Missense_Mutation_p.E295K|KIAA1598_uc010qsq.1_Missense_Mutation_p.E235K|KIAA1598_uc001lcy.4_Missense_Mutation_p.E265K	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	295					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GTTTCATTTTCTAGTTGCTCT	0.308000														91			27		0	0	0.010818	0	0
ABL1	25	broad.mit.edu	37	9	133730265	133730265	+	Missense_Mutation	SNP	G	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:133730265G>C	uc004bzw.3	+	2	334	c.331G>C	c.(331-333)Gtc>Ctc	p.V111L	ABL1_uc004bzv.3_Missense_Mutation_p.V130L	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	111	SH3.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCAAGGCTGGGTCCCAAGCAA	0.522000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									45			14		0	0	0.002450	0	0
POLR3A	11128	broad.mit.edu	37	10	79741971	79741971	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:79741971C>G	uc001jzn.3	-	27	3833	c.3700G>C	c.(3700-3702)Gca>Cca	p.A1234P		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	1234					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCATGACTGCCCGCAGGTTA	0.567000														67			31		0	0	0.008361	0	0
USP20	10868	broad.mit.edu	37	9	132618631	132618631	+	Missense_Mutation	SNP	T	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:132618631T>A	uc004bys.2	+	3	338	c.127T>A	c.(127-129)Tgt>Agt	p.C43S	USP20_uc004byr.2_Missense_Mutation_p.C43S|USP20_uc004byt.1_Missense_Mutation_p.C43S	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	43					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCTATGGGCCTGTCTGCAGGT	0.582000														120			52		0	0	0.003610	0	0
PITRM1	10531	broad.mit.edu	37	10	3191832	3191832	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:3191832A>C	uc009xhv.2	-	15	1921	c.1852T>G	c.(1852-1854)Ttc>Gtc	p.F618V	PITRM1_uc001igr.2_Missense_Mutation_p.F618V|PITRM1_uc001igt.2_Missense_Mutation_p.F618V|PITRM1_uc010qah.2_Missense_Mutation_p.F586V|PITRM1_uc001igu.1_Missense_Mutation_p.F610V|PITRM1_uc010qai.2_Missense_Mutation_p.F589V	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	586					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACGCTGCAGAAGAGGGGCACA	0.517000														169			69		0	0	0.003610	0	0
PTPRM	5797	broad.mit.edu	37	18	8376563	8376563	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr18:8376563C>T	uc002knn.4	+	23	3894	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	PTPRM_uc010dkv.3_Missense_Mutation_p.R1144W|PTPRM_uc010wzl.2_Missense_Mutation_p.R918W	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	1131	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGGGAGCTGCGGTCACGGAG	0.572000														55			4		0	0	0.009096	0	0
SLC6A13	6540	broad.mit.edu	37	12	346349	346349	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:346349C>G	uc001qic.2	-	5	761	c.671G>C	c.(670-672)tGg>tCg	p.W224S	SLC6A13_uc009zdj.2_Missense_Mutation_p.W224S|SLC6A13_uc010sdl.2_Missense_Mutation_p.W132S|SLC6A13_uc010sdm.1_Missense_Mutation_p.W105S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	224					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCCCCTTCCAGATGCAGAA	0.632000														80			26		0	0	0.003954	0	0
KIAA1598	57698	broad.mit.edu	37	10	118689491	118689491	+	Missense_Mutation	SNP	A	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr10:118689491A>G	uc021pzk.1	-	9	1379	c.881T>C	c.(880-882)cTa>cCa	p.L294P	KIAA1598_uc009xyw.3_Missense_Mutation_p.L294P|KIAA1598_uc001lcz.4_Missense_Mutation_p.L294P|KIAA1598_uc010qso.2_Missense_Mutation_p.L234P|KIAA1598_uc010qsp.1_Missense_Mutation_p.L294P|KIAA1598_uc010qsq.1_Missense_Mutation_p.L234P|KIAA1598_uc001lcy.4_Missense_Mutation_p.L264P	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	294					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTCATTTTCTAGTTGCTCTTC	0.303000														89			27		0	0	0.009535	0	0
TMEM186	25880	broad.mit.edu	37	16	8890423	8890423	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr16:8890423T>C	uc002cze.3	-	1	62	c.28A>G	c.(28-30)Agg>Ggg	p.R10G	PMM2_uc002czf.4_5'Flank|PMM2_uc010uyf.2_5'Flank|PMM2_uc010uyg.2_5'Flank|PMM2_uc010uyh.2_5'Flank|PMM2_uc010buj.3_5'Flank|PMM2_uc010uyi.2_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	Homo sapiens transmembrane protein 186 (TMEM186), mRNA.	10						integral to membrane|mitochondrion		p.R9H(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						CCCCGAAACCTACGCACAGCT	0.547000														56			20		0	0	0.012319	0	0
INADL	10207	broad.mit.edu	37	1	62550317	62550317	+	Silent	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr1:62550317C>T	uc001dab.3	+	32	4488	c.4374C>T	c.(4372-4374)ccC>ccT	p.P1458P	INADL_uc009waf.1_Silent_p.P1458P|INADL_uc001daa.2_Silent_p.P1458P|INADL_uc001dad.3_Silent_p.P1155P|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Silent_p.P242P|INADL_uc009wag.3_Silent_p.P242P|INADL_uc010oou.1_Silent_p.P131P	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1458	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.P1458P(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGACACACCCTTGGTAAGTT	0.448000														68			27		0	0	0.004656	0	0
PMFBP1	83449	broad.mit.edu	37	16	72198700	72198700	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr16:72198700T>C	uc002fcc.4	-	2	300	c.128A>G	c.(127-129)aAt>aGt	p.N43S	PMFBP1_uc002fcd.3_Missense_Mutation_p.N43S|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	43										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)				GCAGAGCTGATTGTCCTGCAA	0.542000														89			70		0	0	0.003610	0	0
AIPL1	23746	broad.mit.edu	37	17	6328845	6328845	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr17:6328845C>T	uc002gcp.3	-	5	1185	c.1090G>A	c.(1090-1092)Gca>Aca	p.A364T	AIPL1_uc021toq.1_Missense_Mutation_p.A325T|AIPL1_uc002gcq.3_Missense_Mutation_p.A304T|AIPL1_uc002gcr.3_Missense_Mutation_p.A301T|AIPL1_uc010clk.3_Missense_Mutation_p.A342T|AIPL1_uc010cll.3_Missense_Mutation_p.A340T|AIPL1_uc021tor.1_3'UTR|AIPL1_uc002gcs.3_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	364					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		gggggccctgcggacagctct	0.701000														72			55		0	0	0.003610	0	0
POLQ	10721	broad.mit.edu	37	3	121260262	121260262	+	Missense_Mutation	SNP	C	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:121260262C>A	uc003eee.4	-	2	537	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	136	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTTTCTTCCGCATTTCCAAAA	0.348000								DNA polymerases (catalytic subunits)						183			64		1.43987e-31	1.67399e-31	0.003610	1	0
AK8	158067	broad.mit.edu	37	9	135601117	135601117	+	Missense_Mutation	SNP	G	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:135601117G>C	uc004cbu.1	-	12	1954	c.1398C>G	c.(1396-1398)atC>atG	p.I466M	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Missense_Mutation_p.I262M	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	466	Adenylate kinase.					cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCCCACTCTCGATGTATTCGA	0.557000														6			3		0	0	0.004672	0	0
ABI3BP	25890	broad.mit.edu	37	3	100593699	100593699	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:100593699A>C	uc003dun.3	-	8	1002	c.917T>G	c.(916-918)cTc>cGc	p.L306R	ABI3BP_uc003duo.2_Missense_Mutation_p.L299R|ABI3BP_uc003dup.4_Missense_Mutation_p.L299R	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	306						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTGTGTCTTGAGTGCATCTGA	0.343000														8			3		0	0	0.004672	0	0
HDAC6	10013	broad.mit.edu	37	X	48682180	48682180	+	Silent	SNP	G	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chrX:48682180G>A	uc011mmi.1	+	25	3383	c.3288G>A	c.(3286-3288)agG>agA	p.R1096R	HDAC6_uc004dks.1_Silent_p.R1096R|HDAC6_uc010nig.1_Silent_p.R944R|HDAC6_uc004dkt.1_Silent_p.R1096R|HDAC6_uc011mmk.1_Silent_p.R1077R|HDAC6_uc004dkv.1_Silent_p.R744R|HDAC6_uc004dkw.1_Silent_p.R744R|HDAC6_uc004dkx.1_Silent_p.R459R	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	1096					Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGGGATCTAGGGGCCTCACTG	0.547000														5			10		0	0	0.010729	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296329	39296329	+	Silent	SNP	T	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr17:39296329T>G	uc010cxk.2	-	0	411	c.411A>C	c.(409-411)ccA>ccC	p.P137P		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	133	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ggcagcagGTTGGCTGGCAGC	0.682000														54			4		0	0	0.009096	0	0
CWC22	57703	broad.mit.edu	37	2	180810243	180810243	+	Silent	SNP	A	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr2:180810243A>G	uc010frh.1	-	19	2640	c.2340T>C	c.(2338-2340)ccT>ccC	p.P780P	CWC22_uc002uno.2_Silent_p.P302P|CWC22_uc002unp.2_Silent_p.P780P	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	780						catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACTTTGTTATAGGATCTCTCC	0.388000														182			63		0	0	0.003610	0	0
FN3KRP	79672	broad.mit.edu	37	17	80674717	80674717	+	Missense_Mutation	SNP	G	A	A	rs138953335		TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr17:80674717G>A	uc002kfu.3	+	0	136	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	FN3KRP_uc010wvr.2_5'UTR	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	Homo sapiens fructosamine 3 kinase related protein (FN3KRP), mRNA.	29							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGCCAGGGCCGGAGCTACGAC	0.701000														42			3		0	0	0.004672	0	0
ITPR2	3709	broad.mit.edu	37	12	26810769	26810769	+	Missense_Mutation	SNP	A	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:26810769A>T	uc001rhg.3	-	17	2480	c.2063T>A	c.(2062-2064)aTt>aAt	p.I688N		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	688					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTCATCATCAATGTCATCTGA	0.423000														63			21		0	0	0.009535	0	0
UVSSA	57654	broad.mit.edu	37	4	1347115	1347115	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr4:1347115A>C	uc003gde.4	+	4	1295	c.848A>C	c.(847-849)gAg>gCg	p.E283A		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	283																	CCCTCAGATGAGGACGAGGAC	0.657000														16			3		0	0	0.000602	0	0
PTPRT	11122	broad.mit.edu	37	20	40730779	40730779	+	Silent	SNP	G	A	A	rs146474971	by1000genomes	TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr20:40730779G>A	uc002xkg.3	-	25	3883	c.3699C>T	c.(3697-3699)aaC>aaT	p.N1233N	PTPRT_uc010ggj.3_Silent_p.N1252N|PTPRT_uc010ggi.3_Silent_p.N436N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1233	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCAGTGCTGCGTTGATGTAAT	0.552000														68			14		0	0	0.003163	0	0
TNFSF10	8743	broad.mit.edu	37	3	172227069	172227069	+	Missense_Mutation	SNP	G	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:172227069G>C	uc003fid.3	-	3	479	c.356C>G	c.(355-357)cCt>cGt	p.P119R	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Intron	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	119					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TACTCTCTGAGGACCTCTTTC	0.388000														57			22		0	0	0.002299	0	0
CCIN	881	broad.mit.edu	37	9	36170075	36170075	+	Silent	SNP	C	T	T			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:36170075C>T	uc003zzb.4	+	0	687	c.576C>T	c.(574-576)ctC>ctT	p.L192L		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	192	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TTCACGTGCTCAATGAAGACC	0.507000														40			29		0	0	0.006320	0	0
TMX3	54495	broad.mit.edu	37	18	66378637	66378637	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr18:66378637A>C	uc002lkf.3	-	2	240	c.105T>G	c.(103-105)ttT>ttG	p.F35L	TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.F35L|TMX3_uc002lkg.4_Missense_Mutation_p.F35L	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	35	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GATTTTCTTTAAACCTAAAAA	0.279000														46			34		0	0	0.002836	0	0
DOPEY1	23033	broad.mit.edu	37	6	83862020	83862020	+	Silent	SNP	T	A	A			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:83862020T>A	uc011dyy.2	+	29	6296	c.6036T>A	c.(6034-6036)ccT>ccA	p.P2012P	DOPEY1_uc003pjs.1_Silent_p.P2021P|DOPEY1_uc010kbl.1_Silent_p.P2012P|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2021					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTTATCACCTGCAATGGAAA	0.313000														29			15		0	0	0.002450	0	0
FAM40A	85369	broad.mit.edu	37	1	110587506	110587507	+	Frame_Shift_Ins	INS	-	TA	TA			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr1:110587506_110587507insTA	uc001dza.1	+	10	1350_1351	c.1331_1332insTA	c.(1330-1332)tttfs	p.F444fs	FAM40A_uc001dyz.1_Frame_Shift_Ins_p.F349fs|FAM40A_uc009wfp.1_Frame_Shift_Ins_p.F268fs	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	444						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CGCAGCAAATTTATAGGTTACA	0.436													---	76	---	---	30	---					
SLC35G2	80723	broad.mit.edu	37	3	136573495	136573495	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr3:136573495delG	uc003erf.4	+	1	407	c.193delG	c.(193-195)gggfs	p.G65fs	SLC35G2_uc003erg.4_Frame_Shift_Del_p.G65fs|SLC35G2_uc010hub.3_Frame_Shift_Del_p.G65fs|SLC35G2_uc021xem.1_Frame_Shift_Del_p.G65fs	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	65						Golgi apparatus|integral to membrane		p.G65R(1)									GAAAAAAAAAGGGAGAGCTTT	0.403													---	128	---	---	36	---					
DCHS2	54798	broad.mit.edu	37	4	155180741	155180741	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr4:155180741delC	uc003inw.2	-	19	5380	c.5380delG	c.(5380-5382)gcafs	p.A1794fs		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1794	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GACACTGATGCCTGGTAAATG	0.413													---	162	---	---	45	---					
MAP7	9053	broad.mit.edu	37	6	136693761	136693761	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:136693761delA	uc011edg.2	-	7	1093	c.844delT	c.(844-846)tctfs	p.S282fs	MAP7_uc011edf.2_Frame_Shift_Del_p.S237fs|MAP7_uc010kgu.3_Frame_Shift_Del_p.S274fs|MAP7_uc011edh.2_Frame_Shift_Del_p.S237fs|MAP7_uc010kgv.3_Frame_Shift_Del_p.S274fs|MAP7_uc010kgs.3_Frame_Shift_Del_p.S106fs|MAP7_uc011edi.2_Frame_Shift_Del_p.S106fs|MAP7_uc010kgq.2_Frame_Shift_Del_p.S158fs|MAP7_uc003qgz.3_Frame_Shift_Del_p.S252fs|MAP7_uc003qha.2_Frame_Shift_Del_p.S215fs|MAP7_uc010kgr.2_Frame_Shift_Del_p.S106fs|MAP7_uc010kgt.2_Frame_Shift_Del_p.S274fs|MAP7_uc003qhb.3_Non-coding_Transcript	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	252					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGGCTGCAAGATGCTGAACGA	0.488													---	93	---	---	24	---					
SHPRH	257218	broad.mit.edu	37	6	146264642	146264642	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr6:146264642delT	uc003qlf.3	-	8	2274	c.1875delA	c.(1873-1875)caafs	p.Q625fs	SHPRH_uc003qle.3_Frame_Shift_Del_p.Q625fs|SHPRH_uc003qlg.1_Frame_Shift_Del_p.Q181fs|SHPRH_uc003qlj.1_Frame_Shift_Del_p.Q514fs	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	625					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTCATGTTCTTGGTTGAATT	0.408													---	171	---	---	64	---					
NFX1	4799	broad.mit.edu	37	9	33319104	33319106	+	In_Frame_Del	DEL	CCT	-	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr9:33319104_33319106delCCT	uc003zsr.3	+	8	2038_2040	c.1885_1887delCCT	c.(1885-1887)cctdel	p.P629del	NFX1_uc011lnw.2_In_Frame_Del_p.P629del|NFX1_uc003zso.3_In_Frame_Del_p.P629del|NFX1_uc003zsp.2_In_Frame_Del_p.P629del|NFX1_uc010mjr.2_In_Frame_Del_p.P629del|NFX1_uc003zsq.3_In_Frame_Del_p.P629del	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	629					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTGCGGCAAGCCTCTGCCTTGTG	0.438													---	39	---	---	22	---					
NAV3	89795	broad.mit.edu	37	12	78513435	78513436	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr12:78513435_78513436insG	uc001syp.3	+	14	3632_3633	c.3459_3460insG	c.(3457-3462)ggaggcfs	p.G1153fs	NAV3_uc001syo.3_Frame_Shift_Ins_p.G1153fs|NAV3_uc010sub.2_Frame_Shift_Ins_p.G653fs|NAV3_uc009zsf.3_Frame_Shift_Ins_p.G161fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1153	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGGCCGAGGAGGCCACAGATC	0.525										HNSCC(70;0.22)			---	54	---	---	20	---					
AP1G2	8906	broad.mit.edu	37	14	24036472	24036472	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr14:24036472delC	uc001wkl.2	-	1	389	c.52delG	c.(52-54)gccfs	p.A18fs	AP1G2_uc001wkk.3_5'UTR|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Frame_Shift_Del_p.A18fs|AP1G2_uc010aks.3_5'UTR|AP1G2_uc010akt.3_5'UTR|AP1G2_uc010tnq.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	18					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGAGTCTTGGCCCCGCGAATC	0.637											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	56	---	---	15	---					
C16orf7	9605	broad.mit.edu	37	16	89776218	89776219	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr16:89776218_89776219delGA	uc002fom.1	-	10	1479_1480	c.1354_1355delTC	c.(1354-1356)tccfs	p.S452fs	C16orf7_uc002fol.1_Frame_Shift_Del_p.S382fs|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	452					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCACAGCGGGGAGAAAAAGGGT	0.619													---	153	---	---	31	---					
RINL	126432	broad.mit.edu	37	19	39359912	39359925	+	Frame_Shift_Del	DEL	TGCAGCGTCCGCCT	-	-			TCGA-EV-5903-01A-11D-1589-08	TCGA-EV-5903-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47cd3f3e-d93f-4343-8212-7656684a197c	f11afb9d-944d-4565-a9df-bdd5c35e0568	g.chr19:39359912_39359925delTGCAGCGTCCGCCT	uc010xuo.2	-	10	1687_1700	c.1600_1613delAGGCGGACGCTGCA	c.(1600-1614)aggcggacgctgcacfs	p.R534fs	RINL_uc002ojq.3_Frame_Shift_Del_p.R420fs|RINL_uc002ojr.1_Frame_Shift_Del_p.R55fs	NM_001195833	NP_001182762	Q6ZS11	RINL_HUMAN	Homo sapiens Ras and Rab interactor-like (RINL), transcript variant 1, mRNA.	420							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						ATCCTTTCTGTGCAGCGTCCGCCTGCGGTGCCAC	0.673													---	83	---	---	19	---					
