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
MCTP2	55784	broad.mit.edu	37	15	94841674	94841674	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:94841674C>T	uc002btj.3	+	0	245	c.180C>T	c.(178-180)gcC>gcT	p.A60A	MCTP2_uc010urg.1_Silent_p.A60A|MCTP2_uc002bti.2_Silent_p.A60A|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Silent_p.A60A|MCTP2_uc002btg.4_Silent_p.A60A|MCTP2_uc002bth.4_Silent_p.A60A	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	60					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGGCTGAGGCCTTGGCCCCAG	0.602000														65			22		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762118	92762118	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:92762118G>A	uc003umh.1	-	4	4383	c.3167C>T	c.(3166-3168)tCc>tTc	p.S1056F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1056F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1056F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1056F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1056F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1056F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1056F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1056F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1056										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTAATGGGGAAAACAGAGT	0.393000														87			40		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701991	30701991	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:30701991G>A	uc003xil.3	-	0	4543	c.4543C>T	c.(4543-4545)Cat>Tat	p.H1515Y		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1515										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTGCTCAGATGGGAATCAATC	0.343000														144			55		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246260	47246260	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:47246260C>T	uc002ion.2	+	9	1552	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L	B4GALNT2_uc010wlt.1_Missense_Mutation_p.S412L|B4GALNT2_uc010wlu.1_Missense_Mutation_p.S438L	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	498					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GTGGCTCACTCAGGTGGGAAG	0.577000														33			8		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24434540	24434540	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:24434540G>A	uc001bin.4	-	2	348	c.185C>T	c.(184-186)gCc>gTc	p.A62V	MYOM3_uc001bio.3_Missense_Mutation_p.A62V|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	62										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTAGTCCGCGGCGCTGAACTC	0.632000														33			19		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38154822	38154822	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:38154822C>T	uc001uwo.4	-	10	1523	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	POSTN_uc010tet.2_5'UTR|POSTN_uc001uwp.4_Missense_Mutation_p.E469K|POSTN_uc001uwr.3_Missense_Mutation_p.E469K|POSTN_uc001uwq.3_Missense_Mutation_p.E469K|POSTN_uc010teu.1_Missense_Mutation_p.E469K|POSTN_uc010tev.1_Missense_Mutation_p.E469K|POSTN_uc010tew.1_Missense_Mutation_p.E469K|POSTN_uc010tex.1_Missense_Mutation_p.E384K	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	469	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATGAATTTTCAATGCAGACA	0.423000														150			63		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124459225	124459225	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:124459225C>T	uc001lgn.3	-	0	114	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	28										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				ACTGGCTTTTCATTCTTCCTT	0.443000														50			27		0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917271	99917271	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:99917271G>A	uc004egb.3	+	3	742	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	88	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CACGCGTTGTGAGCTCTCCTG	0.537000														60			63		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43021879	43021879	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:43021879G>A	uc009vwk.1	+	4	588	c.478G>A	c.(478-480)Gag>Aag	p.E160K	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Intron	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	160										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTCAGTAAAGGAGGGCAGTTT	0.393000														52			8		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654550	46654550	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:46654550G>A	uc003bhh.3	-	0	4670	c.4670C>T	c.(4669-4671)tCc>tTc	p.S1557F		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1557					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCCTTTTGGGAAGGGTGCTG	0.453000														139			59		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150713833	150713833	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:150713833G>A	uc011kvc.2	-	10	2439	c.2363C>T	c.(2362-2364)cCa>cTa	p.P788L	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	789					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCGCAGCTGGACAGGGGGC	0.647000														24			7		0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346562	113346562	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:113346562C>T	uc001tuc.3	+	1	508	c.402C>T	c.(400-402)ttC>ttT	p.F134F	OAS1_uc010syn.2_Silent_p.F133F|OAS1_uc010syo.2_Silent_p.F133F|OAS1_uc001tub.3_Silent_p.F134F|OAS1_uc001tud.3_Silent_p.F134F|OAS1_uc009zwf.3_Silent_p.F133F	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	134	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CGCTCAGCTTCGTACTGAGTT	0.572000														68			30		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175493	140175493	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140175493C>T	uc003lhd.2	+	0	1050	c.944C>T	c.(943-945)tCc>tTc	p.S315F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.S315F|PCDHAC2_uc011czy.2_Missense_Mutation_p.S315F	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	330	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCAAAGTCCTACGAGATT	0.393000														50			21		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119013973	119013973	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:119013973G>A	uc001ldd.2	+	5	828	c.665G>A	c.(664-666)gGa>gAa	p.G222E	SLC18A2_uc009xyy.2_Missense_Mutation_p.G19E	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	222					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AACGTCATGGGAATCGCCTTG	0.592000														46			13		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100687012	100687012	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:100687012C>T	uc003uxp.1	+	2	12368	c.12315C>T	c.(12313-12315)ttC>ttT	p.F4105F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4105						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCACTTCCTTCCCCACGGTGA	0.542000														90			26		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	192997197	192997197	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:192997197G>A	uc011bsq.2	-	27	3273	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1091					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAAACAGAATGAAAATTGTGA	0.348000														38			16		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34262985	34262985	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:34262985C>T	uc002nus.4	+	4	797	c.292C>T	c.(292-294)Ccg>Tcg	p.P98S	CHST8_uc002nut.4_Missense_Mutation_p.P98S|CHST8_uc002nuu.3_Missense_Mutation_p.P98S	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	98					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCCTCAACCCCCGCTGCAGAG	0.667000														41			11		0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7875857	7875857	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:7875857C>T	uc002wmw.1	-	4	760	c.736G>A	c.(736-738)Gag>Aag	p.E246K	HAO1_uc010gbu.3_Missense_Mutation_p.E246K	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	246	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTAACAGCCTCCCTGGCATCA	0.502000														82			39		0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926922	112926922	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:112926922C>T	uc001ttx.3	+	12	1922	c.1542C>T	c.(1540-1542)atC>atT	p.I514I		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	518	Tyrosine-protein phosphatase.		Q -> P (in LEOPARD1).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACCGATTTATCTATATGGCGG	0.498000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					170			68		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34543105	34543105	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:34543105A>C	uc001zhw.3	-	9	1651	c.1487T>G	c.(1486-1488)gTt>gGt	p.V496G	SLC12A6_uc001zhv.3_Missense_Mutation_p.V445G|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.V481G|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.V437G|SLC12A6_uc001zib.3_Missense_Mutation_p.V487G|SLC12A6_uc001zic.3_Missense_Mutation_p.V496G|SLC12A6_uc010bau.3_Missense_Mutation_p.V496G|SLC12A6_uc001zid.3_Missense_Mutation_p.V437G|SLC12A6_uc001zht.3_5'Flank|SLC12A6_uc001zhu.3_Missense_Mutation_p.V308G	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	496					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TTTACCTGTAACAGAGGGAAA	0.433000														58			18		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55795218	55795218	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:55795218C>T	uc010spl.2	+	0	906	c.906C>T	c.(904-906)ttC>ttT	p.F302F		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTAGGGAATTCACCAAAAAAA	0.353000														38			18		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141766	114141766	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:114141766G>A	uc004epu.1	+	5	1893	c.1165G>A	c.(1165-1167)Gta>Ata	p.V389I	HTR2C_uc010nqc.1_Missense_Mutation_p.V389I|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	389					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CAATTATAAGGTAGAGAAAAA	0.428000														77			55		0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	18004859	18004859	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:18004859C>T	uc002gsh.1	+	7	739	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_001388	NP_001379	P55039	DRG2_HUMAN	Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA.	228					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CGGACGAGTTCATCGATGTGA	0.582000														58			33		0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55072876	55072876	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:55072876C>T	uc002iuv.4	+	7	719	c.666C>T	c.(664-666)ctC>ctT	p.L222L	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_Silent_p.L172L	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	222					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGTCTCTTCTCGAAGACAAAG	0.502000														78			25		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496610	20496610	+	RNA	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:20496610G>A	uc001ytf.1	+	5		c.663G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCTACTAGTCGAAAGTGGCCT	0.438000														51			10		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148806	34148806	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:34148806G>A	uc004ddg.3	-	0	1642	c.1590C>T	c.(1588-1590)ctC>ctT	p.L530L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	530										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTCCGGACCGAGACTGGACG	0.657000														68			33		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60781435	60781435	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:60781435C>T	uc001nqq.3	+	7	1561	c.1336C>T	c.(1336-1338)Ccg>Tcg	p.P446S	CD6_uc001nqp.3_Missense_Mutation_p.P446S|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Intron|CD6_uc001nqt.3_Missense_Mutation_p.P446S	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	446					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CACCACCATCCCGGCAGGGAG	0.572000														35			10		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91859860	91859860	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:91859860G>A	uc001doa.4	-	3	383	c.284C>T	c.(283-285)cCt>cTt	p.P95L	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.P95L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	95							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTATCAGAAGGAAAGGCAAA	0.313000														48			15		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185190	24185190	+	Silent	SNP	C	T	T	rs142830943	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:24185190C>T	uc003ccz.4	-	8	1060	c.540G>A	c.(538-540)ctG>ctA	p.L180L	THRB_uc010hfe.3_Silent_p.L180L|THRB_uc003ccy.4_Silent_p.L180L|THRB_uc003ccx.4_Silent_p.L180L	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	180					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGCTGTCATCCAGCACCACTG	0.577000														52			24		0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11090894	11090894	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:11090894C>T	uc010shi.2	-	0	913	c.913G>A	c.(913-915)Ggg>Agg	p.G305R	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Non-coding_Transcript	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	305					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	p.D304N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						GAGGGCTCCCCATCTTTGAAC	0.363000														79			42		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068238	5068238	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5068238G>A	uc010qyv.2	+	0	483	c.483G>A	c.(481-483)atG>atA	p.M161I		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTTCCCATGGTCTATCTTA	0.453000														77			16		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123270105	123270105	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:123270105C>T	uc003vku.1	+	10	1818	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	ASB15_uc003vkw.1_Missense_Mutation_p.P509L	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	509					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATTATGTTCCTCTGTGTGCT	0.378000														70			28		0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44589357	44589357	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:44589357C>T	uc002lco.3	+	5	542	c.348C>T	c.(346-348)gaC>gaT	p.D116D	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	188						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAATCATTGACTTCCAAGGGC	0.443000														77			5		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167659311	167659311	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:167659311C>T	uc001gem.3	+	3	411	c.224C>T	c.(223-225)cCt>cTt	p.P75L	RCSD1_uc010pli.2_Missense_Mutation_p.P45L	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	75										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCGAGCCACCCTCCTAAATTC	0.438000														87			24		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236732404	236732404	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:236732404G>A	uc001hyd.2	-	28	4121	c.3969C>T	c.(3967-3969)atC>atT	p.I1323I	HEATR1_uc009xgh.2_Silent_p.I485I	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1323					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.I1323M(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAATAGACATGATATTGTGTA	0.313000														39			11		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905804	5905804	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5905804C>T	uc010qzs.2	+	0	282	c.282C>T	c.(280-282)atC>atT	p.I94I	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCAAGAGATCAGCTTTGGGG	0.458000														132			42		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814238	137814238	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:137814238G>A	uc002tva.1	+	1	295	c.295G>A	c.(295-297)Gag>Aag	p.E99K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCGGACTGCAGAGTGTGTGAC	0.537000														79			29		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680005	33680005	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:33680005C>T	uc002hjg.4	-	4	2323	c.2076G>A	c.(2074-2076)aaG>aaA	p.K692K	SLFN11_uc010ctr.3_Silent_p.K692K|SLFN11_uc010ctp.3_Silent_p.K692K|SLFN11_uc010ctq.3_Silent_p.K692K|SLFN11_uc002hjh.4_Silent_p.K692K	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	692						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGGCCACCCTTTGCTCTCC	0.483000														130			46		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530097	140530097	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140530097G>A	uc003lir.3	+	0	259	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	87	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGCTAAATGAAAAACTGGA	0.517000														100			34		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234601738	234601738	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:234601738C>A	uc002vuv.4	+	0	227	c.88C>A	c.(88-90)Ctg>Atg	p.L30M	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.L30M	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	31					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGACAAGCTGCTGGTGGTCCC	0.507000														89			32		1.06801e-11	1.08264e-11	1	1	0
RAB3GAP1	22930	broad.mit.edu	37	2	135920396	135920396	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:135920396C>T	uc010fnf.3	+	20	2508	c.2465C>T	c.(2464-2466)cCc>cTc	p.P822L	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.P822L|RAB3GAP1_uc010fng.3_Missense_Mutation_p.P647L|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	822						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTGCACTTCCCCAATCCAGAA	0.338000														81			27		0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853378	53853379	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:53853378_53853379CC>TT	uc011ldu.2	+	0	911_912	c.911_912CC>TT	c.(910-912)ccc>cTT	p.P304L		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	304					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGCCTCAACCCCTTCCTCTACG	0.653000														40			15		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174868954	174868954	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:174868954C>T	uc003mcz.3	-	1	2094	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K	DRD1_uc021yia.1_Silent_p.K383K	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	383					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GATTGCACTCCTTGGAGATGG	0.537000														84			33		0	0	1	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841164	4841164	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:4841164C>T	uc002fzo.2	-	7	1074	c.817G>A	c.(817-819)Gag>Aag	p.E273K	SLC25A11_uc002fzp.2_Missense_Mutation_p.E269K|SLC25A11_uc021tod.1_Missense_Mutation_p.E262K|SLC25A11_uc021toe.1_Missense_Mutation_p.E222K|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	273					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AAGAAGCCCTCGTAGCGGACA	0.607000														90			44		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17496568	17496568	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:17496568C>T	uc001mnc.3	-	1	281	c.155G>A	c.(154-156)gGa>gAa	p.G52E	ABCC8_uc010rcy.1_Missense_Mutation_p.G52E|ABCC8_uc021qej.1_Intron	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	52					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCTCTGACTTCCCCATCCTGC	0.582000														34			15		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139905958	139905958	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:139905958G>A	uc004ckm.1	-	36	5837	c.5787C>T	c.(5785-5787)gtC>gtT	p.V1929V	ABCA2_uc022bpy.1_Silent_p.V1830V|ABCA2_uc022bpz.1_Silent_p.V1900V|ABCA2_uc011mem.1_Silent_p.V1899V|ABCA2_uc004ckl.1_Silent_p.V1830V|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1899					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGAGCTGGGGACCTCGAACC	0.632000														7			4		0	0	1	0	0
C17orf98	388381	broad.mit.edu	37	17	36993474	36993474	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:36993474C>T	uc002hqv.2	-	1	227	c.227G>A	c.(226-228)aGg>aAg	p.R76K		NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	Homo sapiens chromosome 17 open reading frame 98 (C17orf98), mRNA.	76										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						CCAGCCATCCCTTCCTGTACC	0.532000														121			34		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144835047	144835047	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:144835047C>T	uc003qkt.3	+	34	5039	c.4947C>T	c.(4945-4947)aaC>aaT	p.N1649N		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1649	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTTGTAGAACCATCAGAACC	0.323000														54			21		0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54080838	54080838	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:54080838G>A	uc021vhn.1	-	0	1056	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Silent_p.F352F	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	352						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTAAAGAATGAAGCTCCCAT	0.443000														82			31		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10085076	10085076	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:10085076G>A	uc002mmq.1	-	45	3437	c.3351C>T	c.(3349-3351)gaC>gaT	p.D1117D		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1117	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGAGCCCCGTCTGCTCCCT	0.597000														32			12		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61847958	61847958	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:61847958G>A	uc001jky.3	-	28	3825	c.3487C>T	c.(3487-3489)Caa>Taa	p.Q1163*	ANK3_uc001jkw.3_Nonsense_Mutation_p.Q297*|ANK3_uc009xpa.3_Nonsense_Mutation_p.Q297*|ANK3_uc001jkx.3_Nonsense_Mutation_p.Q341*|ANK3_uc010qih.2_Nonsense_Mutation_p.Q1164*|ANK3_uc001jkz.4_Nonsense_Mutation_p.Q1157*|ANK3_uc001jla.1_Nonsense_Mutation_p.Q229*|ANK3_uc001jlb.1_Nonsense_Mutation_p.Q681*	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1163					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAGATGCTTGAACAAGGGGC	0.488000														88			31		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127640772	127640772	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:127640772G>A	uc003kuu.3	-	44	6116	c.5677C>T	c.(5677-5679)Cgc>Tgc	p.R1893C		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1893	EGF-like 31; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R1893C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATTCATTGCGATCTAAAACA	0.323000														19			9		0	0	1	0	0
ARMS2	387715	broad.mit.edu	37	10	124214296	124214296	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:124214296G>A	uc001lgi.3	+	0	118	c.53G>A	c.(52-54)gGg>gAg	p.G18E		NM_001099667	NP_001093137	P0C7Q2	ARMS2_HUMAN	Homo sapiens age-related maculopathy susceptibility 2 (ARMS2), nuclear gene encoding mitochondrial protein, mRNA.	18					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGGAAAGGAGGGCCTGAGATG	0.577000														97			34		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64521012	64521012	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:64521012G>A	uc001oax.4	-	10	2199	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	PYGM_uc001oay.4_Missense_Mutation_p.S373F	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	461					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GAGGATCTCGGAGTGGATGCG	0.652000														14			4		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486494	65486494	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:65486494C>T	uc011moz.2	+	20	3756	c.3619C>T	c.(3619-3621)Ctt>Ttt	p.L1207F	HEPH_uc004dwn.3_Missense_Mutation_p.L1155F|HEPH_uc004dwo.3_Missense_Mutation_p.L886F|HEPH_uc010nkr.3_Missense_Mutation_p.L964F|HEPH_uc011mpa.2_Missense_Mutation_p.L1156F	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1153					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGCTTCAAGCTTCTGTCTTT	0.507000														25			17		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540286	55540286	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:55540286C>T	uc003xsd.1	+	3	3992	c.3844C>T	c.(3844-3846)Cct>Tct	p.P1282S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1282					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACTTTTTTTCCTAGTGATGG	0.408000														145			79		0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446457	169446457	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:169446457G>A	uc001gge.4	-	1	947	c.743C>T	c.(742-744)cCt>cTt	p.P248L	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	248					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CTCCCAGCCAGGAAGGTGGTT	0.468000														98			42		0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22343421	22343421	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:22343421G>A	uc002dkk.3	+	19	2141	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	POLR3E_uc002dkm.3_Missense_Mutation_p.R626Q|POLR3E_uc010vbr.2_Intron|POLR3E_uc002dkl.3_Intron|POLR3E_uc010vbs.2_Missense_Mutation_p.R626Q|POLR3E_uc010vbt.2_Missense_Mutation_p.R606Q	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	662					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AAAAATTACCGGGTACGCCGA	0.398000														91			37		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023211	76023211	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:76023211G>A	uc010kbe.3	-	5	2876	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	FILIP1_uc003phy.1_Silent_p.S779S|FILIP1_uc003phz.3_Silent_p.S680S|FILIP1_uc003pia.3_Silent_p.S779S|FILIP1_uc003pib.1_Silent_p.S531S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	779										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTAGCGCTTGGAAAGCTCCA	0.443000														103			54		0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92509065	92509065	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:92509065G>A	uc001kha.3	-	1	1069	c.826C>T	c.(826-828)Cct>Tct	p.P276S	HTR7_uc001kgz.3_Missense_Mutation_p.P276S|HTR7_uc001khb.3_Missense_Mutation_p.P276S	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	276					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GGGAAGCCAGGAAACTTGTGT	0.512000														56			20		0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784838	130784838	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:130784838G>A	uc001qgk.4	-	0	1545	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.H333Y|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	333					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACAGCTTCGTGGCCTTCTTCA	0.507000														81			24		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933057	39933057	+	Silent	SNP	T	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:39933057T>C	uc004den.4	-	3	1834	c.1542A>G	c.(1540-1542)ccA>ccG	p.P514P	BCOR_uc004dep.4_Silent_p.P514P|BCOR_uc004deo.4_Silent_p.P514P|BCOR_uc004dem.4_Silent_p.P514P|BCOR_uc004deq.4_Silent_p.P514P	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	514	Interaction with BCL6.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGTTAGGACTTGGCCCGGGCA	0.507000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							35			17		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	1968969	1968969	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:1968969G>A	uc002fub.1	-	16	3895	c.3840C>T	c.(3838-3840)atC>atT	p.I1280I	SMG6_uc010vqv.1_Silent_p.I372I|SMG6_uc002fud.2_Silent_p.I1249I	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	1280	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAGCTCATTGATCACTGATG	0.582000														25			10		0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168467458	168467458	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:168467458G>A	uc003qwo.4	-	3	503	c.438C>T	c.(436-438)taC>taT	p.Y146Y	FRMD1_uc003qwm.4_5'Flank|FRMD1_uc011egs.2_5'UTR|FRMD1_uc011egt.2_Silent_p.Y58Y|FRMD1_uc003qwn.4_Silent_p.Y78Y	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	146	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGTTTTCCACGTAGTGCTGCA	0.547000														34			27		0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157693921	157693921	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:157693921C>T	uc003iph.2	-	3	1111	c.620G>A	c.(619-621)aGa>aAa	p.R207K	PDGFC_uc003ipi.2_Missense_Mutation_p.R44K|PDGFC_uc011cis.2_Missense_Mutation_p.R44K|PDGFC_uc011cir.2_Missense_Mutation_p.R51K	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	207					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CAACTGCCATCTCTCTGGTTC	0.438000														60			20		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34867067	34867067	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:34867067C>T	uc003teh.1	+	4	661	c.533C>T	c.(532-534)tCc>tTc	p.S178F	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.S178F|NPSR1_uc010kwt.1_Missense_Mutation_p.S25F|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S112F|NPSR1_uc003tei.1_Missense_Mutation_p.S178F|NPSR1_uc010kww.1_Missense_Mutation_p.S167F|NPSR1_uc011kar.1_Missense_Mutation_p.S112F|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	178						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTTCTGTTCTCCATTCCCACC	0.522000														58			18		0	0	1	0	0
RPL18A	6142	broad.mit.edu	37	19	17972151	17972151	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:17972151A>C	uc002nhp.2	+	1	103	c.68A>C	c.(67-69)cAc>cCc	p.H23P	SNORA68_uc002nhq.1_5'Flank	NM_000980	NP_000971	Q02543	RL18A_HUMAN	Homo sapiens ribosomal protein L18a (RPL18A), mRNA.	23					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCCAAATGCCACACGCCGCCC	0.547000														26			8		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784482	9784482	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:9784482G>A	uc003gmb.4	+	0	1225	c.829G>A	c.(829-831)Gcc>Acc	p.A277T		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	277					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GAGCAGCGCAGCCTGCGCGCC	0.642000														54			14		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108409770	108409770	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:108409770G>A	uc001pkk.3	-	2	535	c.424C>T	c.(424-426)Cca>Tca	p.P142S	EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	142					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCCAGTGATGGAAGCTTTGAA	0.443000														47			63		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139824491	139824491	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:139824491G>A	uc003vvm.3	-	6	985	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	327	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 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			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TATCTCCAAAGAACACCTCAC	0.393000														47			21		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424836	125424836	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:125424836C>T	uc022bmz.1	+	0	842	c.842C>T	c.(841-843)aCt>aTt	p.T281I		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ACCGTACTGACTCCTATGCTA	0.393000														69			45		0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50330257	50330257	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:50330257C>T	uc003czb.3	-	1	48	c.48G>A	c.(46-48)gaG>gaA	p.E16E	IFRD2_uc011bdp.2_5'Flank	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	228							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACAGCCAAACCTCAGGCAGTG	0.537000														58			18		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129507	10129507	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:10129507C>T	uc002mmr.3	+	2	612	c.363C>T	c.(361-363)ctC>ctT	p.L121L		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	121					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CTGTCCGTCTCGTCAAAGCTG	0.592000														102			34		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248085113	248085113	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:248085113C>T	uc010pzc.2	+	0	794	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S265Y(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCCACAGGTCCACTAACCAC	0.493000														114			75		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502829	20502829	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:20502829C>T	uc010tkz.2	-	0	89	c.89G>A	c.(88-90)gGa>gAa	p.G30E		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CACAGAGAATCCCAAGAAGAA	0.398000														38			21		0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155153624	155153624	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:155153624C>T	uc003qqa.3	+	20	3143	c.2911C>T	c.(2911-2913)Cct>Tct	p.P971S	TIAM2_uc003qqb.3_5'Flank|SCAF8_uc011efj.2_Missense_Mutation_p.P1037S|SCAF8_uc011efk.2_Missense_Mutation_p.P1016S|SCAF8_uc003qpz.3_Missense_Mutation_p.P971S|SCAF8_uc010kji.3_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	971	Pro-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TGGACCTTTTCCTCCAGGAGA	0.463000														156			65		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629578	1629578	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:1629578C>T	uc001ltw.1	-	0	116	c.38G>A	c.(37-39)aGc>aAc	p.S13N	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	13						keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GCCCCCACAGCTGGAGCCACA	0.662000														134			57		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193220362	193220362	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:193220362A>T	uc003ftd.3	-	2	409	c.301T>A	c.(301-303)Ttt>Att	p.F101I	ATP13A4_uc003fte.1_Missense_Mutation_p.F101I|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	101					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTGAGACCAAATGCGCTGTTT	0.403000														85			35		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47046714	47046714	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:47046714C>T	uc003cqp.3	+	39	6642	c.6463C>T	c.(6463-6465)Cac>Tac	p.H2155Y	NBEAL2_uc010hjm.2_Missense_Mutation_p.H1532Y|NBEAL2_uc010hjn.2_Missense_Mutation_p.H551Y	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2155	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGACAAGTTCCACTATGGCAC	0.602000														49			16		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485953	8485953	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:8485953G>A	uc003zkk.3	-	27	3607	c.2864C>T	c.(2863-2865)aCc>aTc	p.T955I	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	955	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATAAAGAAGGGTATACTTGGT	0.478000										TSP Lung(15;0.13)				69			27		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401009	11401009	+	Silent	SNP	G	A	A	rs139094851		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:11401009G>A	uc003gmq.3	-	1	944	c.621C>T	c.(619-621)ttC>ttT	p.F207F	HS3ST1_uc021xmg.1_Silent_p.F207F	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	207						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.F207F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGCGCAGCGGGAAAAAGCGCA	0.597000														27			17		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64949039	64949039	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:64949039T>G	uc001jmn.3	-	17	6759	c.6459A>C	c.(6457-6459)ttA>ttC	p.L2153F	JMJD1C_uc001jml.3_Missense_Mutation_p.L1916F|JMJD1C_uc001jmm.3_Missense_Mutation_p.L1865F|JMJD1C_uc010qiq.2_Missense_Mutation_p.L1971F|JMJD1C_uc009xpi.3_Missense_Mutation_p.L1971F|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmo.3_Missense_Mutation_p.L60F	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	2153					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATCACTGTATAATTTATTAT	0.323000														65			41		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764222	77764222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:77764222C>T	uc003yau.2	+	9	5452	c.5065C>T	c.(5065-5067)Cag>Tag	p.Q1689*	ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q1644*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1644	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q1689E(2)|p.P1688T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCACCCACCACAGTCACCAGC	0.418000										HNSCC(33;0.089)				88			30		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139741542	139741542	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:139741542C>T	uc003vvl.1	-	5	1958	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	362						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ACAGAGGAGGCCGTGGAGAGG	0.517000														162			76		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9792763	9792763	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:9792763G>A	uc002gmd.1	+	12	1403	c.1403G>A	c.(1402-1404)gGg>gAg	p.G468E		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	468					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGTGTCCTGGGGAAGGACTTC	0.592000														64			36		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907842	23907842	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:23907842G>T	uc001uon.2	-	9	10762	c.10173C>A	c.(10171-10173)ttC>ttA	p.F3391L	SACS_uc001uoo.2_Missense_Mutation_p.F3244L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3391					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATTGCAGTTGAAATACATCA	0.348000														86			32		1.06801e-11	1.08264e-11	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121758871	121758871	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:121758871G>A	uc003ksw.1	+	3	645	c.439G>A	c.(439-441)Gac>Aac	p.D147N	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.D147N|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.D194N|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.D147N	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	147					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGAGCACTACGACCTCGACAT	0.537000														85			31		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183574952	183574952	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:183574952G>A	uc003ivd.1	+	4	1092	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	339					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCAACTGGCAGCTACAGCAGA	0.428000														20			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769113	13769113	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:13769113C>T	uc003jfd.2	-	57	9895	c.9853G>A	c.(9853-9855)Gaa>Aaa	p.E3285K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3285	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L3284L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGCTGCTTCCAGTTTTTCT	0.468000									Kartagener syndrome					151			57		0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49218575	49218575	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:49218575C>T	uc001jgd.3	-	7	1723	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		TCCTTCTCTTCCCTCGTGGAC	0.547000														54			52		0	0	1	0	0
DEFB119	245932	broad.mit.edu	37	20	29976852	29976852	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:29976852C>T	uc002wvu.1	-	1	363	c.243G>A	c.(241-243)atG>atA	p.M81I	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	0					defense response to bacterium	extracellular region		p.M81I(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TATTTGTCTTCATTTTTGGAG	0.383000														51			14		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245442	46245442	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:46245442A>T	uc001ros.1	+	14	3536	c.3536A>T	c.(3535-3537)aAt>aTt	p.N1179I	ARID2_uc001ror.3_Missense_Mutation_p.N1179I|ARID2_uc009zkg.1_Missense_Mutation_p.N635I|ARID2_uc009zkh.1_Missense_Mutation_p.N806I|ARID2_uc001rou.1_Missense_Mutation_p.N513I	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1179					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTTGTGCCAAATACGAGTTTT	0.473000			"""N, S, F"""		hepatocellular carcinoma									90			32		0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37011993	37011993	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:37011993C>T	uc001uvr.4	+	2	875	c.525C>T	c.(523-525)ttC>ttT	p.F175F	CCNA1_uc010teo.2_Silent_p.F131F|CCNA1_uc010abq.3_Silent_p.F131F|CCNA1_uc010abp.3_Silent_p.F131F|CCNA1_uc001uvs.4_Silent_p.F174F|CCNA1_uc010abr.3_Intron	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	175					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACCTGCACTTCCTGCTGGATT	0.493000														109			49		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48713417	48713417	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:48713417G>A	uc003xqi.3	-	71	10107	c.10050C>T	c.(10048-10050)atC>atT	p.I3350I	PRKDC_uc003xqj.3_Silent_p.I3350I	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3351	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTCCTCCTCGATTTCAGCAA	0.458000								Non-homologous end-joining						19			7		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182363375	182363375	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:182363375T>A	uc002unu.3	+	14	2329	c.1566T>A	c.(1564-1566)gaT>gaA	p.D522E	ITGA4_uc010frj.1_Missense_Mutation_p.D4E	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	522					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGAGTTTGGATGTGAACAGAA	0.333000														43			21		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153476	139153476	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:139153476C>T	uc003yuy.3	-	16	3926	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E	FAM135B_uc003yux.3_Missense_Mutation_p.G1153E|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1252								p.G1252V(3)|p.G1252E(3)|p.L1251L(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTACAGGGTTCCCAGGTGAGG	0.537000										HNSCC(54;0.14)				49			18		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672307	26672307	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:26672307C>T	uc001bmd.4	-	1	992	c.842G>A	c.(841-843)gGg>gAg	p.G281E		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 6.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTCTGCTGTCCCGGTCTCAGG	0.662000														8			11		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586312	169586312	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:169586312C>T	uc001ggi.4	-	2	500	c.435G>A	c.(433-435)tgG>tgA	p.W145*	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Nonsense_Mutation_p.W145*	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	145	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCTCATCATTCCACTTGCCAG	0.448000														135			53		0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158541955	158541955	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:158541955C>T	uc003fcl.2	+	12	1445	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	MFSD1_uc011bow.2_Silent_p.I416I|MFSD1_uc003fcm.2_Non-coding_Transcript|MFSD1_uc003fcn.2_Silent_p.I309I	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Homo sapiens major facilitator superfamily domain containing 1 (MFSD1), transcript variant 1, mRNA.	406					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCATTTCCATCATTGCTGGTA	0.378000														339			125		0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48088624	48088624	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:48088624G>A	uc003gxx.4	-	9	901	c.815C>T	c.(814-816)gCt>gTt	p.A272V		NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	272	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTTTATAAAAGCCAACTCAGA	0.403000														67			25		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50054462	50054462	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:50054462C>T	uc004dox.4	+	5	3591	c.3293C>T	c.(3292-3294)cCt>cTt	p.P1098L	CCNB3_uc004doy.3_Missense_Mutation_p.P1098L|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1098					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTGATAAACCTGTCTCACCA	0.473000														26			27		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190365	32190365	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:32190365G>A	uc003obb.3	-	2	513	c.374C>T	c.(373-375)tCc>tTc	p.S125F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.S125F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	125	EGF-like 3.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAACAGAAGGAGGGAGGACA	0.617000														82			26		0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43783428	43783428	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:43783428G>A	uc002zax.1	-	1	214	c.174C>T	c.(172-174)ttC>ttT	p.F58F		NM_003225	NP_003216	P04155	TFF1_HUMAN	Homo sapiens trefoil factor 1 (TFF1), mRNA.	58	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						CGGTGTCGTCGAAACAGCAGC	0.517000														54			20		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19341013	19341013	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:19341013G>A	uc002zpf.1	-	22	2934	c.2714C>T	c.(2713-2715)tCc>tTc	p.S905F	HIRA_uc011agx.1_Missense_Mutation_p.S771F|HIRA_uc010grn.1_Missense_Mutation_p.S698F|HIRA_uc010gro.2_Missense_Mutation_p.S861F|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	905	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ATGAGGCACGGAGAAGAGCCG	0.622000														23			9		0	0	1	0	0
CHP1	11261	broad.mit.edu	37	15	41571573	41571573	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:41571573C>T	uc001znl.3	+	6	718	c.574C>T	c.(574-576)Cga>Tga	p.R192*	CHP1_uc021sjk.1_Non-coding_Transcript|CHP1_uc021sjl.1_Non-coding_Transcript	NM_007236	NP_009167	Q99653	CHP1_HUMAN	Homo sapiens calcium binding protein P22 (CHP), mRNA.	192					potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										AATGAGCATCCGATTTCTTCA	0.443000														32			16		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364133	5364133	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5364133C>T	uc001map.1	-	0	622	c.622G>A	c.(622-624)Gat>Aat	p.D208N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.D208N	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCAGATAATCCAGCACAAAT	0.468000														87			28		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120769326	120769326	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:120769326C>T	uc001pxn.2	+	11	1537	c.1250C>T	c.(1249-1251)aCc>aTc	p.T417I	GRIK4_uc009zav.1_Missense_Mutation_p.T417I|GRIK4_uc009zaw.1_Missense_Mutation_p.T417I|GRIK4_uc009zax.1_Missense_Mutation_p.T417I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	417					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTCAACACCACCCTGGTCGTC	0.627000														30			7		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345657	124345657	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:124345657C>T	uc001lgk.1	+	15	1647	c.1541C>T	c.(1540-1542)tCc>tTc	p.S514F	DMBT1_uc001lgl.1_Missense_Mutation_p.S504F|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.S514F|DMBT1_uc021qag.1_Missense_Mutation_p.S504F|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.S514F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	514	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCGAGGCTCCTGGGGCACC	0.587000														138			155		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56085954	56085954	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56085954C>T	uc010rjf.2	+	0	172	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T57N(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTTGCAAACCCCTATGTACTT	0.403000														143			39		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033958	52033958	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:52033958C>T	uc002pwy.3	-	2	891	c.683G>A	c.(682-684)aGa>aAa	p.R228K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.R228K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.R192K|SIGLEC6_uc010ydc.2_Missense_Mutation_p.R228K|SIGLEC6_uc002pxa.3_Missense_Mutation_p.R228K|SIGLEC6_uc010eoz.2_Missense_Mutation_p.R217K|SIGLEC6_uc010epa.2_Missense_Mutation_p.R217K|SIGLEC6_uc010epb.2_Missense_Mutation_p.R181K	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	228	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTGGATGGTTCTCTCCATGGT	0.632000														84			38		0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663283	71663283	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:71663283G>A	uc002fau.3	+	1	544	c.481G>A	c.(481-483)Gag>Aag	p.E161K	MARVELD3_uc002fas.1_Missense_Mutation_p.E161K|MARVELD3_uc002fat.3_Missense_Mutation_p.E161K|MARVELD3_uc010cge.3_Silent_p.R106R	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	161	Pro-rich.					integral to membrane		p.S160L(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ACCCCCTTCGGAGAGATATCT	0.507000														50			17		0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42748973	42748973	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:42748973C>T	uc002yzf.1	+	1	244	c.140C>T	c.(139-141)cCa>cTa	p.P47L	MX2_uc011aer.1_Non-coding_Transcript	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	47					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ATGTTTCCTCCAAACTGGCAG	0.483000														123			51		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187680	58187680	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:58187680C>T	uc002qpu.3	+	2	864	c.167C>T	c.(166-168)tCa>tTa	p.S56L		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	56	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCAATAATTCATATGCAAGG	0.403000														92			28		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43926841	43926841	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:43926841C>T	uc003bdy.2	-	30	4551	c.4237G>A	c.(4237-4239)Gaa>Aaa	p.E1413K	EFCAB6_uc003bdz.2_Missense_Mutation_p.E1261K|EFCAB6_uc010gzi.2_Missense_Mutation_p.E1261K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1413	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCGCCGGCTTCTTTCTAGACA	0.592000														53			27		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38958577	38958577	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:38958577G>A	uc003jlo.2	-	23	2410	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	RICTOR_uc003jlp.2_Silent_p.H796H|RICTOR_uc010ivf.2_Silent_p.H511H	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	796					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding	p.H796N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTCTCCAAGGTGGGATAACG	0.318000														54			23		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332969	70332969	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:70332969G>A	uc001oqc.3	-	20	3343	c.3231C>T	c.(3229-3231)tcC>tcT	p.S1077S	SHANK2_uc010rqn.2_Silent_p.S553S|SHANK2_uc001opz.3_Silent_p.S548S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	764					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGGCATGGGGGATGACAGCT	0.682000														22			38		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896967	48896967	+	Missense_Mutation	SNP	G	A	A	rs148943401	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:48896967G>A	uc002rwp.2	+	8	3311	c.3197G>A	c.(3196-3198)gGa>gAa	p.G1066E	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.G1066E|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.G1019E|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.G362E|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.G328E	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1019					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAGAAATAGGAAGTACAAGA	0.383000														102			29		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5719637	5719637	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5719637G>A	uc001mbr.3	+	3	991	c.612G>A	c.(610-612)aaG>aaA	p.K204K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Silent_p.K172K|TRIM22_uc010qzm.2_Silent_p.K32K|TRIM22_uc009yes.3_Silent_p.K200K	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	204					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGCTGCAAAAGCTGGAGGAAG	0.498000														55			19		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553749	19553749	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:19553749G>A	uc001vuz.1	+	0	385	c.333G>A	c.(331-333)ggG>ggA	p.G111G	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	111								p.R110W(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTGCAGGGGGAGCGGCAAGA	0.597000														839			38		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239578	126239578	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:126239578C>T	uc003ifj.4	+	0	2012	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	671	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCCAGTCATCAATGGCTCGC	0.488000														87			25		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230571	46230571	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:46230571C>T	uc001ros.1	+	7	820	c.820C>T	c.(820-822)Cga>Tga	p.R274*	ARID2_uc001ror.3_Nonsense_Mutation_p.R274*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	274					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCATCCACCTCGAAAGCTGGG	0.363000			"""N, S, F"""		hepatocellular carcinoma									59			36		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6045616	6045616	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:6045616G>A	uc003spl.3	-	1	157	c.70C>T	c.(70-72)Cat>Tat	p.H24Y	PMS2_uc003spj.3_5'Flank|PMS2_uc003spk.3_5'UTR|PMS2_uc011jwl.2_Intron|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.H24Y|PMS2_uc010ktf.2_Missense_Mutation_p.H24Y	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	24					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAAATCTGATGGACTGACTTC	0.408000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					216			77		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52547738	52547738	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:52547738C>T	uc003dej.3	+	30	3350	c.3276C>T	c.(3274-3276)gtC>gtT	p.V1092V		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1092	FAS1 3.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCAGAGGGTCTGGGTGCAGA	0.607000														32			17		0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132637876	132637876	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:132637876G>A	uc004bys.2	+	20	2467	c.2256G>A	c.(2254-2256)ctG>ctA	p.L752L	USP20_uc004byr.2_Silent_p.L752L|USP20_uc004byt.1_Silent_p.L752L	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	752	DUSP 1.				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)				TCGACGACCTGGTGGTCATCC	0.637000														54			34		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15376339	15376339	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:15376339G>A	uc002nar.3	-	4	897	c.675C>T	c.(673-675)ttC>ttT	p.F225F	BRD4_uc002nas.3_Silent_p.F225F|BRD4_uc002nat.3_Silent_p.F225F|BRD4_uc002nau.4_Silent_p.F225F	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	225					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGACGGCAGGGAAGGGGTGAG	0.657000			T	C15orf55	lethal midline carcinoma of young people									140			57		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666900	11666900	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:11666900G>T	uc002gne.3	+	35	7207	c.7139G>T	c.(7138-7140)tGg>tTg	p.W2380L	DNAH9_uc010coo.3_Missense_Mutation_p.W1674L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2380					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGCCATCTGGGCTTTCGGC	0.468000														41			21		1.96292e-10	1.98399e-10	1	1	0
PCLO	27445	broad.mit.edu	37	7	82581373	82581373	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:82581373G>A	uc003uhx.2	-	4	9185	c.8896C>T	c.(8896-8898)Cgt>Tgt	p.R2966C	PCLO_uc003uhv.2_Missense_Mutation_p.R2966C|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2897					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R2897C(1)|p.R2966C(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAACCAAAACGATCCTCAGGA	0.463000														139			45		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160953678	160953678	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:160953678G>A	uc003qtl.3	-	38	5966	c.5846C>T	c.(5845-5847)aCc>aTc	p.T1949I		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4457	Kringle 17.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTCCCAAAGGTACCTGTGTT	0.453000														46			11		0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85598217	85598217	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:85598217C>T	uc010ysn.2	+	6	711	c.369C>T	c.(367-369)atC>atT	p.I123I	ELMOD3_uc010fgg.2_Non-coding_Transcript|ELMOD3_uc002spf.4_Silent_p.I123I|ELMOD3_uc002spg.4_Silent_p.I123I|ELMOD3_uc002sph.4_Silent_p.I123I|ELMOD3_uc010yso.2_Non-coding_Transcript|ELMOD3_uc010ysp.2_Non-coding_Transcript	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	Homo sapiens ELMO/CED-12 domain containing 3 (ELMOD3), transcript variant 1, mRNA.	123					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGAAAAGAATCCAGCCAACTA	0.557000														170			74		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341880	31341880	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:31341880C>T	uc002ebr.3	+	27	3331	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F	ITGAM_uc002ebq.3_Missense_Mutation_p.S1077F|ITGAM_uc010can.3_Missense_Mutation_p.S483F	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	1077					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTTAACGATTCCGTGTTCACC	0.607000														23			10		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747261	19747261	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:19747261C>T	uc003jgd.3	-	3	847	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CDH18_uc011cnm.2_Missense_Mutation_p.D105N|CDH18_uc003jgc.3_Missense_Mutation_p.D105N|CDH18_uc021xwu.1_Missense_Mutation_p.D105N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	105	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D104_D105>EY(3)|p.D105Y(3)|p.D104E(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCGTGGTATCGTCAATGATA	0.438000														73			34		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132401997	132401997	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:132401997C>T	uc001uje.3	+	21	2492	c.2224C>T	c.(2224-2226)Cgt>Tgt	p.R742C		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	742					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCAGGAGCCCGTGCTGGGGG	0.706000														5			4		0	0	1	0	0
CTSO	1519	broad.mit.edu	37	4	156864341	156864341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:156864341G>A	uc003ipg.3	-	1	260	c.211C>T	c.(211-213)Cag>Tag	p.Q71*		NM_001334	NP_001325	P43234	CATO_HUMAN	Homo sapiens cathepsin O (CTSO), mRNA.	71					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TAGGAAAACTGATTTATTCCA	0.318000														124			37		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55264214	55264214	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:55264214C>T	uc003pcm.1	+	7	1182	c.1096C>T	c.(1096-1098)Ctt>Ttt	p.L366F		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	366						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGTGGAATCCTTCTGTTGGT	0.373000														55			19		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761046	61761046	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:61761046G>A	uc002eog.2	-	8	2443	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	CDH8_uc002eoh.3_Silent_p.F265F	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	496	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F496F(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTCGGATGCGAATTCAGGGG	0.398000														119			49		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429699	135429699	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:135429699C>T	uc004ezu.1	+	5	4125	c.3834C>T	c.(3832-3834)tcC>tcT	p.S1278S	GPR112_uc010nsb.1_Silent_p.S1073S|GPR112_uc010nsc.1_Silent_p.S1045S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1278					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGAAATGTCCCCATCAAAGA	0.433000														61			34		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005756	120005756	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:120005756G>A	uc002tlp.3	+	3	1151	c.994G>A	c.(994-996)Gac>Aac	p.D332N	STEAP3_uc002tlq.3_Missense_Mutation_p.D342N|STEAP3_uc002tlr.3_Missense_Mutation_p.D332N|STEAP3_uc010fle.3_Missense_Mutation_p.D332N	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	332	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCACCGCTACGACCTGGTCAA	0.657000														48			13		0	0	1	0	0
DLX2	1746	broad.mit.edu	37	2	172966369	172966369	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:172966369C>T	uc002uhn.3	-	1	618	c.406G>A	c.(406-408)Gag>Aag	p.E136K	DLX2_uc010zdx.1_Missense_Mutation_p.E136K	NM_004405	NP_004396	Q07687	DLX2_HUMAN	Homo sapiens distal-less homeobox 2 (DLX2), mRNA.	136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCAAGGTCCTCCTTCTCTGCA	0.582000														68			18		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868628	150868628	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:150868628G>A	uc022cgt.1	+	3	217	c.168_splice	c.e3+1	p.T56_splice	PRRG3_uc004few.2_Splice_Site_p.T56_splice	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	56	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGAAAACGGCATGTACCA	0.542000														32			26		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640125	7640125	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:7640125C>T	uc001qsz.3	-	7	2008	c.1880G>A	c.(1879-1881)gGa>gAa	p.G627E	CD163_uc001qta.3_Missense_Mutation_p.G627E|CD163_uc009zfw.2_Missense_Mutation_p.G660E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	627	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAGGGCAACTCCACATTTAAG	0.517000														108			43		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103787	53103787	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:53103787C>T	uc003tpz.3	+	0	439	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	141										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCATCGGGATCGCGCCCCCTG	0.716000														40			17		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33464970	33464970	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:33464970G>A	uc003zsz.3	-	20	2787	c.2686C>T	c.(2686-2688)Ccc>Tcc	p.P896S	NOL6_uc003zsy.3_5'UTR|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.P893S|NOL6_uc011lob.2_Missense_Mutation_p.P844S|NOL6_uc003ztb.1_Missense_Mutation_p.P896S	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	896					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCAACCTGGGGGGAACTAAAG	0.512000														31			21		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453437	53453437	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:53453437G>A	uc002qal.2	-	4	1942	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.H531Y|ZNF816_uc002qam.2_Missense_Mutation_p.H531Y	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCCCCAGTATGAATTCTCCTA	0.413000														128			33		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081732	143081732	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:143081732G>A	uc003qjd.3	-	8	6436	c.5693C>T	c.(5692-5694)tCc>tTc	p.S1898F		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTCAGCATCGGAGAACTGATG	0.388000														38			12		0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128204728	128204728	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:128204728G>A	uc003ekm.3	-	3	1148	c.713C>T	c.(712-714)aCc>aTc	p.T238I	GATA2_uc003ekn.3_Missense_Mutation_p.T238I|GATA2_uc003eko.2_Missense_Mutation_p.T238I	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	238					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGCAGGCTGGGTGCCCATAGT	0.632000			Mis		AML(CML blast transformation)									41			17		0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884616	53884616	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:53884616C>T	uc010eqn.3	+	3	869	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						TGCACGCCATCGTAGATGTCA	0.403000														89			29		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462631	5462631	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5462631C>T	uc010qze.2	-	0	153	c.114G>A	c.(112-114)atG>atA	p.M38I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGGAGATCATGTAGAGGA	0.522000														111			42		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56814369	56814369	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:56814369G>A	uc001slf.2	-	25	3380	c.3212C>T	c.(3211-3213)cCc>cTc	p.P1071L		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	1071					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGAGGCAGGGGGCCGAACCCC	0.522000														87			28		0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38465046	38465046	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:38465046G>A	uc001cck.3	-	1	218	c.39C>T	c.(37-39)tcC>tcT	p.S13S	FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Silent_p.S13S	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	13					muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCCATACAGGGACTCGTTGC	0.542000														52			20		0	0	1	0	0
ATPBD4	89978	broad.mit.edu	37	15	35830584	35830584	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:35830584G>A	uc001zja.3	-	2	265	c.203C>T	c.(202-204)cCc>cTc	p.P68L	ATPBD4_uc001zjb.2_Missense_Mutation_p.P68L	NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN	Homo sapiens ATP binding domain 4 (ATPBD4), transcript variant 1, mRNA.	68										endometrium(1)|kidney(1)|lung(9)	11		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		GCGATAGAGGGGAAGAGCCAT	0.443000														95			37		0	0	1	0	0
PABPC1P2	728773	broad.mit.edu	37	2	147346349	147346349	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:147346349G>A	uc002twf.4	+	0	1725	c.809G>A	c.(808-810)tGa>tAa	p.*270*						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		TTCCAAATATGACCTGTGCTA	0.498000														43			12		0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27147251	27147251	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:27147251G>A	uc001mre.1	+	7	1255	c.887G>A	c.(886-888)aGg>aAg	p.R296K	BBOX1_uc009yih.1_Missense_Mutation_p.R296K|BBOX1_uc001mrg.1_Missense_Mutation_p.R296K|BBOX1_uc021qfd.1_Missense_Mutation_p.R296K	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	296					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	aacgcaactagggacacaata	0.343000														29			8		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315607	30315607	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:30315607G>A	uc009xle.2	-	2	3607	c.3470C>T	c.(3469-3471)cCt>cTt	p.P1157L	KIAA1462_uc001iux.3_Missense_Mutation_p.P1157L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P1019L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1157										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TACAAAGAGAGGGCTCTTGGT	0.607000														116			41		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7218091	7218091	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:7218091G>A	uc009xio.2	-	16	1936	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	SFMBT2_uc001ijn.2_Silent_p.I615I|SFMBT2_uc010qay.2_Silent_p.I450I	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	615					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATGTCCGTACGATTTTGACCA	0.453000														81			31		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54304614	54304614	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:54304614C>T	uc002qcj.4	-	6	2846	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	NLRP12_uc010eqw.3_Missense_Mutation_p.E158K|NLRP12_uc002qch.4_Missense_Mutation_p.E875K|NLRP12_uc002qci.4_Missense_Mutation_p.E875K|NLRP12_uc002qck.4_Intron|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	875					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.E875*(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGGCCAGCTCGTCACAGGCA	0.527000														30			12		0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7436358	7436358	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:7436358C>T	uc011bwj.2	-	0	343	c.249G>A	c.(247-249)acG>acA	p.T83T	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	83	Saposin B-type 1.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TGTCAGACTCCGTGGCGTCAG	0.607000														22			8		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924123	105924123	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:105924123G>A	uc002tcq.3	-	1	720	c.636C>T	c.(634-636)atC>atT	p.I212I	TGFBRAP1_uc002tcr.4_Silent_p.I212I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	212	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCCTCTTGACGATCGGCGGCC	0.592000														166			55		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117639383	117639383	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:117639383C>T	uc003pxp.1	-	36	6172	c.5973G>A	c.(5971-5973)aaG>aaA	p.K1991K	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Silent_p.K317K	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1991	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGAATTCAATCTTCTCCTGGT	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									37			10		0	0	1	0	0
CDC40	51362	broad.mit.edu	37	6	110550068	110550068	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:110550068A>G	uc003pua.3	+	13	1512	c.1451A>G	c.(1450-1452)cAa>cGa	p.Q484R		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	484					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)		ATGGACAACCAAATCTTAATT	0.303000														26			8		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882796	228882796	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:228882796C>T	uc002vpq.2	-	6	2821	c.2774G>A	c.(2773-2775)tGc>tAc	p.C925Y	SPHKAP_uc002vpp.2_Missense_Mutation_p.C925Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.C925Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	925						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTCTGTAATGCAGTAGATGTC	0.483000														161			50		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120797766	120797766	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:120797766G>A	uc001ldu.3	-	19	3858	c.3712C>T	c.(3712-3714)Cgc>Tgc	p.R1238C	EIF3A_uc010qsu.2_Missense_Mutation_p.R1204C|EIF3A_uc009xzg.1_Missense_Mutation_p.R277C	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1238	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTCTGAAGCGATCCTCTCGA	0.493000														45			23		0	0	1	0	0
RNF34	80196	broad.mit.edu	37	12	121858580	121858580	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:121858580C>T	uc001uak.1	+	6	1108	c.931_splice	c.e6+1	p.Y311_splice	RNF34_uc001ual.1_Splice_Site_p.Y310_splice	NM_194271	NP_919247	Q969K3	RNF34_HUMAN	Homo sapiens ring finger protein 34 (RNF34), transcript variant 1, mRNA.	310					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		ACCAAAAGTCCTGTAGGTTTA	0.328000														76			25		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874743	24874743	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:24874743G>A	uc001isb.2	-	25	4962	c.4475C>T	c.(4474-4476)tCa>tTa	p.S1492L	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1491					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTTCCTAGTGATATCTTTTC	0.438000														200			72		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325397	152325397	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:152325397C>T	uc001ezw.4	-	2	4938	c.4865G>A	c.(4864-4866)gGa>gAa	p.G1622E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1622							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTATCTGTCCATGAGTAGT	0.507000														388			118		0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75053355	75053355	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:75053355G>A	uc003udk.4	-	11	1910	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	584	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAGGCTCGGGGGAGTCTGCAT	0.632000														131			32		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272868	52272868	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:52272868C>T	uc002pxr.3	+	1	1002	c.957C>T	c.(955-957)acC>acT	p.T319T	FPR2_uc002pxs.4_Silent_p.T319T|FPR2_uc010epf.3_Silent_p.T319T|FPR2_uc021uyp.1_Silent_p.T319T	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	319					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CCCTGCCCACCAGTCTGGAGA	0.562000														84			36		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19573100	19573100	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:19573100G>A	uc001vuz.1	+	8	1250	c.1198_splice	c.e8-1	p.E400_splice	POTEG_uc001vva.1_Splice_Site|POTEG_uc010ahc.1_Splice_Site	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	400										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCATCTGCAGGAAATGTCTCA	0.284000														163			8		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554112	52554112	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:52554112G>A	uc003dej.3	+	50	5462	c.5388G>A	c.(5386-5388)cgG>cgA	p.R1796R	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1796	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATTCTGCGGGGCCACATGA	0.617000														71			28		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36450141	36450141	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:36450141C>T	uc003tff.3	+	5	1319	c.1115C>T	c.(1114-1116)cCt>cTt	p.P372L	ANLN_uc011kaz.2_Missense_Mutation_p.P284L|ANLN_uc003tfg.3_Missense_Mutation_p.P372L|ANLN_uc010kxe.3_Missense_Mutation_p.P372L	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	372	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GGAATTAAGCCTTTCCTGGAA	0.383000														50			22		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11174416	11174416	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:11174416G>A	uc001asd.3	-	52	7380	c.7259C>T	c.(7258-7260)gCc>gTc	p.A2420V	MTOR_uc001asc.3_Missense_Mutation_p.A625V	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2420	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATAGACAAAGGCTTCCAGCAC	0.527000														36			24		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440365	40440365	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:40440365G>A	uc003gvc.2	-	3	1256	c.546C>T	c.(544-546)atC>atT	p.I182I	RBM47_uc003gvd.2_Silent_p.I182I|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.I144I|RBM47_uc003gvg.1_Silent_p.I182I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	182	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGGCGTAGACGATCACGTCCA	0.632000														104			44		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123810043	123810043	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:123810043C>T	uc001lfv.3	+	2	484	c.124C>T	c.(124-126)Cct>Tct	p.P42S	TACC2_uc001lfw.3_Missense_Mutation_p.P42S|TACC2_uc009xzx.3_Missense_Mutation_p.P42S|TACC2_uc010qtv.2_Missense_Mutation_p.P42S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	42						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCCGGAAGCCCTGACCACAG	0.597000														42			11		0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17370472	17370472	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:17370472C>G	uc011jxz.1	+	5	1280	c.667C>G	c.(667-669)Cgt>Ggt	p.R223G		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	223					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CTTCATATGTCGTCTAAGGTG	0.403000														41			19		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483063	20483063	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:20483063C>T	uc010tky.2	-	0	290	c.290G>A	c.(289-291)gGa>gAa	p.G97E		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCCATACATCCTCCAAAGGA	0.488000														52			23		0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	736958	736958	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:736958C>T	uc002ciz.1	-	2	1878	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	503										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GGGGTGGCGCCGGTCGCCAGT	0.682000														17			12		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150841035	150841035	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:150841035G>A	uc004fev.4	+	13	2150	c.1818G>A	c.(1816-1818)caG>caA	p.Q606Q		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	606						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GATTTTTACAGGCCCAACCCA	0.493000														55			35		0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128663	76128663	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:76128663C>T	uc003keo.3	+	1	406	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	77					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CCACTGTCTTCCTTCCAATTG	0.468000														164			51		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666411	34666411	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:34666411G>A	uc001bxt.3	+	2	1886	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	C1orf94_uc001bxs.4_Missense_Mutation_p.G160R	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	160							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAAGGGTCAAGGGAGCCTCTT	0.592000														75			38		0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69722078	69722078	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:69722078T>C	uc004dyi.2	+	18	2760	c.2413T>C	c.(2413-2415)Tct>Cct	p.S805P	DLG3_uc004dyj.2_Missense_Mutation_p.S500P|DLG3_uc011mpn.2_Missense_Mutation_p.S354P	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	805					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TGAGGACCAGTCTGGGCACTA	0.423000														21			10		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561696	15561696	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:15561696C>T	uc002yjm.3	-	1	164	c.154G>A	c.(154-156)Gat>Aat	p.D52N	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.D31N|LIPI_uc021whh.1_Missense_Mutation_p.D31N|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.D31N|LIPI_uc021whe.1_Missense_Mutation_p.D31N|LIPI_uc021whf.1_Missense_Mutation_p.D31N	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	31					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.K51N(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTGAAGGAATCCTTTACACTT	0.348000														95			29		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105189954	105189954	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:105189954C>T	uc004emd.3	+	24	4450	c.4147C>T	c.(4147-4149)Cca>Tca	p.P1383S	NRK_uc011msi.2_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1384	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCAGCTGATCCAGTGAACCG	0.448000										HNSCC(51;0.14)				22			9		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203622097	203622097	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:203622097C>T	uc010zhx.2	+	5	1276	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	422										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCACCATTTCCAATGAAGGTA	0.537000														52			29		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58542880	58542880	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:58542880C>T	uc002enm.3	+	12	1241	c.900C>T	c.(898-900)tcC>tcT	p.S300S	NDRG4_uc002enk.3_Silent_p.S280S|NDRG4_uc010vif.2_Silent_p.S280S|NDRG4_uc002eno.3_Silent_p.S248S|NDRG4_uc010cdk.3_Silent_p.S266S|NDRG4_uc010vig.2_Silent_p.S278S|NDRG4_uc010vih.2_Silent_p.S193S|NDRG4_uc010vii.2_Silent_p.S266S|NDRG4_uc002enp.3_Silent_p.S248S|NDRG4_uc002enq.1_Intron	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	248					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGTGCAACTCCAAACTGGACC	0.617000														26			9		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176903435	176903435	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:176903435G>A	uc001glc.3	-	15	2736	c.2524C>T	c.(2524-2526)Cgt>Tgt	p.R842C	ASTN1_uc001glb.1_Missense_Mutation_p.R842C|ASTN1_uc001gld.1_Missense_Mutation_p.R842C	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	850					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAATCTGCACGAGATGTAGCC	0.507000														48			19		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026400	182026400	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:182026400G>A	uc001goz.3	-	1	954	c.746C>T	c.(745-747)cCc>cTc	p.P249L	ZNF648_uc021pfu.1_Missense_Mutation_p.P249L	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCACCTGTAGGGACGCGCCTC	0.736000														10			7		0	0	1	0	0
LOC644936	644936	broad.mit.edu	37	5	79595839	79595839	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:79595839G>A	uc010jai.3	-	0	459	c.318C>T	c.(316-318)ttC>ttT	p.F106F						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		AGGAAGTTTGGAAGAGTGCCT	0.532000														39			21		0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175224	45175224	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:45175224C>T	uc002ozo.4	+	0	501	c.21C>T	c.(19-21)acC>acT	p.T7T	CEACAM19_uc002ozp.4_Silent_p.T7T	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	7						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCATGGGGACCCAGGGCTGCT	0.572000														10			7		0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44571352	44571352	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:44571352A>T	uc002oyf.1	+	4	1624	c.1371A>T	c.(1369-1371)aaA>aaT	p.K457N	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ATCCATCCAAATGTGAAGACT	0.363000														64			32		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779807	111779807	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:111779807C>T	uc001tsa.2	+	20	3763	c.3609C>T	c.(3607-3609)ttC>ttT	p.F1203F		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1203						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCTCTCCTTCCAGCTCAACC	0.617000														78			22		0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40887038	40887038	+	Missense_Mutation	SNP	G	A	A	rs145519209		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:40887038G>A	uc002onp.3	-	2	1145	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	287	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGGTCCAACGACTTGAGCAT	0.632000														53			20		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541830	55541830	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:55541830G>A	uc003xsd.1	+	3	5536	c.5388G>A	c.(5386-5388)acG>acA	p.T1796T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1796					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T1796T(2)|p.T1796M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGGCCCAACGATGGATGAAC	0.448000														36			21		0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	878589	878589	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:878589G>A	uc003jbq.3	-	10	1319	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	BRD9_uc003jbl.3_Silent_p.S268S|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Silent_p.S331S|BRD9_uc003jbo.3_Silent_p.S288S|BRD9_uc003jbp.3_Silent_p.S45S|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	384							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TAGTGGCACTGGAGAGAAAGG	0.562000														85			10		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95944469	95944469	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:95944469G>A	uc002suk.3	+	9	1184	c.1051_splice	c.e9-1	p.E351_splice	PROM2_uc002suh.2_Splice_Site_p.E351_splice|PROM2_uc002sui.3_Splice_Site_p.E351_splice|PROM2_uc002suj.3_Splice_Site_p.E5_splice|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	351						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTTCCTGCAGGAGAACAGCAC	0.632000														68			18		0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27463243	27463243	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:27463243G>A	uc011aww.2	-	8	1515	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	SLC4A7_uc011awx.2_Missense_Mutation_p.P419S|SLC4A7_uc021wun.1_Missense_Mutation_p.P308S|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.P415S|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.P304S|SLC4A7_uc011axb.2_Missense_Mutation_p.P419S|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.P304S|SLC4A7_uc010hfl.3_Intron|SLC4A7_uc003cdv.3_Missense_Mutation_p.P423S|SLC4A7_uc003cdw.3_Missense_Mutation_p.P299S	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	423						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GCACCCGTAGGAATTTTTCTC	0.388000														65			33		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159114	130159114	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:130159114G>A	uc010htj.1	+	34	6426	c.5932G>A	c.(5932-5934)Gag>Aag	p.E1978K	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.E17K|COL6A5_uc010htk.1_Missense_Mutation_p.E17K	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	1978	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCAAAGGATGAGTTTAAGGC	0.403000														30			10		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056140	29056140	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:29056140C>T	uc002kws.3	+	15	3026	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	DSG3_uc002kwt.3_Missense_Mutation_p.P255S	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	973					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCCAGTGTTCCTGGCAACCT	0.498000														128			46		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188228	140188228	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140188228G>A	uc003lhi.2	+	0	1557	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E486K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E486K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	500	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGCAGGAGAACGCGCT	0.657000														71			38		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171112	150171112	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:150171112G>A	uc003whj.3	+	3	1025	c.695G>A	c.(694-696)aGg>aAg	p.R232K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	232						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAAGGGAAAGGCAGCTGCAG	0.527000														90			32		0	0	1	0	0
CCDC126	90693	broad.mit.edu	37	7	23682576	23682576	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:23682576C>T	uc003swn.3	+	3	610	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	CCDC126_uc003swl.3_Missense_Mutation_p.L89F|CCDC126_uc003swm.3_Missense_Mutation_p.L89F	NM_138771	NP_620126	Q96EE4	CC126_HUMAN	Homo sapiens coiled-coil domain containing 126 (CCDC126), mRNA.	89						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						AATTGCTGTCCTTCTGGATGA	0.378000														66			23		0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296092	154296092	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:154296092G>A	uc001feu.3	+	4	557	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	173					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGATTGTGGGGCTCTTGGC	0.597000														134			46		0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668251	59668251	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:59668251C>T	uc002izj.2	-	0	313	c.291G>A	c.(289-291)tgG>tgA	p.W97*		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	97	NAC-A/B.				protein transport	cytoplasm|nucleus		p.W97*(2)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTTAGATTTCCAGATAGTGA	0.448000														272			116		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494457	7494457	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:7494457G>A	uc003bqm.2	+	5	1612	c.1338G>A	c.(1336-1338)aaG>aaA	p.K446K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.K446K|GRM7_uc003bql.2_Silent_p.K446K|GRM7_uc003bqn.1_Silent_p.K29K|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	446					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTGGAGGCAAGAAGTTGCTGA	0.453000														25			13		0	0	1	0	0
CT45A1	541466	broad.mit.edu	37	X	134856771	134856771	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:134856771G>A	uc004eyy.3	+	4	791	c.546G>A	c.(544-546)aaG>aaA	p.K182K		NM_001017417	NP_001017417	Q5HYN5	CT451_HUMAN	Homo sapiens cancer/testis antigen family 45, member A1 (CT45A1), mRNA.	182																	AGCACCTTAAGAAGAAACTGA	0.383000														470			22		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2139840	2139840	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:2139840C>T	uc002cos.1	-	45	13009	c.12800G>A	c.(12799-12801)cGg>cAg	p.R4267Q	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R4266Q	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	4267					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGTGCTGGCCGCAGGCCCGG	0.726000														8			4		0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633707	116633707	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:116633707G>A	uc001ppn.3	-	3	632	c.598C>T	c.(598-600)Cct>Tct	p.P200S	BUD13_uc001ppo.3_Missense_Mutation_p.P200S|BUD13_uc009yzc.3_Missense_Mutation_p.P200S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	200	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGGGGAGAAGGATCTGGAGAA	0.567000														154			67		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244787	46244787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:46244787C>T	uc001ros.1	+	14	2881	c.2881C>T	c.(2881-2883)Cag>Tag	p.Q961*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q961*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q417*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q588*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q295*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	961	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAGACAGTTCAGCTAACTGG	0.483000			"""N, S, F"""		hepatocellular carcinoma									147			40		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013438	99013438	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:99013438G>A	uc010fij.3	+	7	1958	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E	CNGA3_uc002syt.3_Missense_Mutation_p.G602E|CNGA3_uc002syu.3_Missense_Mutation_p.G584E			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	602					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAGGAGAAAGGACGGCAGATC	0.602000														48			20		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884364	215884364	+	Missense_Mutation	SNP	C	T	T	rs150321357	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:215884364C>T	uc002vew.3	-	11	1664	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	ABCA12_uc002vev.3_Missense_Mutation_p.E164K|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	482					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCTGCTATTTCGGTGCCCAGC	0.433000														54			24		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26785320	26785320	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:26785320G>A	uc001iss.3	+	4	481	c.160_splice	c.e4+1	p.E54_splice	APBB1IP_uc001isr.3_Splice_Site_p.E54_splice|APBB1IP_uc009xks.1_Splice_Site_p.E54_splice	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	54					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGATTTAAATGGTAAGCATAA	0.318000														48			21		0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32230067	32230067	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:32230067G>A	uc003jhq.3	-	15	2231	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	MTMR12_uc010iuk.3_Silent_p.A633A|MTMR12_uc010iul.3_Silent_p.A577A	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	687						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCCTGGGGGGCCTGCTGGC	0.572000														118			29		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215098	140215098	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140215098G>A	uc003lhq.2	+	0	1130	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.R377Q	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	392	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTTTGACCGAGATTTTGGA	0.507000														168			59		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62302497	62302497	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:62302497G>A	uc001ntl.3	-	3	620	c.320C>T	c.(319-321)tCc>tTc	p.S107F	AHNAK_uc001ntk.1_Missense_Mutation_p.S107F	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	107					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGAGCTGCAGGAGCTGAAGAC	0.667000														38			17		0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37417768	37417768	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:37417768G>A	uc002hrt.3	-	14	1510	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	FBXL20_uc010cvu.3_Missense_Mutation_p.P387L	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	419						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TACTGATGGGGGTGGAGTGAC	0.468000														82			35		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70532107	70532107	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:70532107G>A	uc002lkw.3	-	2	440	c.156C>T	c.(154-156)atC>atT	p.I52I	NETO1_uc002lky.2_Silent_p.I52I|NETO1_uc002lkz.3_Silent_p.I51I	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	52	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.I52I(2)|p.I51I(1)|p.G51V(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAGAGGTAAAGATACCTCCCT	0.423000														47			8		0	0	1	0	0
CIB4	130106	broad.mit.edu	37	2	26806663	26806663	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:26806663C>T	uc002rhm.3	-	4	461	c.432G>A	c.(430-432)acG>acA	p.T144T		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	144	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACGTGGTTCGTGAGGTCCA	0.582000														71			26		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646454	57646454	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:57646454C>T	uc002qnz.1	-	4	1637	c.1251G>A	c.(1249-1251)agG>agA	p.R417R		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTATAGGTCCTCTCTCCGC	0.393000														145			39		0	0	1	0	0
PSG10P	653492	broad.mit.edu	37	19	43358102	43358102	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:43358102G>A	uc010eip.3	-	2		c.529_splice	c.e2+1		PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron					Homo sapiens pregnancy specific beta-1-glycoprotein 10, pseudogene (PSG10P), non-coding RNA.																		ATCACTTACGGTATAAGGTGA	0.517000														304			113		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188783	98188783	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:98188783C>T	uc003dsm.3	+	0	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGCCTATGACCGCTATGTGG	0.463000														173			68		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14905670	14905670	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:14905670C>T	uc003bzc.3	+	1	2671	c.2561C>T	c.(2560-2562)tCg>tTg	p.S854L	FGD5_uc011avk.2_Missense_Mutation_p.S854L	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	854					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGTCCCATCTCGTCGGCAGCC	0.532000														61			27		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387155	45387155	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:45387155G>A	uc001zun.3	-	31	4577	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	DUOX2_uc010bea.3_Silent_p.F1458F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1458					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCCTGAGGTCGAACTTCTCAG	0.587000														62			23		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95734615	95734615	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:95734615C>T	uc003kls.2	-	10	1795	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	PCSK1_uc010jbi.2_Missense_Mutation_p.G209E|PCSK1_uc021ybq.1_Missense_Mutation_p.G472E	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	519					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGAAGGTCTCCTCTTCGGGA	0.343000														65			18		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881304	33881305	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:33881304_33881305GG>AA	uc003jia.1	-	1	571_572	c.408_409CC>TT	c.(406-411)gccccc>gcTTcc	p.P137S	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P137S|ADAMTS12_uc003jib.1_Missense_Mutation_p.P137S	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	137					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGCAGAGGGGGGCAGAGGAAG	0.525000										HNSCC(64;0.19)				92			31		0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119634983	119634983	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:119634983G>A	uc003edo.3	-	4	1499	c.516C>T	c.(514-516)atC>atT	p.I172I	GSK3B_uc003edn.3_Silent_p.I172I	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	172	Protein kinase.				ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CAAAGGAATGGATATAGGCTA	0.358000														49			19		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117120086	117120086	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:117120086G>A	uc001egq.1	-	11	4198	c.3493C>T	c.(3493-3495)Ctt>Ttt	p.L1165F	IGSF3_uc001egr.1_Missense_Mutation_p.L1145F	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	1145						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGCACCAGAAGGATGGTGATG	0.522000														54			38		0	0	1	0	0
TRIM43	129868	broad.mit.edu	37	2	96259768	96259768	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:96259768G>A	uc002suv.3	+	2	133	c.-3_splice	c.e2-1			NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN	Homo sapiens tripartite motif containing 43 (TRIM43), mRNA.							intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTTTCCTTAGGAAAATGGACT	0.433000														92			30		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138946166	138946166	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:138946166C>T	uc011kqr.2	+	5	1074	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P	BC045656_uc022amp.1_5'Flank|UBN2_uc003vuv.3_Silent_p.P81P	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	358										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGAATAAACCCCCATGTGCTG	0.473000														74			30		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207684981	207684981	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:207684981G>A	uc001hfy.3	+	3	609	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CR1_uc009xcl.1_Missense_Mutation_p.E157K|CR1_uc001hfx.3_Missense_Mutation_p.E157K|CR1_uc021pij.1_Missense_Mutation_p.E157K|CR1_uc009xcj.1_Missense_Mutation_p.E157K|CR1_uc009xck.1_Missense_Mutation_p.E157K	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	157	Sushi 2.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGGGATAATGAAACACCTAT	0.353000														61			16		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777273	123777273	+	Missense_Mutation	SNP	G	A	A	rs150490501		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:123777273G>A	uc010saa.2	+	0	135	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M45I(2)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ACCTCAGCATGATCTCAATTA	0.408000														105			42		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854874	89854874	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:89854874G>A	uc010len.3	+	2	984	c.478G>A	c.(478-480)Gat>Aat	p.D160N	STEAP2_uc003ujy.2_Missense_Mutation_p.D202N|STEAP2_uc003uka.3_Missense_Mutation_p.D160N|STEAP2_uc003ujz.3_Missense_Mutation_p.D160N|STEAP2_uc003ukc.3_Missense_Mutation_p.D160N|STEAP2_uc003ukb.3_Missense_Mutation_p.D160N|STEAP2_uc003ukd.3_Missense_Mutation_p.D160N	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	160					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AGGACCTAAGGATGCCAGCCG	0.338000														98			47		0	0	1	0	0
C20orf196	149840	broad.mit.edu	37	20	5844062	5844062	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:5844062G>A	uc002wmf.3	+	2	658	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA.	191										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						ACTGTCAAAGGATATTACTCA	0.498000														111			27		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60886298	60886298	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:60886298G>A	uc002ycq.3	-	72	10075	c.10008C>T	c.(10006-10008)acC>acT	p.T3336T	LAMA5_uc021wfw.1_Silent_p.T3336T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3336					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCTCGGGTGGTCCTGAGGT	0.682000														22			5		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58256196	58256196	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:58256196G>A	uc002aex.3	-	8	1246	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	ALDH1A2_uc010ugv.2_Missense_Mutation_p.R304C|ALDH1A2_uc002aey.3_Missense_Mutation_p.R287C|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R296C|ALDH1A2_uc002aew.3_Missense_Mutation_p.R229C	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	325					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACGAAGATGCGAGAGCCTGCA	0.562000														69			33		0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118517363	118517363	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:118517363G>A	uc001tws.3	-	3	1047	c.713C>T	c.(712-714)tCg>tTg	p.S238L		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	238	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CAACATGAACGATCCTGATGC	0.547000														107			29		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14548331	14548331	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:14548331G>A	uc021wtn.1	-	20	2664	c.2664C>T	c.(2662-2664)acC>acT	p.T888T	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	792					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCCACCCTCGGTGGCCGAGC	0.657000														11			3		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881535	228881535	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:228881535C>T	uc002vpq.2	-	6	4082	c.4035G>A	c.(4033-4035)gaG>gaA	p.E1345E	SPHKAP_uc002vpp.2_Silent_p.E1345E|SPHKAP_uc010zlx.1_Silent_p.E1345E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1345						cytoplasm	protein binding	p.E1345D(3)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGCACACTTCTCTGCTTGCG	0.512000														82			22		0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4609466	4609466	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:4609466G>A	uc001qms.3	-	10	1366	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	C12orf4_uc001qmt.3_Silent_p.I426I	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.	426										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		AAGCAACATGGATTTCTGAGA	0.383000														55			25		0	0	1	0	0
HAUS8	93323	broad.mit.edu	37	19	17163670	17163670	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:17163670C>T	uc002nfe.3	-	9	1005	c.894G>A	c.(892-894)aaG>aaA	p.K298K	HAUS8_uc002nff.3_Silent_p.K297K	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	298					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CCGTCACGTCCTTGAGTTCGC	0.527000											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		123			35		0	0	1	0	0
PSMC1	5700	broad.mit.edu	37	14	90730042	90730042	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:90730042C>T	uc001xyf.3	+	4	364	c.316C>T	c.(316-318)Ccg>Tcg	p.P106S	PSMC1_uc001xyg.3_Missense_Mutation_p.P33S|PSMC1_uc001xyh.3_Missense_Mutation_p.P33S	NM_002802	NP_002793	P62191	PRS4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.	106					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		GAGGGGGACCCCGATGTCAGT	0.433000														70			22		0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2195030	2195030	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:2195030G>A	uc003ger.2	-	4	934	c.922C>T	c.(922-924)Caa>Taa	p.Q308*	POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Nonsense_Mutation_p.Q308*	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	308					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTCATTGTTTGAAATAGCACG	0.328000								DNA polymerases (catalytic subunits)						37			12		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35802771	35802771	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:35802771C>T	uc003zyd.3	+	11	1858	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	NPR2_uc010mlb.3_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	620	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	p.R620C(2)|p.R620H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGGATGTTTCGTTATTCACT	0.408000														44			38		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494709	55494709	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:55494709C>T	uc021vbq.1	+	5	1754	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	NLRP2_uc010yfp.2_Missense_Mutation_p.P525L|NLRP2_uc002qij.3_Missense_Mutation_p.P548L|NLRP2_uc010esp.3_Missense_Mutation_p.P526L|NLRP2_uc010esn.3_Missense_Mutation_p.P524L|NLRP2_uc010eso.3_Missense_Mutation_p.P545L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	548					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTCAGGAACCCCGACCTGATC	0.567000														86			31		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57345911	57345911	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:57345911C>T	uc001smi.4	-	3	1028	c.856G>A	c.(856-858)Gat>Aat	p.D286N	RDH16_uc009zpa.3_Missense_Mutation_p.D141N	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	286					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGCTTGGCATCCCAGCCAGCT	0.567000														45			24		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156844765	156844765	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:156844765A>G	uc001fqh.1	+	10	1375	c.1319A>G	c.(1318-1320)aAc>aGc	p.N440S	NTRK1_uc001fqf.1_Missense_Mutation_p.N404S|NTRK1_uc009wsi.1_Missense_Mutation_p.N139S|NTRK1_uc001fqi.1_Missense_Mutation_p.N434S|NTRK1_uc009wsk.1_Missense_Mutation_p.N434S	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	440					Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTTGTGCTCAACAAATGTGGA	0.572000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				129			53		0	0	1	0	0
AKAP14	158798	broad.mit.edu	37	X	119037502	119037502	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:119037502G>A	uc004ese.3	+	3	352	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	AKAP14_uc004esd.3_Missense_Mutation_p.E72K|AKAP14_uc004esf.3_Missense_Mutation_p.E72K	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.	72						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						GACTCACGGTGAATTCACTGT	0.423000														35			21		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41330674	41330674	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:41330674C>G	uc001rmm.1	+	9	1190	c.1077C>G	c.(1075-1077)atC>atG	p.I359M	CNTN1_uc009zjy.2_Missense_Mutation_p.I359M|CNTN1_uc001rmn.1_Missense_Mutation_p.I348M|CNTN1_uc001rmo.3_Missense_Mutation_p.I359M	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	359	Ig-like C2-type 4.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAAAGCCCATCCCTACAATCC	0.478000														117			43		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44917198	44917198	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:44917198C>T	uc010skz.1	-	17	2149	c.2024G>A	c.(2023-2025)gGa>gAa	p.G675E	NELL2_uc001rof.3_Missense_Mutation_p.G624E|NELL2_uc001rog.2_Missense_Mutation_p.G625E|NELL2_uc001roh.2_Missense_Mutation_p.G625E|NELL2_uc009zkd.2_Missense_Mutation_p.G577E|NELL2_uc010sla.1_Missense_Mutation_p.G648E|NELL2_uc001roi.1_Missense_Mutation_p.G625E	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	625	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.G625A(1)|p.G675A(1)|p.R674Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACAATCATATCCGCCATCCAA	0.443000														89			34		0	0	1	0	0
TP53RK	112858	broad.mit.edu	37	20	45315731	45315731	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:45315731G>A	uc002xsk.3	-	1	646	c.423C>T	c.(421-423)aaC>aaT	p.N141N	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	141	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TCTTGGCTAAGTTGGAGAGAC	0.473000														200			76		0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185601	56185601	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56185601C>T	uc010rji.2	-	0	108	c.108G>A	c.(106-108)ctG>ctA	p.L36L	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GCACTGTGACCAGATAGATAA	0.428000														85			23		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133923693	133923693	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:133923693C>T	uc003ytw.3	+	18	4115	c.4074C>T	c.(4072-4074)acC>acT	p.T1358T	TG_uc010mdw.3_Silent_p.T117T	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1358					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTGTCTGACCAGGGAGCGTT	0.473000														94			49		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005714	25005714	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:25005714G>A	uc003grf.2	-	7	1096	c.997C>T	c.(997-999)Cag>Tag	p.Q333*		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	333						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCGTCGATCTGAAACAGCTCG	0.438000														142			61		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65346915	65346915	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:65346915C>G	uc003dmn.3	-	21	4119	c.3593G>C	c.(3592-3594)cGt>cCt	p.R1198P	MAGI1_uc003dmm.3_Missense_Mutation_p.R1226P|MAGI1_uc003dmo.3_Missense_Mutation_p.R1227P|MAGI1_uc003dmp.3_Missense_Mutation_p.R1131P	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1227	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAGAAACAGACGAACTCTGCG	0.443000														73			22		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432870	104432870	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:104432870C>T	uc004bbp.2	-	2	2425	c.1824G>A	c.(1822-1824)tgG>tgA	p.W608*	GRIN3A_uc004bbq.1_Nonsense_Mutation_p.W608*	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	608					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCCCATTTTTCCATGCTCCAT	0.483000														49			29		0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110428013	110428013	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:110428013G>A	uc003kpd.3	+	0	144	c.27G>A	c.(25-27)cgG>cgA	p.R9R	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	9					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCAGTCTCCGGAAACGCGATT	0.592000														99			22		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92174530	92174530	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:92174530G>A	uc001xzs.1	-	5	561	c.421C>T	c.(421-423)Cta>Tta	p.L141L		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	141					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TAAATATTTAGTCCATGATGT	0.303000														46			20		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748621	64748621	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:64748621C>T	uc003jtp.3	-	4	1570	c.756G>A	c.(754-756)gtG>gtA	p.V252V	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	252	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCAATGTCTCCACAAACCGTT	0.418000														99			25		0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47542691	47542691	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:47542691G>A	uc002pfw.3	+	7	1027	c.831G>A	c.(829-831)cgG>cgA	p.R277R	NPAS1_uc002pfy.3_Silent_p.R277R|NPAS1_uc010xyj.2_Silent_p.R101R	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	277					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GGCGCCTTCGGGCCCACGCCC	0.687000														55			26		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114397547	114397547	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:114397547G>A	uc001eds.3	-	7	795	c.665C>T	c.(664-666)cCc>cTc	p.P222L	LOC100287722_uc001edv.1_5'Flank|PTPN22_uc021orx.1_Missense_Mutation_p.P222L|PTPN22_uc009wgq.3_Missense_Mutation_p.P222L|PTPN22_uc021ory.1_Missense_Mutation_p.P198L|PTPN22_uc010owo.2_Intron|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P222L|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.P222L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	222	Tyrosine-protein phosphatase.				T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGCATATGGGAACACTGTC	0.418000														94			61		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392716	124392716	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:124392716C>T	uc001lgk.1	+	48	6126	c.6020C>T	c.(6019-6021)tCc>tTc	p.S2007F	DMBT1_uc001lgl.1_Missense_Mutation_p.S1997F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1379F|DMBT1_uc021qaf.1_Missense_Mutation_p.S2007F|DMBT1_uc021qag.1_Missense_Mutation_p.S1997F|DMBT1_uc021qah.1_Missense_Mutation_p.S1379F|DMBT1_uc009xzz.1_Missense_Mutation_p.S2006F|DMBT1_uc010qtx.1_Missense_Mutation_p.S727F|DMBT1_uc009yab.1_Missense_Mutation_p.S710F|DMBT1_uc009yac.1_Missense_Mutation_p.S301F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2007					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGATTATTCCTGCGGAGGC	0.473000														72			31		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356258	34356258	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:34356258T>C	uc001zhk.1	+	2	2010	c.1340T>C	c.(1339-1341)aTt>aCt	p.I447T	CHRM5_uc001zhl.1_Missense_Mutation_p.I447T|CHRM5_uc021sir.1_Missense_Mutation_p.I447T	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	447					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.A446D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTGAGTGCCATTCTCCTGGCC	0.517000														78			43		0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989792	125989792	+	Missense_Mutation	SNP	G	A	A	rs144443575		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:125989792G>A	uc003yrr.3	+	2	1437	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCCACCCTGGTGATTCACCA	0.443000										HNSCC(60;0.17)				87			32		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30009039	30009039	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:30009039G>A	uc001zcr.3	-	22	4453	c.3978C>T	c.(3976-3978)atC>atT	p.I1326I	TJP1_uc010azl.3_Silent_p.I1314I|TJP1_uc001zcq.3_Silent_p.I1250I|TJP1_uc001zcs.3_Silent_p.I1246I	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1326					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAGGTTCTGGGATCCTAACAG	0.343000														43			12		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94844815	94844815	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:94844815C>T	uc001ycy.4	-	6	1782	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.G410R|SERPINA1_uc010auy.3_Missense_Mutation_p.G410R|SERPINA1_uc001ycz.4_Missense_Mutation_p.G410R|SERPINA1_uc010auz.3_Missense_Mutation_p.G410R|SERPINA1_uc010ava.3_Missense_Mutation_p.G410R|SERPINA1_uc001ydb.4_Missense_Mutation_p.G410R|SERPINA1_uc010avb.3_Missense_Mutation_p.G410R|SERPINA1_uc001ydc.4_Missense_Mutation_p.G410R|SERPINA1_uc010auw.3_Missense_Mutation_p.G410R|SERPINA1_uc010aux.3_Missense_Mutation_p.G410R	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	410				G -> L (in Ref. 24; AA sequence).	acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	ACCACTTTTCCCATGAAGAGG	0.493000														69			21		0	0	1	0	0
NME3	4832	broad.mit.edu	37	16	1820925	1820925	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:1820925G>A	uc002cmm.3	-	3	524	c.349C>T	c.(349-351)Ccg>Tcg	p.P117S	NME3_uc010brv.3_Non-coding_Transcript|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_002513	NP_002504	Q13232	NDK3_HUMAN	Homo sapiens non-metastatic cells 3, protein expressed in (NME3), mRNA.	117					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|apoptosis|induction of apoptosis		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			lung(1)	1						GTGCCGGGCGGGGCGTCGGCC	0.726000														41			18		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103306741	103306741	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:103306741C>T	uc001phn.1	+	85	12602	c.12458C>T	c.(12457-12459)gCc>gTc	p.A4153V	DYNC2H1_uc009yxe.1_Missense_Mutation_p.A759V|DYNC2H1_uc001pho.2_Missense_Mutation_p.A4146V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	4146					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGTCTTGTTGCCCGTGCCCTT	0.418000														14			13		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127399	55127399	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:55127399G>A	uc003han.4	+	2	518	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Missense_Mutation_p.E63K|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	63	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCCCATGTCTGAAGAAGAGAG	0.483000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				154			49		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266157	3266157	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:3266157C>T	uc010uwv.2	+	0	596	c.448C>T	c.(448-450)Ctc>Ttc	p.L150F						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		TGTGACTCCCCTCCTGAAACT	0.532000														46			15		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168073917	168073917	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:168073917G>A	uc010pln.2	-	2	766	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	GPR161_uc001gfb.3_Intron|GPR161_uc001gfc.3_Missense_Mutation_p.L58F|GPR161_uc010pll.2_Intron|GPR161_uc010plm.2_Intron|GPR161_uc009wvo.3_Missense_Mutation_p.L75F|GPR161_uc001gfd.3_Missense_Mutation_p.L58F|GPR161_uc001gfe.1_Missense_Mutation_p.L58F	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	58					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S77S(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGGGTGAGGAGGTAGGACTTC	0.532000														94			41		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234602469	234602469	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:234602469C>T	uc002vuv.4	+	0	958	c.819C>T	c.(817-819)ttC>ttT	p.F273F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Silent_p.F6F|UGT1A1_uc010zmy.1_Silent_p.F273F	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	274					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACATGGTCTTCATTGGAGGTA	0.433000														413			177		0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129373189	129373189	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:129373189C>T	uc010tbh.1	+	2	199	c.190C>T	c.(190-192)Cga>Tga	p.R64*	GLT1D1_uc001uhx.1_Nonsense_Mutation_p.R75*|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	75					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	p.R75*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TGCAGGCCACCGAATCCCTTT	0.458000														30			4		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394392	138394392	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:138394392G>A	uc003vuf.3	-	19	2644	c.2406C>T	c.(2404-2406)ttC>ttT	p.F802F	ATP6V0A4_uc003vug.3_Silent_p.F802F|ATP6V0A4_uc003vuh.3_Silent_p.F802F	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	802					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGGCGTGCAGGAAAGCAGAGA	0.567000														180			54		0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47616176	47616176	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:47616176G>A	uc002zij.3	-	17	1755	c.1676C>T	c.(1675-1677)aCc>aTc	p.T559I	LSS_uc002zil.2_Missense_Mutation_p.T559I|LSS_uc011afv.1_Missense_Mutation_p.T548I|LSS_uc002zik.2_Missense_Mutation_p.T479I	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	559					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CTGCGTGAGGGTCTCCCTGGA	0.542000														31			14		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79852917	79852917	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:79852917G>A	uc004akr.3	+	18	1856	c.1596_splice	c.e18-1	p.K532_splice	VPS13A_uc004akp.4_Splice_Site_p.K532_splice|VPS13A_uc004akq.4_Splice_Site_p.K532_splice|VPS13A_uc004aks.3_Splice_Site_p.K532_splice	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	532					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTTAATGCAGATTTGAAACT	0.289000														20			19		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431178	56431178	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56431178G>A	uc010rjm.2	+	0	17	c.17G>A	c.(16-18)aGc>aAc	p.S6N	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AAAGAAAACAGCTCAATGGTG	0.393000														123			40		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107125916	107125916	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:107125916C>T	uc001tlt.3	+	13	1527	c.1387C>T	c.(1387-1389)Cac>Tac	p.H463Y	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.H454Y|RFX4_uc001tls.3_Missense_Mutation_p.H463Y|RFX4_uc001tlv.3_Missense_Mutation_p.H360Y	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	454	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGGGTCTTTTCACCTAATTCA	0.468000														108			28		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796603	109796603	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:109796603C>T	uc003ymy.1	-	1	830	c.725G>A	c.(724-726)gGg>gAg	p.G242E	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.G242E	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	242					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GATGACGCCCCCCAGCGTGAG	0.587000														62			24		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198081	101198081	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:101198081C>T	uc001dti.3	+	6	1854	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	VCAM1_uc010ouj.2_Silent_p.L483L|VCAM1_uc001dtj.3_Silent_p.L453L	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	545	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TCCGAAAATCCTGTGGAGCAG	0.488000														77			45		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381661	156381661	+	Silent	SNP	C	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:156381661C>G	uc003lwh.2	-	1	222	c.165G>C	c.(163-165)ggG>ggC	p.G55G	TIMD4_uc010jii.2_Silent_p.G55G	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	55	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGGTCTTTCCCCCAGCACA	0.532000														53			29		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620348	80620348	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:80620348G>A	uc010ysh.2	+	6	1074	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CTNNA2_uc010yse.2_Missense_Mutation_p.E357K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E357K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E357K|CTNNA2_uc010ysi.2_5'UTR	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	357					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGAAGGAAAGAAAAAGGAGA	0.289000														65			21		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143623447	143623447	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:143623447C>T	uc003ywm.3	+	26	4035	c.3852C>T	c.(3850-3852)tcC>tcT	p.S1284S		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1284					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAACGTGTCCAAGCTGCACC	0.662000														31			15		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282675	152282675	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:152282675C>T	uc001ezu.1	-	2	4723	c.4687G>A	c.(4687-4689)Gaa>Aaa	p.E1563K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1563	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGAAGGTTCATGGTGACGT	0.587000									Ichthyosis					315			128		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50835719	50835719	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:50835719G>A	uc001jhz.2	+	6	1152	c.999G>A	c.(997-999)ttG>ttA	p.L333L	CHAT_uc001jhv.1_Silent_p.L215L|CHAT_uc001jhx.1_Silent_p.L215L|CHAT_uc001jhy.1_Silent_p.L215L|CHAT_uc001jia.2_Silent_p.L251L|CHAT_uc010qgs.1_Silent_p.L215L	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	333					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCACTCAGTTGAGAAAGATAG	0.522000														137			52		0	0	1	0	0
PYCR2	29920	broad.mit.edu	37	1	226075716	226075716	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:226075716G>A	uc010pvj.2	-	5	747	c.592C>T	c.(592-594)Cct>Tct	p.P198S	LEFTY1_uc001hpo.3_Silent_p.F89F|LEFTY1_uc009xej.2_Silent_p.F89F			Q96C36	P5CR2_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	0					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	CCAACGCCAGGAACCTGCCGG	0.692000														14			4		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20403340	20403340	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:20403340C>T	uc003suu.3	+	1	913	c.208C>T	c.(208-210)Caa>Taa	p.Q70*	ITGB8_uc011jyh.2_5'UTR|ITGB8_uc003sut.3_Nonsense_Mutation_p.Q70*	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	70					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ATGGTGTGTTCAAGAGGTGTG	0.428000														15			10		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2690858	2690858	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:2690858C>T	uc009zdu.1	+	13	2311	c.1998C>T	c.(1996-1998)tcC>tcT	p.S666S	CACNA1C_uc001qkc.2_Silent_p.S666S|CACNA1C_uc001qjz.2_Silent_p.S666S|CACNA1C_uc001qkd.2_Silent_p.S666S|CACNA1C_uc001qke.2_Silent_p.S666S|CACNA1C_uc001qkf.2_Silent_p.S666S|CACNA1C_uc009zdw.1_Silent_p.S666S|CACNA1C_uc001qkg.2_Silent_p.S666S|CACNA1C_uc001qkh.2_Silent_p.S666S|CACNA1C_uc001qkl.2_Silent_p.S666S|CACNA1C_uc001qkj.2_Silent_p.S666S|CACNA1C_uc001qkk.2_Silent_p.S666S|CACNA1C_uc001qkn.2_Silent_p.S666S|CACNA1C_uc001qkm.2_Silent_p.S666S|CACNA1C_uc001qko.2_Silent_p.S666S|CACNA1C_uc001qkp.2_Silent_p.S666S|CACNA1C_uc001qkq.2_Silent_p.S666S|CACNA1C_uc001qku.2_Silent_p.S666S|CACNA1C_uc001qkr.2_Silent_p.S666S|CACNA1C_uc001qks.2_Silent_p.S666S|CACNA1C_uc001qkt.2_Silent_p.S666S|CACNA1C_uc009zdv.1_Silent_p.S663S|CACNA1C_uc001qkb.2_Silent_p.S666S|CACNA1C_uc001qka.1_Silent_p.S201S|CACNA1C_uc001qki.1_Silent_p.S402S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	666					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tcatcttctccctcctGGGGA	0.537000														14			12		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9928059	9928059	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:9928059C>T	uc010uym.2	-	8	1990	c.1680G>A	c.(1678-1680)atG>atA	p.M560I	GRIN2A_uc002czo.4_Missense_Mutation_p.M560I|GRIN2A_uc010uyn.2_Missense_Mutation_p.M403I|GRIN2A_uc002czr.4_Missense_Mutation_p.M560I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	560					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACAAACATCATCACCCAGA	0.433000														118			39		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409143	56409143	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56409143A>T	uc001njb.1	-	0	773	c.773T>A	c.(772-774)tTt>tAt	p.F258Y	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GATTGTTCCAAAGAATATGGT	0.458000														95			37		0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160327991	160327991	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:160327991G>A	uc003qsz.3	+	0	18	c.4G>A	c.(4-6)Gat>Aat	p.D2N		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	2					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CCTCCTCATGGATGGGTCAAA	0.438000														64			22		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4854879	4854879	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:4854879G>A	uc003bqc.3	+	55	7827	c.7477G>A	c.(7477-7479)Gag>Aag	p.E2493K	ITPR1_uc021wsi.1_Missense_Mutation_p.E2460K|ITPR1_uc021wsj.1_Missense_Mutation_p.E2445K|ITPR1_uc011asu.2_Missense_Mutation_p.E471K|ITPR1_uc010hcc.2_Missense_Mutation_p.E228K|ITPR1_uc011asv.2_Missense_Mutation_p.E184K	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2508	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGTAGGGTGGAGAGTGGGGA	0.507000														71			44		0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223991036	223991036	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:223991036G>A	uc001hod.3	-	7	1192	c.381C>T	c.(379-381)atC>atT	p.I127I	TP53BP2_uc010pvb.2_Silent_p.I256I|TP53BP2_uc010puz.2_5'Flank|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	250					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GGTGGCTGTCGATCCTGCCGT	0.498000														88			36		0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138857016	138857016	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:138857016G>A	uc004faz.3	-	18	2157	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.S686S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	686					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CATAGCATGTGGATTTAGCTG	0.478000														53			40		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29041173	29041173	+	Silent	SNP	G	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:29041173G>C	uc001usb.3	-	2	540	c.255C>G	c.(253-255)ggC>ggG	p.G85G	FLT1_uc010aar.1_Silent_p.G85G|FLT1_uc001usc.3_Silent_p.G85G|FLT1_uc010tdp.1_Silent_p.G85G|FLT1_uc001usd.3_Silent_p.G85G	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	85	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGAATTGTTTGCCATTTCTTC	0.443000														97			35		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325056	150325056	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:150325056G>A	uc022apv.1	-	2	1320	c.840C>T	c.(838-840)gcC>gcT	p.A280A	GIMAP6_uc003whn.3_Silent_p.A210A|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	210				E -> A (in Ref. 1; CAE45757).			GTP binding	p.A210A(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCGCAGTTGGGCCTCCTGCT	0.532000														186			64		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17886797	17886797	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:17886797G>A	uc002nhg.3	+	15	1288	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	FCHO1_uc010ebb.2_Missense_Mutation_p.A337T|FCHO1_uc002nhh.2_Missense_Mutation_p.A337T|FCHO1_uc010xpw.1_Missense_Mutation_p.A287T	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	337										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCCACGCACGGCCGAGCCCTC	0.627000											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			25		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855733	228855733	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:228855733C>T	uc002vpq.2	-	10	4989	c.4942G>A	c.(4942-4944)Gaa>Aaa	p.E1648K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1619K|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1648						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTCTGTTTTCCTGAGATTTC	0.463000														57			11		0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203467937	203467937	+	Missense_Mutation	SNP	C	A	A	rs149651299		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:203467937C>A	uc001gzu.1	+	3	615	c.499C>A	c.(499-501)Cgt>Agt	p.R167S		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	167						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.R167H(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCGCATCAGCCGTATCAGGGC	0.552000														62			26		4.87955e-14	4.96583e-14	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21038411	21038411	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:21038411G>A	uc010vbe.2	-	37	5478	c.5478C>T	c.(5476-5478)tcC>tcT	p.S1826S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1826	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCTCATCTTGGAGTTCATCT	0.552000														33			11		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729587	88729587	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:88729587G>A	uc001xwm.3	-	1	483	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	KCNK10_uc001xwn.3_Missense_Mutation_p.H121Y|KCNK10_uc001xwo.3_Missense_Mutation_p.H116Y	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	116					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ACACAGACATGATCCCGCAGG	0.577000														45			23		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283909	159283909	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:159283909C>T	uc010piu.2	-	0	541	c.541G>A	c.(541-543)Gat>Aat	p.D181N		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C180*(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TGTCTCACATCACAGAAGAAG	0.498000														90			34		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073244	197073244	+	Missense_Mutation	SNP	G	A	A	rs143911853		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:197073244G>A	uc001gtu.3	-	17	5394	c.5137C>T	c.(5137-5139)Cgt>Tgt	p.R1713C	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1713					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTTGGAACGGTAACATTGC	0.358000														97			43		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114062	117114062	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:117114062G>A	uc003pxj.1	-	5	2046	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	GPRC6A_uc003pxk.1_Missense_Mutation_p.S500F|GPRC6A_uc003pxl.1_Missense_Mutation_p.S604F	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	675					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAAAATGCAGGAGATGCAAAG	0.403000														81			20		0	0	1	0	0
BAG4	9530	broad.mit.edu	37	8	38065149	38065149	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:38065149C>T	uc003xky.2	+	2	780	c.498C>T	c.(496-498)tcC>tcT	p.S166S	BAG4_uc003xkz.2_Silent_p.S130S	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	166					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CCAGTTACTCCACAGAAGTTC	0.527000														48			25		0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238576	57238576	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:57238576C>T	uc002elb.3	+	1	284	c.6C>T	c.(4-6)atC>atT	p.I2I	RSPRY1_uc002elc.3_Silent_p.I2I|RSPRY1_uc002eld.3_Silent_p.I2I|RSPRY1_uc002ele.1_Silent_p.I2I	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	2						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTAAATGATCGTCTTTGGTT	0.448000														198			86		0	0	1	0	0
LRRC34	151827	broad.mit.edu	37	3	169525457	169525457	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:169525457G>A	uc003ffy.3	-	2	536	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	LRRC34_uc003ffx.3_Missense_Mutation_p.R100C|LRRC34_uc003fga.4_Missense_Mutation_p.R39C|LRRC34_uc021xhd.1_Missense_Mutation_p.R100C	NM_001172779	NP_001166250	Q8IZ02	LRC34_HUMAN	Homo sapiens leucine rich repeat containing 34 (LRRC34), transcript variant 2, mRNA.	87										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GGCACTAAGCGATTGTTACCA	0.294000														38			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727712	13727712	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:13727712C>T	uc003jfd.2	-	69	11979	c.11937G>A	c.(11935-11937)gaG>gaA	p.E3979E	DNAH5_uc003jfc.2_Silent_p.E147E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3979					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3979*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGGTTCCTCCTCCGGGTTTT	0.418000									Kartagener syndrome					51			23		0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82937003	82937003	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:82937003A>T	uc003pjl.1	-	4	1087	c.560T>A	c.(559-561)tTt>tAt	p.F187Y	IBTK_uc011dyv.1_Missense_Mutation_p.F187Y|IBTK_uc011dyw.1_Missense_Mutation_p.F187Y|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.F187Y	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	187					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CACGGAGTGAAATTTACAAAG	0.353000														57			19		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494022	220494022	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:220494022C>T	uc002vmo.4	+	3	583	c.374C>T	c.(373-375)cCc>cTc	p.P125L	SLC4A3_uc002vmn.2_Missense_Mutation_p.P125L|SLC4A3_uc002vmp.4_Missense_Mutation_p.P125L|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	125					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGACCCCTCCCATCCAGGAG	0.637000														20			11		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172634809	172634809	+	Missense_Mutation	SNP	G	A	A	rs80358236		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:172634809G>A	uc001gis.3	+	3	656	c.499G>A	c.(499-501)Gga>Aga	p.G167R	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	167					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						AGACACCTATGGAATTGTCCT	0.433000														68			27		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65266531	65266531	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:65266531G>A	uc001xht.3	-	7	1049	c.998C>T	c.(997-999)tCg>tTg	p.S333L	SPTB_uc001xhr.3_Missense_Mutation_p.S333L|SPTB_uc001xhs.3_Missense_Mutation_p.S333L|SPTB_uc001xhu.3_Missense_Mutation_p.S333L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	333					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCGTCAGCGAGTTGGCAAA	0.602000														71			20		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65197525	65197525	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:65197525C>T	uc001xhp.2	+	4	614	c.575C>T	c.(574-576)gCc>gTc	p.A192V	PLEKHG3_uc001xhn.1_Missense_Mutation_p.A136V|PLEKHG3_uc001xho.1_Missense_Mutation_p.A192V|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	192	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCTCCGTGGCCGCCCTGACG	0.642000														34			9		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158157376	158157376	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:158157376C>T	uc002tzg.3	+	6	2559	c.2304C>T	c.(2302-2304)atC>atT	p.I768I	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	768					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ACCACCTCATCGACCAAGGGC	0.517000														51			6		0	0	1	0	0
PTGES	9536	broad.mit.edu	37	9	132510954	132510955	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:132510954_132510955GG>AA	uc004byi.3	-	1	241_242	c.188_189CC>TT	c.(187-189)ccc>cTT	p.P63L	PTGES_uc010myy.3_Non-coding_Transcript	NM_004878	NP_004869	O14684	PTGES_HUMAN	Homo sapiens prostaglandin E synthase (PTGES), mRNA.	63					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				GTTCCACGTCGGGGTCGCTCCT	0.599000														12			8		0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626597	80626597	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:80626597G>A	uc003pja.4	-	5	992	c.673C>T	c.(673-675)Caa>Taa	p.Q225*	ELOVL4_uc011dyt.2_Non-coding_Transcript	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	225					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	ACATGGAATTGAATCTGAAAA	0.418000														42			17		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:168100393G>A	uc002udx.3	+	8	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E656K|XIRP2_uc010fpq.3_Missense_Mutation_p.E609K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000														92			40		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3643120	3643120	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:3643120T>A	uc002fwo.4	-	19	2600	c.2501A>T	c.(2500-2502)cAg>cTg	p.Q834L		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	834					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GGTGGCCAACTGTAATTCTGC	0.532000														74			24		0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90585838	90585838	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:90585838C>T	uc001kfj.4	-	3	724	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	119								p.R119Q(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		AAGTAGCATTCGTACAAGAGC	0.328000														68			20		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106696	168106696	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:168106696G>A	uc002udx.3	+	8	8883	c.8794G>A	c.(8794-8796)Gaa>Aaa	p.E2932K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2757K|XIRP2_uc010fpq.3_Missense_Mutation_p.E2710K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2757					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTCTGTGAAAGAATCCCAGCG	0.378000														102			40		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539605	55539605	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:55539605G>A	uc003xsd.1	+	3	3311	c.3163G>A	c.(3163-3165)Gaa>Aaa	p.E1055K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1055					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTTACCAGGAAATAAACCT	0.378000														95			34		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154320906	154320906	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:154320906C>T	uc001fex.3	+	26	3285	c.3285C>T	c.(3283-3285)gcC>gcT	p.A1095A		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	1081					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACACCTTGGCCCAGCCCACGG	0.587000														32			14		0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100701062	100701062	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:100701062G>A	uc001dta.3	-	2	214	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	DBT_uc010oug.2_5'UTR|DBT_uc021oqo.1_Missense_Mutation_p.R61C	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	61					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		ACCTGTCCACGGAGAGCTTCA	0.338000														41			23		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20030588	20030588	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:20030588G>A	uc010nfo.2	-	14	2068	c.1951C>T	c.(1951-1953)Ccc>Tcc	p.P651S	MAP7D2_uc004czq.2_Missense_Mutation_p.P495S|MAP7D2_uc011mji.2_Missense_Mutation_p.P558S|MAP7D2_uc004czr.2_Missense_Mutation_p.P610S|MAP7D2_uc011mjj.2_Missense_Mutation_p.P565S	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	610										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATGTCTTGGGGATAAGTTTCT	0.448000														107			6		0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38146056	38146056	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:38146056C>T	uc004ded.1	-	14	2364	c.2196G>A	c.(2194-2196)gaG>gaA	p.E732E	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	718	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						catgctcctcctcccctccct	0.537000														8			3		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876370	18876370	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:18876370G>A	uc021qvx.1	-	3	433	c.242C>T	c.(241-243)tCt>tTt	p.S81F	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_Intron	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	81					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCGGTTTTCAGAATATGTGTT	0.343000														36			18		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14307405	14307405	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:14307405G>A	uc010uza.2	+	5	435	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	MKL2_uc002dcg.3_Missense_Mutation_p.E94K|MKL2_uc002dch.3_Missense_Mutation_p.E83K|MKL2_uc010uzb.2_Missense_Mutation_p.E43K	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	83					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTAAAGACTGAAAACTTTTT	0.294000														50			16		0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121734	38121734	+	Silent	SNP	G	A	A	rs145831910		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:38121734G>A	uc001izd.1	-	5	1048	c.549C>T	c.(547-549)atC>atT	p.I183I	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Silent_p.I183I	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTCCAATAGGGATTTTCTCAT	0.343000														63			18		0	0	1	0	0
NME6	10201	broad.mit.edu	37	3	48336288	48336288	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:48336288C>A	uc003cso.3	-	5	470	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	NME6_uc011bbh.2_Silent_p.L120L|NME6_uc010hju.3_Missense_Mutation_p.V36L|NME6_uc003csp.4_Missense_Mutation_p.V134L|NME6_uc011bbi.2_Missense_Mutation_p.V67L	NM_005793	NP_005784	O75414	NDK6_HUMAN	Homo sapiens non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) (NME6), mRNA.	134					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|anti-apoptosis|apoptosis|negative regulation of cell growth|negative regulation of mitosis	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCTGAAACCACAGAGTCTGTA	0.527000														57			15		6.72482e-11	6.81028e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	9062392	9062392	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9062392C>T	uc002mkp.3	-	2	25258	c.25054G>A	c.(25054-25056)Gca>Aca	p.A8352T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8354	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGTCACTGCTGTGTGTGTG	0.483000														122			32		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131562	45131562	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:45131562C>T	uc002xsa.3	-	3	947	c.485G>A	c.(484-486)gGa>gAa	p.G162E	ZNF334_uc002xsb.3_Missense_Mutation_p.G101E|ZNF334_uc002xsd.3_Missense_Mutation_p.G101E|ZNF334_uc002xsc.3_Missense_Mutation_p.G139E|ZNF334_uc010ghl.3_Missense_Mutation_p.G138E			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACTGTTTCCTCCTGGATTACA	0.353000														48			25		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039706	2039706	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:2039706C>T	uc003zhc.3	+	3	695	c.596C>T	c.(595-597)cCc>cTc	p.P199L	SMARCA2_uc003zhd.3_Missense_Mutation_p.P199L|SMARCA2_uc010mha.3_Missense_Mutation_p.P190L	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	199					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGCCCCTCCCCGAAACGCTG	0.582000														26			16		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155823531	155823531	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:155823531G>A	uc001flz.2	-	1	138	c.41C>T	c.(40-42)tCc>tTc	p.S14F	GON4L_uc001fly.1_Missense_Mutation_p.S14F|GON4L_uc009wrh.1_Missense_Mutation_p.S14F|GON4L_uc001fma.1_Missense_Mutation_p.S14F|GON4L_uc001fmc.3_Missense_Mutation_p.S14F|GON4L_uc001fmd.4_Missense_Mutation_p.S14F|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	14					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGCTGTAGGGACTCTGTCAC	0.398000														67			16		0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49825110	49825110	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:49825110C>T	uc003ozw.2	-	1	83	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	CRISP1_uc003ozx.2_Missense_Mutation_p.E2K|CRISP1_uc021zaj.1_Missense_Mutation_p.E2K	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	2					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TGTTTAATTTCCATCCCTGAA	0.323000														43			12		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862611	14862611	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:14862611C>T	uc003bzc.3	+	0	2143	c.2033C>T	c.(2032-2034)tCt>tTt	p.S678F	FGD5_uc011avk.2_Missense_Mutation_p.S678F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	678					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTGTCTTCCTCTAGGTCCTCT	0.502000														41			20		0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195599264	195599264	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:195599264G>A	uc003fvu.1	-	9	1877	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Missense_Mutation_p.S477F|TNK2_uc003fvt.1_Missense_Mutation_p.S508F|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Missense_Mutation_p.S275F	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	445	SH3.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCCGGCCACGGAGGTCACCAC	0.667000														31			17		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31935611	31935611	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:31935611C>T	uc003nyn.1	+	21	3092	c.2703C>T	c.(2701-2703)ctC>ctT	p.L901L	SKIV2L_uc011dou.1_Silent_p.L743L|SKIV2L_uc011dov.1_Silent_p.L708L	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	901						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAGATGACCTCGTGGGATTCA	0.557000														81			40		0	0	1	0	0
SUMF1	285362	broad.mit.edu	37	3	4461818	4461818	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:4461818G>A	uc003bpz.2	-	3	569	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	SUMF1_uc003bps.2_Non-coding_Transcript|SUMF1_uc011ass.2_Missense_Mutation_p.P153S|SUMF1_uc010hby.2_Missense_Mutation_p.P178S|SUMF1_uc011ast.2_Intron	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	Homo sapiens sulfatase modifying factor 1 (SUMF1), transcript variant 1, mRNA.	178						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		AACCACCAGGGAGCAGCTGCA	0.483000														52			12		0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32400423	32400423	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:32400423C>T	uc002rof.2	+	3	271	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F	SLC30A6_uc002roe.2_Missense_Mutation_p.L71F|SLC30A6_uc010ymw.2_Missense_Mutation_p.L42F|SLC30A6_uc010ezr.2_Missense_Mutation_p.L71F|SLC30A6_uc002rog.2_Intron|SLC30A6_uc010ezs.2_Intron|SLC30A6_uc002roh.2_Intron	NM_001193513	NP_001180442	Q6NXT4	ZNT6_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), transcript variant 1, mRNA.	71						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CATTTTTGATCTTTTTAGGTA	0.313000														24			12		0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	876258	876258	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:876258G>A	uc003jbq.3	-	11	1508	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	BRD9_uc003jbl.3_Silent_p.I331I|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Silent_p.I394I|BRD9_uc003jbo.3_Silent_p.I351I|BRD9_uc003jbp.3_Silent_p.I108I|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	447							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CTCCGCCTGTGATCTGGTCCA	0.637000														35			16		0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50027944	50027944	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:50027944C>T	uc002pog.2	+	3	1004	c.782C>T	c.(781-783)tCg>tTg	p.S261L	FCGRT_uc002poe.2_Missense_Mutation_p.S261L|FCGRT_uc002pof.2_Missense_Mutation_p.S166L|FCGRT_uc010yax.2_3'UTR|FCGRT_uc002poh.2_Missense_Mutation_p.S121L|FCGRT_uc002poi.2_5'Flank|RCN3_uc002poj.3_5'Flank	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	261	Alpha-3.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CACGCCTCGTCGTCACTAACA	0.652000														49			13		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68404800	68404800	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:68404800C>T	uc002ewa.3	-	2	1707	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	SMPD3_uc010cfe.3_Missense_Mutation_p.D429N|SMPD3_uc010vlh.2_Missense_Mutation_p.D429N	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	429					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGGGCATCGTCGTTACACTTG	0.592000														30			13		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254940	24254940	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:24254940C>T	uc003xdz.2	+	5	818	c.598C>T	c.(598-600)Cga>Tga	p.R200*	ADAMDEC1_uc010lub.2_Nonsense_Mutation_p.R121*|ADAMDEC1_uc011lab.1_Nonsense_Mutation_p.R121*	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	200					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGCCCAATTCGAATCTCTAG	0.433000														145			69		0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987986	182987986	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:182987986C>T	uc003flm.3	+	1	923	c.400C>T	c.(400-402)Cct>Tct	p.P134S	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Missense_Mutation_p.P134S|B3GNT5_uc003fll.3_Missense_Mutation_p.P134S|B3GNT5_uc021xic.1_Missense_Mutation_p.P134S	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	134					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTTAGGAACTCCTAATCCACT	0.408000														66			30		0	0	1	0	0
C11orf84	144097	broad.mit.edu	37	11	63585827	63585827	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:63585827C>T	uc001nxt.3	+	2	833	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	Homo sapiens chromosome 11 open reading frame 84 (C11orf84), mRNA.	199	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TCCGCCCCCTCGAGCTTCCTG	0.597000														76			28		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2894668	2894668	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:2894668G>A	uc010ckd.3	+	11	981	c.891G>A	c.(889-891)acG>acA	p.T297T	RAP1GAP2_uc010cke.3_Silent_p.T282T	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	297	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGGGGACACGATCACACTGC	0.522000														8			6		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102338740	102338740	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:102338740G>A	uc003knt.3	+	15	1990	c.1617G>A	c.(1615-1617)tcG>tcA	p.S539S	PAM_uc003knw.3_Silent_p.S539S|PAM_uc003kns.3_Silent_p.S432S|PAM_uc003knu.3_Silent_p.S539S|PAM_uc011cuz.2_Silent_p.S442S|PAM_uc003knv.3_Silent_p.S539S|PAM_uc003knx.1_Silent_p.S142S	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	539	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTTTAGCTCGTTTGACAGCA	0.348000														31			11		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36932124	36932124	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:36932124G>A	uc001caw.2	-	16	2929	c.2345C>T	c.(2344-2346)cCc>cTc	p.P782L	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cav.2_Intron|CSF3R_uc001cax.2_Missense_Mutation_p.P809L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	782					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTGGGGCTGGGGGTGAGGCC	0.652000														21			5		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837011	196837011	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:196837011C>T	uc002utj.4	-	15	2114	c.2013G>A	c.(2011-2013)agG>agA	p.R671R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	671	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAATGATTTTCCTGTGTTCTT	0.328000														72			19		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228802	57228802	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:57228802C>T	uc010lyk.1	-	1	743	c.105G>A	c.(103-105)cgG>cgA	p.R35R	SDR16C5_uc003xsy.1_Silent_p.R35R|SDR16C5_uc010lyl.1_Silent_p.R35R	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	35					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAACGTTCTTCCGTGGCTTTG	0.458000														98			30		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747855	143747855	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:143747855G>A	uc011ktw.2	+	0	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GATGTCCTACGATCGGTACAT	0.468000														208			85		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109804975	109804975	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:109804975G>A	uc001dxa.4	+	5	4514	c.4453G>A	c.(4453-4455)Gat>Aat	p.D1485N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1485	Laminin G-like 1.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGTGACCGTGGATGGCTGTGA	0.617000														27			37		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426925	10426925	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:10426925C>T	uc010coi.3	-	36	5488	c.5360G>A	c.(5359-5361)cGg>cAg	p.R1787Q	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1787Q|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1787					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1787W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTCTTCATCCGCTCCAGGTG	0.517000														141			48		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701378	56701378	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:56701378C>T	uc010ygh.2	-	3	1306	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	436					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G435R(1)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACGGCCTCTCCCCGGTGTGG	0.562000														48			13		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73066682	73066682	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:73066682C>T	uc001otu.3	+	3	3579	c.3558C>T	c.(3556-3558)ctC>ctT	p.L1186L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1186	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTGCCTTTCTCAAGTTCCTAG	0.557000														52			18		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51757773	51757773	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:51757773C>T	uc010ufy.2	-	30	7821	c.7596G>A	c.(7594-7596)ctG>ctA	p.L2532L	DMXL2_uc002abd.3_Silent_p.L602L|DMXL2_uc002abf.3_Silent_p.L2531L|DMXL2_uc010bfa.3_Silent_p.L1895L	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2531						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAGAGAATTCCAGTCCAGCAA	0.338000														119			33		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159268	154159268	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:154159268C>T	uc004fmt.3	-	13	2968	c.2797G>A	c.(2797-2799)Gat>Aat	p.D933N		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	933	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATTGACTATCATAATGAACT	0.378000														38			35		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115524038	115524038	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:115524038C>T	uc001efr.3	+	28	2673	c.2464C>T	c.(2464-2466)Cga>Tga	p.R822*	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Nonsense_Mutation_p.R822*|SYCP1_uc009wgw.3_Nonsense_Mutation_p.R797*	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	822					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGTATCTCGAAATTTCAC	0.338000														88			25		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43119576	43119576	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:43119576G>A	uc009vwk.1	+	15	2339	c.2229G>A	c.(2227-2229)aaG>aaA	p.K743K	CCDC30_uc001chm.2_Silent_p.K441K|CCDC30_uc001chn.2_Silent_p.K532K	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	743										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						CAAGTTCAAAGTCCCCTGAAA	0.403000														61			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060020	9060020	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9060020G>A	uc002mkp.3	-	2	27630	c.27426C>T	c.(27424-27426)agC>agT	p.S9142S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9144	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGGCAGAGCTGGCTTCTT	0.493000														73			14		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499489	34499489	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:34499489G>A	uc003ojo.3	+	8	1408	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	PACSIN1_uc003ojp.3_Missense_Mutation_p.D384N	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	384					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTTTGAGGACGACTCCAAGGG	0.662000														126			64		0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15516110	15516110	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:15516110T>C	uc002gor.1	-	10	2294	c.1957A>G	c.(1957-1959)Aat>Gat	p.N653D	CDRT1_uc002gov.4_Missense_Mutation_p.N343D			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	343				A -> T (in Ref. 1; AAD10830).						endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTGGCATAATTAGGATCAATT	0.418000														82			42		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47886646	47886647	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:47886646_47886647AG>TA	uc003tny.2	-	31	5017_5018	c.4983_4984CT>TA	c.(4981-4986)tcctta>tcTAta	p.L1662I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1662					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCATCCAATAAGGATAAATAGC	0.391000														21			15		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79410080	79410080	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:79410080C>T	uc002kaf.2	+	3	1519	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	569							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCGCAAGTCCCTGGAGCTGGC	0.701000														28			15		0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64671363	64671363	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:64671363G>A	uc001dbn.1	+	1	352	c.108G>A	c.(106-108)tgG>tgA	p.W36*		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	36							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						TGATGGAATGGGAAGTTGAAA	0.289000														79			18		0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120446608	120446608	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:120446608G>A	uc003vjk.3	-	6	981	c.607C>T	c.(607-609)Caa>Taa	p.Q203*	TSPAN12_uc010lkj.3_Nonsense_Mutation_p.Q76*	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	203					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CTCACCTCTTGATAAAGGTCA	0.398000														34			14		0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80091888	80091888	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:80091888C>T	uc011kgu.2	-	5	650	c.650G>A	c.(649-651)gGa>gAa	p.G217E	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	217					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GCATGTAACTCCTTCAAAGCA	0.378000														40			22		0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27572012	27572012	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:27572012C>T	uc001zbg.2	+	3	581	c.327C>T	c.(325-327)ttC>ttT	p.F109F	GABRG3_uc001zbf.3_Silent_p.F109F	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	109					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F109F(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GCCTTCGATTCAACAGCACAA	0.423000														112			36		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102503334	102503334	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:102503334C>T	uc003pqp.4	+	14	2734	c.2441C>T	c.(2440-2442)gCc>gTc	p.A814V	GRIK2_uc010kcw.3_Missense_Mutation_p.A814V|GRIK2_uc003pqo.4_Missense_Mutation_p.A814V|GRIK2_uc021zdk.1_Missense_Mutation_p.A627V|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	814					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAGGCCAGTGCCCTGGGGGTT	0.483000														100			35		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70532143	70532143	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:70532143C>A	uc002lkw.3	-	2	404	c.120G>T	c.(118-120)caG>caT	p.Q40H	NETO1_uc002lky.2_Missense_Mutation_p.Q40H|NETO1_uc002lkz.3_Missense_Mutation_p.Q39H	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	40					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAGTTCCACACTGCACTGACT	0.388000														45			14		1.36491e-13	1.38768e-13	1	1	0
FAT3	120114	broad.mit.edu	37	11	92532485	92532485	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:92532485G>A	uc001pdj.4	+	8	6323	c.6306G>A	c.(6304-6306)ctG>ctA	p.L2102L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2102	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGGGACTCTGATTTATCAGG	0.443000										TCGA Ovarian(4;0.039)				18			36		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35873639	35873639	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:35873639G>A	uc003jjs.3	+	4	684	c.595G>A	c.(595-597)Gca>Aca	p.A199T	IL7R_uc011coo.2_Missense_Mutation_p.A199T|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	199	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCAACCGGCAGCAATGTATGA	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							54			22		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329477	56329477	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:56329477C>T	uc010ygf.2	-	3	775	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	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.	22	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)		CTCTGAAATTCCTTGTCACTG	0.433000														55			29		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436323	248436323	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:248436323G>A	uc010pzi.2	-	0	794	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGTTAGTGGACCTATGGGA	0.483000														285			10		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582572	136582572	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:136582572C>T	uc003qgx.1	-	11	2841	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E	BCLAF1_uc011edb.1_Missense_Mutation_p.G142E|BCLAF1_uc003qgy.1_Missense_Mutation_p.G812E|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G861E|BCLAF1_uc003qgw.1_Missense_Mutation_p.G690E	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	863					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.G863E(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACGACCTCTTCCTCTTTTGGC	0.408000														265			48		0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55749278	55749278	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:55749278G>A	uc002ryx.2	+	2	429	c.231G>A	c.(229-231)gaG>gaA	p.E77E	CCDC104_uc002ryy.2_Silent_p.E52E	NM_080667	NP_542398	Q96G28	CC104_HUMAN	Homo sapiens coiled-coil domain containing 104 (CCDC104), mRNA.	52										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCTATACAGAGATTCATCAGG	0.234000														16			6		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127253124	127253124	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:127253124C>T	uc010lld.1	-	5	849	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	PAX4_uc003vmf.2_Missense_Mutation_p.A213T|PAX4_uc003vmg.1_Missense_Mutation_p.A215T|PAX4_uc003vmh.3_Missense_Mutation_p.A213T	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	223					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCCATTTGGCTCTTCTGTTG	0.527000														54			14		0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945062	55945062	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:55945062C>T	uc010spp.2	+	0	52	c.52C>T	c.(52-54)Caa>Taa	p.Q18*		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTACAAATCAACCTGAACT	0.388000														131			46		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	195564	195564	+	RNA	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:195564C>T	uc003fzu.1	+	4		c.657C>T						Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TACCTGATTCCATGCCACTGG	0.418000														10			5		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150721039	150721039	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:150721039C>T	uc011kvc.2	-	0	548	c.472G>A	c.(472-474)Gac>Aac	p.D158N	ATG9B_uc003wig.4_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	158					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTCAGGGTCACAGTCCTCC	0.632000														9			3		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31685104	31685104	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:31685104G>A	uc010dmi.3	-	2	733	c.435C>T	c.(433-435)ttC>ttT	p.F145F	NOL4_uc002kxr.4_5'UTR|NOL4_uc010xbt.2_Silent_p.F71F|NOL4_uc010dmh.3_Silent_p.F71F|NOL4_uc010xbu.2_Silent_p.F145F|NOL4_uc002kxt.4_Silent_p.F145F	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	145						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTCTTGGTAGGAAGGCATAGC	0.383000														73			32		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739810	119739810	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:119739810C>A	uc002tln.1	+	10	1112	c.980C>A	c.(979-981)gCt>gAt	p.A327D	MARCO_uc010yyf.1_Missense_Mutation_p.A249D	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	327	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCTGGCAGTGCTGGCTCCCCT	0.612000														81			17		1.15088e-07	1.15983e-07	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17464352	17464352	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:17464352C>T	uc001mnc.3	-	9	1671	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	ABCC8_uc010rcy.1_Silent_p.E514E	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	515	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGAAGATGTTCTCCCAGGCGT	0.597000														77			26		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885216	13885216	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:13885216G>A	uc003jfd.2	-	18	2907	c.2865C>T	c.(2863-2865)gcC>gcT	p.A955A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	955	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTAACTCGCGGGCTTCTTCCC	0.443000									Kartagener syndrome					73			28		0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42931065	42931065	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:42931065T>A	uc002otr.3	-	0	514	c.237A>T	c.(235-237)caA>caT	p.Q79H	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	79					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AAGCAGATTTTTGTTGGGCTC	0.517000														176			68		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69320665	69320665	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:69320665G>A	uc002ars.2	+	2	326	c.285G>A	c.(283-285)atG>atA	p.M95I	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.M77I|NOX5_uc002arp.2_Missense_Mutation_p.M77I|NOX5_uc010bid.2_Missense_Mutation_p.M88I|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Missense_Mutation_p.M95I	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	95	EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	p.Q95*(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCAGCCCCATGGACAAACTCA	0.557000														100			39		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7695570	7695570	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:7695570G>A	uc002giu.1	+	45	7068	c.7054_splice	c.e45-1	p.D2352_splice		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2352					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCTCCTTAGGACACGGTATA	0.522000														59			17		0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33744783	33744783	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:33744783G>A	uc011drm.2	-	7	1322	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	LEMD2_uc010jvg.3_Missense_Mutation_p.P146S|LEMD2_uc011drl.2_Missense_Mutation_p.P135S	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	437						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CCTACATATGGATAGCGCTCC	0.617000														83			31		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21501012	21501012	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:21501012C>T	uc002kuq.3	+	60	8123	c.8037C>T	c.(8035-8037)gaC>gaT	p.D2679D	LAMA3_uc002kur.3_Silent_p.D2623D|LAMA3_uc002kus.4_Silent_p.D1070D|LAMA3_uc002kut.4_Silent_p.D1014D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2679	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGCAGAGACCATTCGGTAC	0.383000														46			14		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39646194	39646194	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:39646194C>T	uc003xnj.3	-	7	711	c.636G>A	c.(634-636)acG>acA	p.T212T	ADAM2_uc003xnk.3_Silent_p.T193T|ADAM2_uc011lck.2_Silent_p.T212T|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	212	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTACAGCATTCGTCAATCCAA	0.318000														35			12		0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930587	68930587	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:68930587C>T	uc003hdt.1	-	7	880	c.831G>A	c.(829-831)agG>agA	p.R277R	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron|SYT14L_uc010ihn.3_5'Flank|SYT14L_uc021xou.1_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	277	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAATAATTTTCCTCACATTTC	0.343000														26			11		0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28843876	28843876	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:28843876A>C	uc002dqy.3	+	11	1743	c.1576A>C	c.(1576-1578)Ata>Cta	p.I526L	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.I526L|ATXN2L_uc002dra.3_Missense_Mutation_p.I526L|ATXN2L_uc002drb.3_Missense_Mutation_p.I526L|ATXN2L_uc002drc.3_Missense_Mutation_p.I526L|ATXN2L_uc010vdb.2_Missense_Mutation_p.I532L|ATXN2L_uc002dre.3_Missense_Mutation_p.I526L|ATXN2L_uc002drf.3_5'UTR|ATXN2L_uc002drg.3_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	526						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCTGGCTCGGATAGCTGGGAA	0.468000														103			45		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148891677	148891677	+	RNA	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:148891677C>T	uc009wkv.1	+	8		c.979C>T								Homo sapiens cDNA, FLJ17483.																		GCGTGGCCATCCTTCAGACCC	0.393000														95			10		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60704807	60704807	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:60704807G>A	uc001nqn.2	-	7	1864	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	SLC15A3_uc001nqo.2_3'UTR	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	544					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CCAGCCAGCAGGAAGAAGTAG	0.592000														56			33		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848865	73848865	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:73848865G>A	uc003xzb.3	+	2	1863	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	425					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGTTTTACAAGGAGCAGAAAC	0.438000														102			25		0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85106555	85106555	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:85106555G>A	uc002fiu.3	+	3	674	c.454G>A	c.(454-456)Gag>Aag	p.E152K	KIAA0513_uc010voj.2_Missense_Mutation_p.E152K|KIAA0513_uc002fit.3_Missense_Mutation_p.E152K	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	152						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GTGTGTCTCAGAGGCAACCTT	0.547000														66			25		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42279460	42279460	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:42279460G>A	uc021sjp.1	-	16	1945	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	PLA2G4E_uc010udc.2_Missense_Mutation_p.R92W|PLA2G4E_uc001zov.2_Missense_Mutation_p.R273W	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	637	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACGAAGGACCGATGGGTAAGG	0.517000														42			20		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580990	7580990	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:7580990G>A	uc003mxp.1	+	22	4846	c.4567G>A	c.(4567-4569)Gag>Aag	p.E1523K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1523	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAGTGCGACGGAGACAATAAA	0.468000														103			30		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698469	17698469	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:17698469C>T	uc002rcl.1	-	0	1238	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	RAD51AP2_uc010exn.1_Missense_Mutation_p.R396K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	405										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTCTATTTCTTCTCAAAAT	0.313000														46			13		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215171	3215171	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:3215171G>A	uc002klp.3	-	1	385	c.51C>T	c.(49-51)taC>taT	p.Y17Y	MYOM1_uc002klq.3_Silent_p.Y17Y	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	17						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCTTGTTGCGGTAGCTGAGAT	0.567000														16			5		0	0	1	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066218	153066218	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:153066218G>A	uc021ozs.1	-	0	10	c.10C>T	c.(10-12)Caa>Taa	p.Q4*	SPRR2A_uc001fbf.3_Intron|SPRR2E_uc001fbh.3_Nonsense_Mutation_p.Q4*	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	Homo sapiens small proline-rich protein 2E (SPRR2E), mRNA.	4					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGCTGTTGATAAGACATC	0.542000														70			36		0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11076096	11076096	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:11076096C>T	uc003sry.2	+	8	2106	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	PHF14_uc011jxi.2_Nonsense_Mutation_p.R267*|PHF14_uc011jxj.2_Nonsense_Mutation_p.R267*	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	552							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAACTAGCTCGATCTACCAG	0.433000														38			8		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160676315	160676315	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:160676315C>T	uc002ubb.4	-	28	4149	c.4075G>A	c.(4075-4077)Gat>Aat	p.D1359N	LY75-CD302_uc010fos.3_Missense_Mutation_p.D1359N|LY75-CD302_uc002ubc.4_Missense_Mutation_p.D1359N	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1359	C-type lectin 8.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GTTTGAATATCCCAGAAGCCG	0.353000														77			27		0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20458107	20458107	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:20458107G>A	uc002rds.1	-	14	2399	c.2381C>T	c.(2380-2382)gCc>gTc	p.A794V	PUM2_uc002rdq.1_Missense_Mutation_p.A171V|PUM2_uc002rdt.1_Missense_Mutation_p.A794V|PUM2_uc002rdr.2_Missense_Mutation_p.A654V|PUM2_uc010yjy.1_Missense_Mutation_p.A715V|PUM2_uc002rdu.1_Missense_Mutation_p.A794V|PUM2_uc010yjz.1_Missense_Mutation_p.A733V	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	794	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTAGCCAGGGCTAATTTTTG	0.398000														50			30		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589810	156589810	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:156589810C>T	uc003lwn.3	-	1	1566	c.1466G>A	c.(1465-1467)aGg>aAg	p.R489K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	489						nucleus		p.V488I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGCTTGCCCCTTACGTTGCT	0.517000														137			36		0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49885024	49885024	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:49885024C>T	uc001vcw.3	-	8	1438	c.940G>A	c.(940-942)Gat>Aat	p.D314N	CAB39L_uc001vcx.3_Missense_Mutation_p.D314N|CAB39L_uc010adf.3_Missense_Mutation_p.D311N	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	314					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGCTCATCATCCGTCCTTTCT	0.478000														153			60		0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340039	29340039	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:29340039G>A	uc002kxa.2	-	0	805	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	196					transport	integral to membrane|mitochondrial inner membrane											TCCTTAATGGGACCTCGAAGG	0.478000														112			32		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751766	247751766	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:247751766G>A	uc010pyy.2	+	0	105	c.105G>A	c.(103-105)ttG>ttA	p.L35L		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGCTCATATTGATTCTGTATT	0.398000														145			79		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754805	54754805	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:54754805G>A	uc010yer.1	-	12	1941	c.1830C>T	c.(1828-1830)ccC>ccT	p.P610P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	0					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCTGCAGCGGGGGAGAGTGA	0.622000														48			16		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61946647	61946647	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:61946647G>A	uc001jky.3	-	16	2249	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	ANK3_uc010qih.2_Silent_p.I620I|ANK3_uc001jkz.4_Silent_p.I631I|ANK3_uc001jlb.1_Silent_p.I166I|ANK3_uc001jlc.1_Silent_p.I298I	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	637					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTGGCAGCGATGTGCAGTG	0.458000														80			27		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527054	132527054	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:132527054C>T	uc010sck.2	-	1	378	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	OPCML_uc001qgu.3_Missense_Mutation_p.E103K|OPCML_uc001qgs.3_Missense_Mutation_p.E110K|OPCML_uc001qgt.3_Missense_Mutation_p.E110K|OPCML_uc010scl.2_Missense_Mutation_p.E69K	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	110	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.E110K(2)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TACGGACCTTCGTCATACACA	0.512000														80			33		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460296	142460296	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:142460296G>A	uc003wak.2	+	3	486	c.469G>A	c.(469-471)Gag>Aag	p.E157K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.E97K	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	157	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTACCCAGACGAGCTGCAGTG	0.507000														372			17		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245514	166245514	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:166245514C>T	uc002udc.3	+	26	5488	c.5198C>T	c.(5197-5199)cCt>cTt	p.P1733L	SCN2A_uc002udd.3_Missense_Mutation_p.P1733L|SCN2A_uc002ude.3_Missense_Mutation_p.P1733L|SCN2A_uc021vry.1_Missense_Mutation_p.P233L	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1733					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GACTGTGACCCTGACAAAGAT	0.453000														241			75		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538286	31538286	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:31538286C>T	uc010dmi.3	-	6	1451	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	NOL4_uc010xbs.2_Missense_Mutation_p.E100K|NOL4_uc002kxr.4_Missense_Mutation_p.E221K|NOL4_uc010xbt.2_Missense_Mutation_p.E311K|NOL4_uc010dmh.3_Missense_Mutation_p.E311K|NOL4_uc010xbu.2_Missense_Mutation_p.E385K|NOL4_uc002kxt.4_Missense_Mutation_p.E385K|NOL4_uc010xbv.1_Missense_Mutation_p.E134K	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	385						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGGTCATCTTCGTCCTCATCT	0.502000														155			53		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047236	67047236	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:67047236A>T	uc003xvv.3	+	2	579	c.353A>T	c.(352-354)aAa>aTa	p.K118I	TRIM55_uc003xvu.3_Missense_Mutation_p.K118I|TRIM55_uc003xvw.3_Missense_Mutation_p.K118I|TRIM55_uc003xvx.3_Missense_Mutation_p.K118I	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	118						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCAGAAAAGAAATCCGACCAG	0.512000														37			23		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76423318	76423318	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:76423318C>T	uc021rkq.1	+	26	4589	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	LMO7_uc010thv.2_Silent_p.I1136I|LMO7_uc001vjv.3_Silent_p.I1185I|LMO7_uc010thw.2_Silent_p.I1062I	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1470						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGCAACAAATCCTTCAGGAAA	0.453000														39			20		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937554	6937554	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:6937554G>A	uc002mfw.3	+	20	2589	c.2551_splice	c.e20-1	p.V851_splice	EMR1_uc010dvc.3_Splice_Site_p.V786_splice|EMR1_uc010dvb.3_Splice_Site_p.V832_splice|EMR1_uc010xji.2_Splice_Site_p.V710_splice|EMR1_uc010xjj.2_Splice_Site_p.V674_splice	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	851					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCTTCTCCAGGTACGAGAAG	0.577000														112			38		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417333	100417334	+	Missense_Mutation	DNP	GG	AA	AA	rs2289058	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:100417333_100417334GG>AA	uc003uwn.1	-	5	1633_1634	c.1142_1143CC>TT	c.(1141-1143)ccc>cTT	p.P381L	EPHB4_uc003uwm.1_Missense_Mutation_p.P288L|EPHB4_uc010lhj.1_Missense_Mutation_p.P381L|EPHB4_uc011kkf.1_Missense_Mutation_p.P381L|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.P381L	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	381	Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCGGGGGCCGGGGTCAAAAGT	0.658000														30			11		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186442	95186442	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:95186442G>A	uc003ygh.2	-	5	596	c.471C>T	c.(469-471)gcC>gcT	p.A157A	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.A157A	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	157	Cadherin 2.					integral to membrane	calcium ion binding	p.P156Q(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTGGGAGTGGCCGGATCAT	0.418000														165			60		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50900658	50900658	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:50900658G>C	uc003blh.3	-	18	2567	c.2372C>G	c.(2371-2373)gCc>gGc	p.A791G	SBF1_uc011arx.2_Missense_Mutation_p.A455G|SBF1_uc003bli.2_Missense_Mutation_p.A792G	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	791					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCTGTTGCTGGCGCTCTCCAG	0.667000														67			28		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56435906	56435906	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:56435906G>A	uc003xsf.3	+	2	1105	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	358						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AAGGCCCTCCGGGACTCTCGA	0.577000														54			25		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43414039	43414039	+	Silent	SNP	C	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:43414039C>A	uc003ouy.1	+	15	3614	c.3399C>A	c.(3397-3399)ctC>ctA	p.L1133L	ABCC10_uc003ouz.1_Silent_p.L1105L|ABCC10_uc010jyo.1_Silent_p.L239L	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1133	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACCTGCGACTCCTTGAGCTAA	0.597000														91			33		4.3181e-19	4.4031e-19	1	1	0
FAM90A1	55138	broad.mit.edu	37	12	8374849	8374849	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:8374849C>T	uc001qui.2	-	6	1523	c.964G>A	c.(964-966)Gga>Aga	p.G322R	FAM90A1_uc001quh.2_Missense_Mutation_p.G322R	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	322							nucleic acid binding|zinc ion binding	p.G322R(2)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGCTCACCTCCCTGGATGGCG	0.637000														30			18		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3598685	3598685	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:3598685G>T	uc010btn.3	-	14	3080	c.2669C>A	c.(2668-2670)aCc>aAc	p.T890N	NLRC3_uc010bto.1_Intron	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	891					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAGGTGAGGGTGCGGTTTTC	0.627000														7			3		6.4e-05	6.41238e-05	1	1	0
ZNF606	80095	broad.mit.edu	37	19	58490716	58490716	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:58490716C>T	uc002qqw.3	-	6	1950	c.1332G>A	c.(1330-1332)acG>acA	p.T444T	ZNF606_uc010yhp.2_Silent_p.T354T	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GTTCATGTTTCGTAAGGGCTG	0.363000														34			19		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90020670	90020670	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:90020670C>T	uc003kju.3	+	45	9866	c.9770C>T	c.(9769-9771)tCc>tTc	p.S3257F	GPR98_uc003kjt.3_Missense_Mutation_p.S963F|GPR98_uc003kjv.3_Missense_Mutation_p.S857F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3257					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGTGTTTTCCGTATTTCAA	0.289000														84			32		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589940	156589940	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:156589940G>A	uc003lwn.3	-	1	1436	c.1336C>T	c.(1336-1338)Cac>Tac	p.H446Y		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	446						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCTTGCGGTGATGAGAACTT	0.502000														139			63		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11348193	11348193	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:11348193G>A	uc002mqs.4	-	17	2053	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	DOCK6_uc010xlq.2_5'UTR|C19orf80_uc021upf.1_Non-coding_Transcript|C19orf80_uc010dxw.3_5'UTR|C19orf80_uc021upg.1_5'Flank	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	671	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GAGACAGAAGGGGCCGGTCCT	0.672000														52			21		0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130871272	130871272	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:130871272C>T	uc003eny.3	+	7	1014	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	NEK11_uc003enx.3_Missense_Mutation_p.H230Y|NEK11_uc003eoa.3_Missense_Mutation_p.H230Y|NEK11_uc003enz.3_Missense_Mutation_p.H48Y|NEK11_uc011blk.2_Missense_Mutation_p.H82Y|NEK11_uc011bll.2_Intron|NEK11_uc011blm.2_Missense_Mutation_p.H230Y|NEK11_uc010hto.2_Missense_Mutation_p.H82Y	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	230	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.H230D(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTGCATGAATCATGCATTCGC	0.343000														83			34		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088437	92088437	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:92088437G>A	uc001pdj.4	+	0	3176	c.3159G>A	c.(3157-3159)aaG>aaA	p.K1053K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1053	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATCTGTAAAGGAAAACTCAC	0.493000										TCGA Ovarian(4;0.039)				28			38		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10971334	10971334	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:10971334G>A	uc002yip.1	-	4	391	c.23C>T	c.(22-24)aCt>aTt	p.T8I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.T8I|TPTE_uc002yir.1_Missense_Mutation_p.T8I|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	8					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCCAGGTCAGTCGGATCAGG	0.448000														53			6		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182322468	182322468	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:182322468G>A	uc002unu.3	+	0	850	c.87G>A	c.(85-87)ccG>ccA	p.P29P	ITGA4_uc010zfl.1_Silent_p.P29P	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	29					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGGGGGTCCCGACCGGCCGCC	0.701000														12			12		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163693142	163693142	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:163693142C>T	uc002uch.2	-	1	441	c.212G>A	c.(211-213)gGa>gAa	p.G71E	KCNH7_uc002uci.3_Missense_Mutation_p.G71E	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	71					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGTCTCGGGTCCATGGAGAAA	0.483000														27			11		0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2566951	2566951	+	Silent	SNP	G	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:2566951G>T	uc002klh.4	-	1	1045	c.265C>A	c.(265-267)Cga>Aga	p.R89R		NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	Homo sapiens methyltransferase like 4 (METTL4), mRNA.	89					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGTTCAGGTCGAAAAACAAAT	0.378000														74			26		9.80776e-20	1.00107e-19	1	1	0
DSEL	92126	broad.mit.edu	37	18	65180989	65180989	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:65180989G>A	uc002lke.1	-	1	2111	c.887C>T	c.(886-888)tCc>tTc	p.S296F	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.S296F	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	286						integral to membrane	isomerase activity|sulfotransferase activity	p.S296S(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTGTGTGACGGATTTAGCTGT	0.393000														84			37		0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67313980	67313980	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:67313980C>T	uc010cef.3	+	1	332	c.33C>T	c.(31-33)tcC>tcT	p.S11S	PLEKHG4_uc002eso.4_Silent_p.S11S|PLEKHG4_uc002esp.4_5'UTR|PLEKHG4_uc002esq.4_Silent_p.S11S|PLEKHG4_uc002esr.1_Silent_p.S11S|PLEKHG4_uc002ess.4_Silent_p.S11S|PLEKHG4_uc010ceg.3_Silent_p.S11S	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	11					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.S11F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGGATGAGTCCCCAGACTCTC	0.617000														36			13		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719540	140719540	+	Silent	SNP	C	T	T	rs149528645		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140719540C>T	uc003ljk.2	+	0	1187	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.I334I	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	337	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAGGTTATCGTCACGGTTC	0.428000														151			57		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511583	61511583	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:61511583C>T	uc001nsa.3	+	19	2867	c.2751C>T	c.(2749-2751)atC>atT	p.I917I		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	917					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCGAGTTCATCGACAGCCTCT	0.667000														48			22		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784682	9784682	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:9784682C>T	uc003gmb.4	+	0	1425	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	343					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTTCGACGTCTTCGTCTGGT	0.597000														125			28		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164489	139164489	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:139164489G>A	uc003yuy.3	-	12	2400	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	FAM135B_uc003yux.3_Silent_p.I644I|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.I305I|FAM135B_uc003yvb.3_Silent_p.I305I	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	743										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAGAAGCCTGGATGCCGCTTG	0.517000										HNSCC(54;0.14)				49			20		0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78401636	78401636	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:78401636G>A	uc010ums.1	-	3	608	c.287C>T	c.(286-288)tCc>tTc	p.S96F	CIB2_uc002bdb.1_Missense_Mutation_p.S96F|CIB2_uc002bdc.1_Missense_Mutation_p.S53F	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	96	EF-hand 1.						calcium ion binding	p.S96F(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GCAGAGCACGGAAAACATGTC	0.532000														53			14		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62462739	62462739	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:62462739T>G	uc001xfu.1	+	0	199	c.2T>G	c.(1-3)aTg>aGg	p.M1R	SYT16_uc010tsd.1_Missense_Mutation_p.M1R	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	1										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TAGCTGGCCATGGTGTTGGCC	0.443000														35			10		0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75375609	75375609	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:75375609C>T	uc010tux.2	-	8	1915	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_Missense_Mutation_p.G205E|RPS6KL1_uc021rwp.1_Missense_Mutation_p.E432K	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	463	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TCACAGGCTTCCGTCAGCTCG	0.582000														58			20		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053842	50053842	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:50053842C>T	uc004dox.4	+	5	2971	c.2673C>T	c.(2671-2673)atC>atT	p.I891I	CCNB3_uc004doy.3_Silent_p.I891I|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	891					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGACCATCTTCAAGGAGT	0.498000														31			31		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737658	247737658	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:247737658G>A	uc001idf.3	+	4	529	c.382G>A	c.(382-384)Gat>Aat	p.D128N	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	128										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCATGAGCATGATTATGAAGT	0.438000														64			44		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723916	39723916	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:39723916C>T	uc002hxe.4	-	6	1547	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	494	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				atagctgcctccacttcctcc	0.557000														20			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594547	179594547	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:179594547C>T	uc021vsy.1	-	59	14926	c.14701G>A	c.(14701-14703)Gaa>Aaa	p.E4901K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1562K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5828	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTTATTTCATTCCCGTCT	0.428000														68			26		0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121476001	121476001	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:121476001G>A	uc003ypc.1	+	10	1092	c.1047_splice	c.e10+1	p.K349_splice	MTBP_uc011lie.1_Splice_Site	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	349					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGTGTAGCAAGGTATTGAGGG	0.348000														131			54		0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60689771	60689771	+	Silent	SNP	T	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:60689771T>C	uc010ddp.3	+	22	2432	c.2164T>C	c.(2164-2166)Ttg>Ctg	p.L722L	TLK2_uc002izx.4_Silent_p.L548L|TLK2_uc002izz.4_Silent_p.L700L|TLK2_uc002jaa.4_Silent_p.L668L|TLK2_uc010wpd.2_Silent_p.L668L	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	722	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TCGACGATGCTTGGCCTACCG	0.542000														49			27		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70971075	70971075	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:70971075A>C	uc003xym.3	-	5	1388	c.1186T>G	c.(1186-1188)Tct>Gct	p.S396A		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CCTTCTGCAGACTCTGTCAAA	0.398000														42			18		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65165729	65165729	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:65165729C>T	uc003hcv.3	-	7	846	c.737G>A	c.(736-738)gGa>gAa	p.G246E		NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	246					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTGCCTGTTTCCAAATGCTGG	0.299000														94			45		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1013972	1013972	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:1013972C>T	uc001lsw.2	-	31	7120	c.7069G>A	c.(7069-7071)Gag>Aag	p.E2357K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2357	CTCK.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACGTGATCTCCTCCTGCTGC	0.662000														5			4		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36698091	36698091	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:36698091C>T	uc010lvw.3	+	14	1716	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	543	Segment S8.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGAAGTTGCCCGGTAAGTGA	0.428000														27			7		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038976	41038976	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:41038976C>T	uc003jmj.4	-	20	2566	c.2076G>A	c.(2074-2076)ggG>ggA	p.G692G	HEATR7B2_uc003jmi.4_Silent_p.G247G	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	692							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GGCTCTTTTTCCCAGAAAAAA	0.438000														55			14		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72147103	72147103	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:72147103G>A	uc021rkj.1	-	3	1597	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	442					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGCTGACAGGAATTAGAGGG	0.438000														44			18		0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27406903	27406903	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:27406903G>A	uc001mrj.4	-	4	999	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	LGR4_uc001mrk.4_Missense_Mutation_p.P148S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	172						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TTGCTGAGGGGGTGCACAGGC	0.527000														68			29		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323552	29323552	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:29323552A>G	uc011dlo.2	-	0	503	c.421T>C	c.(421-423)Tgc>Cgc	p.C141R		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATTGATTGCATAGAACCTTG	0.448000														88			21		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37680975	37680975	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:37680975G>A	uc002ofq.3	-	2	402	c.150C>T	c.(148-150)aaC>aaT	p.N50N	ZNF585B_uc002ofr.1_5'UTR	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCGGTACAGGTTTCTCTGAG	0.517000														71			22		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22891015	22891015	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:22891015G>A	uc002zwf.3	-	4	1160	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.S319L|PRAME_uc010gtr.3_Missense_Mutation_p.S335L|PRAME_uc002zwg.3_Missense_Mutation_p.S335L|PRAME_uc002zwh.3_Missense_Mutation_p.S335L|PRAME_uc002zwi.3_Missense_Mutation_p.S335L|PRAME_uc002zwj.3_Missense_Mutation_p.S335L|PRAME_uc002zwk.3_Missense_Mutation_p.S335L	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	335					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATCCCCTTCCGAAAGCCGGCA	0.542000														138			68		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101084398	101084398	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:101084398C>T	uc003yjb.1	-	4	595	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Missense_Mutation_p.E134K|RGS22_uc011lgz.1_5'Flank|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.E38K	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	134					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAATCACTTTCCAGAAATGCT	0.338000														62			24		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3024175	3024175	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:3024175C>T	uc003ggn.1	+	9	1422	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C	GRK4_uc003ggo.1_Missense_Mutation_p.R323C|GRK4_uc003ggp.1_Missense_Mutation_p.R291C|GRK4_uc003ggq.1_Missense_Mutation_p.R291C	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	323	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R323C(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTTGATGATCGTGGTAAGTG	0.423000														114			48		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67698438	67698438	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:67698438G>C	uc001stn.2	+	8	1784	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N	CAND1_uc001sto.2_Missense_Mutation_p.K127N	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	449					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AAAGTGTGAAGACCCGACAGT	0.388000														46			25		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87362404	87362404	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:87362404C>T	uc001kdl.1	-	15	2757	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.E457K|LOC100507470_uc001kdk.2_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	886						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCAATGTCTTCATCCATGAGG	0.587000										Multiple Myeloma(13;0.14)				16			9		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67049401	67049401	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:67049401G>A	uc003xvv.3	+	3	805	c.579G>A	c.(577-579)ctG>ctA	p.L193L	TRIM55_uc003xvu.3_Silent_p.L193L|TRIM55_uc003xvw.3_Silent_p.L193L|TRIM55_uc003xvx.3_Silent_p.L193L	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	193						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCAGCCAGCTGGAAGACACCT	0.522000														51			19		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137688727	137688727	+	Missense_Mutation	SNP	C	T	T	rs141301771		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:137688727C>T	uc004cfe.3	+	35	3260	c.2878C>T	c.(2878-2880)Cct>Tct	p.P960S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	960	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P960S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CACAGGATTTCCTGGACCAAA	0.597000														42			16		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700489	7700489	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:7700489G>A	uc001aoi.3	+	6	747	c.540G>A	c.(538-540)ctG>ctA	p.L180L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCACTACCTGAACGTGCCGG	0.632000			T	WWTR1	epitheliod hemangioendothelioma									45			28		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	37903742	37903742	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:37903742G>A	uc003gtb.3	+	1	384	c.26G>A	c.(25-27)aGg>aAg	p.R9K	TBC1D1_uc011byd.2_Missense_Mutation_p.R9K|TBC1D1_uc010ifd.3_Missense_Mutation_p.R9K	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	9						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTCACAGCAAGGAAACATCTG	0.488000														107			42		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457349	124457349	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:124457349G>A	uc001lgn.3	-	2	940	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	303										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTCTCTCCGTGATATAAAATC	0.428000														98			33		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043938	74043938	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:74043938C>T	uc002sjr.1	+	2	2709	c.2588C>T	c.(2587-2589)cCt>cTt	p.P863L		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	863								p.A863S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCCACTGTTCCTGAGCCAGTA	0.522000														57			25		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670162	8670162	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:8670162G>A	uc002mkj.1	-	3	444	c.170C>T	c.(169-171)tCg>tTg	p.S57L	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	57					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGGAGGTGGCGAGAAGGCCAG	0.662000														19			11		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731573	141731573	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:141731573G>A	uc003vwy.3	+	12	1618	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	522	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAATCAAGTAGAGTTTGATGG	0.383000														71			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068217	9068217	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9068217G>A	uc002mkp.3	-	2	19433	c.19229C>T	c.(19228-19230)tCc>tTc	p.S6410F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6412	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTTGGATGGATGTTCTGCT	0.488000														102			43		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865248	148865249	+	Missense_Mutation	DNP	CC	TT	TT	rs139892427		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:148865248_148865249CC>TT	uc003qme.1	+	17	3117_3118	c.2642_2643CC>TT	c.(2641-2643)ccc>cTT	p.P881L	SASH1_uc011eeb.1_Missense_Mutation_p.P642L|SASH1_uc003qmf.1_Missense_Mutation_p.P291L	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	881							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AAGGCCCAGCCCCTGGAGCAAG	0.535000														203			45		0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509920	63509920	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:63509920C>T	uc003jti.3	+	3	877	c.767C>T	c.(766-768)tCc>tTc	p.S256F	RNF180_uc003jth.4_Missense_Mutation_p.S256F|RNF180_uc010iws.3_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA.	256						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ACTGCCTATTCCAGACTAAAT	0.348000														95			39		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812213	156812213	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:156812213G>A	uc010pht.2	-	17	3513	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1072	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCAAAGATCGAAGATGGCTC	0.592000														102			32		0	0	1	0	0
DEPDC7	91614	broad.mit.edu	37	11	33053943	33053943	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:33053943C>T	uc001mub.3	+	5	1148	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	DEPDC7_uc001muc.3_Silent_p.F343F	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA.	352					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTTTAGATTTCCAAAATAGAG	0.333000														95			43		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417763	57417763	+	Silent	SNP	C	T	T	rs148088012		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:57417763C>T	uc001cyp.3	-	4	691	c.624G>A	c.(622-624)acG>acA	p.T208T	C8B_uc010oon.2_Silent_p.T146T|C8B_uc010ooo.2_Silent_p.T156T	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	208	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCTAAACCTCGTGTTCAGGA	0.512000														136			47		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3137042	3137042	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:3137042G>A	uc011ask.2	-	8	1440	c.796C>T	c.(796-798)Cca>Tca	p.P266S	IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.P266S|IL5RA_uc011asl.2_Missense_Mutation_p.P266S|IL5RA_uc011asm.1_Missense_Mutation_p.P266S|IL5RA_uc010hbt.2_Missense_Mutation_p.P266S|IL5RA_uc011asn.1_Missense_Mutation_p.P266S|IL5RA_uc010hbu.2_Missense_Mutation_p.P266S|IL5RA_uc010hbp.3_5'Flank	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	266					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAATGGATTGGAAAAGCAGAC	0.353000														34			16		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949939	38949939	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:38949939G>A	uc002oit.3	+	18	2451	c.2321G>A	c.(2320-2322)gGg>gAg	p.G774E	RYR1_uc002oiu.3_Missense_Mutation_p.G774E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	774	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D773Y(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AACCTGGACGGGCTCTTCTTC	0.602000														32			20		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141726990	141726990	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:141726990G>A	uc003vwy.3	+	8	1112	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	353	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.G353E(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGTTCTTGGGAAACACTCCA	0.398000														79			29		0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67432757	67432757	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:67432757G>A	uc010vjm.2	-	5	925	c.621C>T	c.(619-621)aaC>aaT	p.N207N		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	207						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GACGCATGGGGTTGACAAAGA	0.592000														24			3		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79414164	79414164	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:79414164C>T	uc002kaf.2	+	9	3080	c.3080C>T	c.(3079-3081)aCc>aTc	p.T1027I	BAHCC1_uc002kae.2_Missense_Mutation_p.T319I	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	1089	Pro-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ATGCAAACCACCGCCCCGGGG	0.677000														39			11		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227580	39227580	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:39227580C>T	uc003cjk.2	-	1	3586	c.3357G>A	c.(3355-3357)aaG>aaA	p.K1119K	XIRP1_uc003cji.3_Splice_Site_p.K1119_splice|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.K1119K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1119							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTACTGACCTTTCTGGGGG	0.602000														96			28		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123097534	123097534	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:123097534C>T	uc003vkn.3	-	11	2671	c.2094G>A	c.(2092-2094)atG>atA	p.M698I	IQUB_uc011kny.2_Missense_Mutation_p.M31I|IQUB_uc003vko.3_Missense_Mutation_p.M698I|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	698										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCCATCTGACCATGACCAGAT	0.483000														141			53		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586111	82586111	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:82586111C>T	uc003uhx.2	-	4	4447	c.4158G>A	c.(4156-4158)aaG>aaA	p.K1386K	PCLO_uc003uhv.2_Silent_p.K1386K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1317					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAGAATATCCTTTTCATCAG	0.428000														44			16		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436215	248436215	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:248436215C>T	uc010pzi.2	-	0	902	c.902G>A	c.(901-903)cGg>cAg	p.R301Q		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCAGCCACCGTTTCAGGGC	0.438000														159			136		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21330956	21330956	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:21330956C>T	uc002kuq.3	+	4	845	c.759C>T	c.(757-759)acC>acT	p.T253T	LAMA3_uc010dlv.2_Silent_p.T253T|LAMA3_uc002kur.3_Silent_p.T253T	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	253	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGAGTTTACCAAGGCAACAA	0.473000														75			27		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072006	17072006	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:17072006C>T	uc002zlp.1	-	0	1695	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	479					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTTCCCACACCCATTAGGAGG	0.507000														136			52		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863664	55863664	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:55863664C>T	uc010spn.2	-	0	259	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ATGGTCTTTTCCCTGGTAACA	0.383000														68			24		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196718247	196718247	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:196718247G>A	uc002utj.4	-	45	8702	c.8601C>T	c.(8599-8601)gaC>gaT	p.D2867D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2867	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCTGCAAAGGTCAACCTCGA	0.383000														22			15		0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34475465	34475465	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:34475465C>T	uc001mvm.3	+	5	792	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	235					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTGCAAATTCCATTATAAGGT	0.443000														52			22		0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95778881	95778881	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:95778881C>T	uc003ygx.2	+	10	1267	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	381						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGCTGAAATTCCTTGAAGTAA	0.303000														29			8		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45419399	45419399	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:45419399G>A	uc002iln.3	+	6	734	c.303_splice	c.e6+1	p.E101_splice	ITGB3_uc010wkr.1_Splice_Site|C17orf57_uc002ilm.3_Splice_Site_p.E101_splice|C17orf57_uc002ill.1_Splice_Site|C17orf57_uc010daz.1_Splice_Site_p.E101_splice	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	101							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AAGAACTGAGGTAAATAAAGA	0.313000														27			15		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878768	5878768	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5878768G>A	uc010qzr.2	-	0	165	c.165C>T	c.(163-165)atC>atT	p.I55I	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAGTCTGGATCACAAACA	0.478000														137			68		0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060330	139060330	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:139060330C>T	uc010jfg.1	+	1	512	c.222C>T	c.(220-222)cgC>cgT	p.R74R	CXXC5_uc003let.2_Silent_p.R74R	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	74					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCCTGCGCCGCTCCCGCC	0.642000														87			31		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871781	13871781	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:13871781G>A	uc003jfd.2	-	22	3532	c.3490C>T	c.(3490-3492)Ccc>Tcc	p.P1164S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1164	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAAGCAAGGGGCTCTGTGTA	0.398000									Kartagener syndrome					45			20		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	132990750	132990750	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:132990750C>T	uc003vrk.3	+	3	626	c.591C>T	c.(589-591)caC>caT	p.H197H	EXOC4_uc011kpo.2_Silent_p.H96H|EXOC4_uc003vri.3_Silent_p.H197H|EXOC4_uc003vrj.3_Silent_p.H197H	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	197					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATGAACTACACCGGCACCTGT	0.488000														55			26		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980841	40980841	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:40980841T>A	uc002xkg.3	-	9	1829	c.1645A>T	c.(1645-1647)Acc>Tcc	p.T549S	PTPRT_uc010ggj.3_Missense_Mutation_p.T549S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	549	Fibronectin type-III 3.				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)				AGGTGGTGGGTTTCATTCCGG	0.572000														70			31		0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1421570	1421570	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:1421570C>T	uc001afv.3	+	9	1145	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	ATAD3B_uc021oeq.1_5'UTR|ATAD3B_uc001afx.3_Silent_p.I302I	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	348							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACAGGCACATCCTGCTGTATG	0.657000														34			32		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179460800	179460800	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:179460800G>A	uc001gmo.3	+	18	2606	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E	AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.G698E|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	740										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CATGATATAGGAGTTGCGCGA	0.423000														115			37		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739209	15739209	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:15739209G>A	uc002nbi.3	+	10	1274	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	CYP4F8_uc010xoj.2_Missense_Mutation_p.D217N	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	405					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.D404D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTGCACCCAGGACGTGGTGCT	0.667000														110			47		0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327225	62327225	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:62327225G>A	uc001ntm.1	-	9	1386	c.1240C>T	c.(1240-1242)Cga>Tga	p.R414*	EEF1G_uc010rlw.1_Nonsense_Mutation_p.R464*	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	414	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGTACTCTCGAACCAGCGTC	0.547000														27			13		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43269007	43269007	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:43269007G>A	uc001zqq.3	-	38	4343	c.4277C>T	c.(4276-4278)cCt>cTt	p.P1426L		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1426					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AACTGAAGAAGGCTGCAGATC	0.413000														41			16		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953743	89953743	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:89953743G>A	uc003kju.3	+	20	4496	c.4400G>A	c.(4399-4401)gGa>gAa	p.G1467E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1467					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGAGAATTGGAGCAGGGATA	0.403000														56			22		0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190027972	190027972	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:190027972G>A	uc003fsh.3	-	2	699	c.459C>T	c.(457-459)acC>acT	p.T153T		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	153					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CATTGACTGGGGTCATAGGGT	0.378000														50			17		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839270	150839270	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:150839270C>G	uc003wjg.1	+	14	1983	c.1980C>G	c.(1978-1980)aaC>aaG	p.N660K	AGAP3_uc003wje.1_Missense_Mutation_p.N329K|AGAP3_uc003wjj.1_Missense_Mutation_p.N159K|AGAP3_uc003wjk.1_Missense_Mutation_p.N78K	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	624	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAACCAGAACGCAGCTCTGG	0.632000														213			62		0	0	1	0	0
PRSS23	11098	broad.mit.edu	37	11	86518920	86518920	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:86518920G>A	uc021qok.1	+	0	235	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Intron|PRSS23_uc001pcb.3_Missense_Mutation_p.E79K	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	79					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCACTTACGAAGAGGCCAA	0.502000														69			29		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113316976	113316976	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:113316976C>T	uc003ynu.3	-	51	8399	c.8240G>A	c.(8239-8241)tGg>tAg	p.W2747*	CSMD3_uc003yns.3_Nonsense_Mutation_p.W1949*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W2707*|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2747	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCATTTCTCCAACTCCAAGT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				57			29		0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41926210	41926210	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:41926210G>A	uc002iem.3	+	1	397	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	CD300LG_uc002iel.2_Missense_Mutation_p.E110K|CD300LG_uc010czk.3_Missense_Mutation_p.E110K|CD300LG_uc010wil.2_Missense_Mutation_p.E110K|CD300LG_uc010czl.3_Missense_Mutation_p.E110K	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	110	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	p.E110K(6)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTGTGGGGTCGAAAAACGGGG	0.592000														85			28		0	0	1	0	0
RHBDD1	84236	broad.mit.edu	37	2	227729501	227729501	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:227729501C>T	uc021vxo.1	+	3	616	c.92C>T	c.(91-93)aCc>aTc	p.T31I	RHBDD1_uc002voi.3_Missense_Mutation_p.T31I|RHBDD1_uc010fxc.3_Missense_Mutation_p.T31I	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	31						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CCACCTGTCACCCTAGCAACT	0.448000														138			49		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927207	111927207	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:111927207G>A	uc003dyu.3	-	15	2026	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.R554C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	602	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGGCATATACGAAAAAAGAAG	0.269000														74			30		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830949	13830949	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:13830949C>T	uc010gcf.3	-	18	1917	c.1835G>A	c.(1834-1836)aGa>aAa	p.R612K	SEL1L2_uc002woq.4_Missense_Mutation_p.R473K|SEL1L2_uc010zrl.2_Missense_Mutation_p.R499K|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	612						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTACAATCTTCTGGCCAAGTG	0.448000														65			22		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731084	23731084	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:23731084G>A	uc003zpu.3	-	2	544	c.269C>T	c.(268-270)cCc>cTc	p.P90L	ELAVL2_uc003zps.3_Missense_Mutation_p.P90L|ELAVL2_uc003zpt.3_Missense_Mutation_p.P90L|ELAVL2_uc003zpv.3_Missense_Mutation_p.P90L|ELAVL2_uc003zpw.3_Missense_Mutation_p.P90L	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	90	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGCATCCTTGGGGTCAATGTA	0.373000														26			14		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489554	65489554	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:65489554G>A	uc002aon.2	-	8	3251	c.3070C>T	c.(3070-3072)Ctg>Ttg	p.L1024L		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	1024					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACCTTCACCAGGGTGCGGTCC	0.592000														84			30		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156880118	156880118	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:156880118G>A	uc001fqj.1	+	13	1887	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	PEAR1_uc001fqk.1_Missense_Mutation_p.E216K	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	591	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGTCTCCCTGAGAATGGCAA	0.642000											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		202			69		0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27778021	27778022	+	Nonsense_Mutation	DNP	TC	AA	AA			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:27778021_27778022TC>AA	uc001zbg.2	+	9	1652_1653	c.1398_1399TC>AA	c.(1396-1401)tatctc>taAAtc	p.466_467YL>*I		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	466					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GATACCTGTATCTCTAAGTGTT	0.495000														29			14		0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	239006844	239006844	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:239006844C>T	uc010fyv.3	+	12	1316	c.1185_splice	c.e12-1	p.Q395_splice	SCLY_uc002vxm.4_Splice_Site_p.Q362_splice|SCLY_uc010znr.2_Splice_Site_p.Q301_splice|SCLY_uc010znq.2_Splice_Site_p.Q189_splice|ESPNL_uc002vxq.4_5'Flank	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	395					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCTCCCCAGGCCGTCCCCAGT	0.697000														17			9		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321627	56321627	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:56321627G>A	uc010ygf.2	-	4	1060	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	NLRP11_uc002qlz.3_Missense_Mutation_p.H18Y|NLRP11_uc002qmb.3_Missense_Mutation_p.H18Y|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	117							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)		AATTTATAATGAAATTTTCCA	0.388000														45			17		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119087271	119087271	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:119087271C>T	uc003ecj.4	+	2	788	c.256C>T	c.(256-258)Cag>Tag	p.Q86*		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	86	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGTGTACCTCCAGGACATCCA	0.502000														71			19		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736843	7736843	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:7736843G>A	uc002giu.1	+	84	13290	c.13276G>A	c.(13276-13278)Gac>Aac	p.D4426N		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4426					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATGAGCCTGGACAGCTGAGA	0.577000														49			15		0	0	1	0	0
LYPD5	284348	broad.mit.edu	37	19	44301849	44301849	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:44301849G>A	uc002oxm.4	-	4	731	c.650C>T	c.(649-651)tCc>tTc	p.S217F	LYPD5_uc002oxn.4_Missense_Mutation_p.S174F	NM_001031749	NP_872379	Q6UWN5	LYPD5_HUMAN	Homo sapiens LY6/PLAUR domain containing 5 (LYPD5), transcript variant A, mRNA.	217						anchored to membrane|plasma membrane				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				CTGGGTCATGGATTTCCTGTT	0.662000														58			22		0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84163956	84163956	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:84163956C>T	uc002fhk.2	-	3	485	c.301G>A	c.(301-303)Gag>Aag	p.E101K	HSDL1_uc010vnv.1_Missense_Mutation_p.E101K	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA.	101						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						AACTTCTCCTCGTTCCGACTA	0.463000														135			53		0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32210981	32210981	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:32210981C>T	uc002wzg.1	+	5	1135	c.598C>T	c.(598-600)Cca>Tca	p.P200S	CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Missense_Mutation_p.P191S|CBFA2T2_uc021wbz.1_Missense_Mutation_p.P171S|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.P171S|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	200	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P200T(2)|p.P191T(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAAGCAGACCCCATCCCAGTA	0.587000														66			27		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673986	113673986	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:113673986G>A	uc001poh.3	-	22	2789	c.2756C>T	c.(2755-2757)tCc>tTc	p.S919F	USP28_uc001pog.3_Missense_Mutation_p.S595F|USP28_uc010rwy.2_Missense_Mutation_p.S762F|USP28_uc001poi.3_Missense_Mutation_p.S242F	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	919					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TACCAGGTAGGAAAGTGCCTC	0.473000														78			21		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671525	84671525	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:84671525G>A	uc003uic.3	-	7	978	c.938C>T	c.(937-939)cCt>cTt	p.P313L	SEMA3D_uc010led.3_Missense_Mutation_p.P313L|SEMA3D_uc003uib.3_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	313	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATCACTTCCAGGAATTGAGCA	0.398000														191			82		0	0	1	0	0
FANCF	2188	broad.mit.edu	37	11	22647386	22647386	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:22647386C>T	uc001mql.1	-	1	1	c.-30_splice	c.e1-1			NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA.						DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CTTCCGCTTTCACCTTGGAGA	0.542000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					26			14		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134091	22134091	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:22134091C>T	uc010tmd.2	+	0	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	265					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)		ACACCAGCTTCTCCATTGACA	0.512000														42			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203743	140203743	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140203743C>T	uc003lhj.1	+	0	2383	c.2383C>T	c.(2383-2385)Ccc>Tcc	p.P795S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron	NM_031501	NP_113689	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 2, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCATCTTTCCCTCCCAATT	0.378000														33			11		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677804	7677804	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:7677804C>T	uc002mgu.4	+	12	2607	c.2506C>T	c.(2506-2508)Cac>Tac	p.H836Y	CAMSAP3_uc002mgv.4_Missense_Mutation_p.H809Y|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	809	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGCCTCCCCCACCTGCGCAA	0.721000														15			9		0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53747712	53747712	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:53747712G>A	uc003pcd.1	+	3	905	c.384G>A	c.(382-384)caG>caA	p.Q128Q		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	128						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGAATTACAGAATTTAACAT	0.323000														37			9		0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132912316	132912316	+	RNA	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:132912316G>A	uc002tti.3	-	3		c.780C>T			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.									p.A178V(2)		endometrium(1)|kidney(3)	4						TTTCCTTATGGCCAGTAAAAG	0.294000														13			5		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476979	20476979	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:20476979G>A	uc010bwe.3	+	3	557	c.318G>A	c.(316-318)ggG>ggA	p.G106G	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.G27G|ACSM2A_uc002dhf.4_Silent_p.G106G|ACSM2A_uc002dhg.4_Silent_p.G106G|ACSM2A_uc010vay.2_Silent_p.G27G	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	106					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R105R(1)|p.R105G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGCAGCGTGGGGATCGTGTGG	0.572000														46			15		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177774	223177774	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:223177774C>T	uc001hnu.2	+	9	3361	c.3035C>T	c.(3034-3036)gCc>gTc	p.A1012V		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1012					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGCCTTTATGCCATCATTTCA	0.488000														135			53		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482258	233482258	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:233482258G>A	uc001hvt.4	+	1	1137	c.876G>A	c.(874-876)ttG>ttA	p.L292L	KIAA1804_uc001hvs.1_Silent_p.L292L	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	292	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				ATTTTGGGTTGGCGAGGGAAT	0.433000														40			17		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9243864	9243864	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:9243864G>A	uc001qvk.1	-	18	2515	c.2402C>T	c.(2401-2403)tCt>tTt	p.S801F	A2M_uc009zgk.1_Missense_Mutation_p.S651F	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	801					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ACGAATCACAGAGTAAGGCAT	0.507000														95			24		0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165802230	165802230	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:165802230G>A	uc002ucw.2	-	2	400	c.69C>T	c.(67-69)tcC>tcT	p.S23S	SLC38A11_uc002ucu.2_Silent_p.S23S|SLC38A11_uc002ucv.2_Silent_p.S23S	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.	23					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ATAAAACAAGGGAAAAGTCTG	0.368000														81			17		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57867741	57867741	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:57867741G>A	uc010etw.3	+	3	1033	c.645G>A	c.(643-645)acG>acA	p.T215T	ZNF304_uc010ygw.2_Silent_p.T168T|ZNF304_uc010etx.3_Silent_p.T126T	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GATCCTTTACGTGCAGGGAGG	0.498000														62			20		0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038760	139038760	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:139038760C>T	uc004fbb.3	-	2	403	c.381G>A	c.(379-381)agG>agA	p.R127R		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	127	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GTGCGGATGCCCTTTCTGGAC	0.448000														110			81		0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226050212	226050212	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:226050212G>A	uc001hpm.2	-	11	1516	c.894C>T	c.(892-894)ctC>ctT	p.L298L		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	298						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGGGGTTGATGAGGGTCCGCT	0.592000														88			30		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129162698	129162698	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:129162698C>T	uc022cdu.1	+	6	4211	c.4167C>T	c.(4165-4167)gtC>gtT	p.V1389V	BCORL1_uc010nrd.1_Silent_p.V1161V|BCORL1_uc004evc.2_Silent_p.V151V	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1389					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCAACAAAGTCCAGGGGATCT	0.493000											OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		96			70		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55591294	55591294	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:55591294C>T	uc010qhy.1	-	31	4394	c.3999_splice	c.e31-1	p.K1333_splice	PCDH15_uc010qhq.2_Splice_Site_p.K1333_splice|PCDH15_uc010qhr.2_Splice_Site_p.K1328_splice|PCDH15_uc021pqv.1_Splice_Site_p.K1328_splice|PCDH15_uc021pqw.1_Splice_Site_p.K1340_splice|PCDH15_uc010qht.2_Splice_Site_p.K1335_splice|PCDH15_uc021pqx.1_Splice_Site_p.K1328_splice|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Splice_Site_p.K1328_splice|PCDH15_uc021pqz.1_Splice_Site_p.K1306_splice|PCDH15_uc010qhv.1_Splice_Site_p.K1328_splice|PCDH15_uc010qhw.1_Splice_Site_p.K1291_splice|PCDH15_uc010qhx.1_Splice_Site_p.K1257_splice|PCDH15_uc010qhz.1_Splice_Site_p.K1328_splice|PCDH15_uc010qia.1_Splice_Site_p.K1306_splice|PCDH15_uc001jju.1_Splice_Site_p.K1328_splice|PCDH15_uc010qib.1_Splice_Site_p.K1306_splice	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1328					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCCAAAAATCTTTATTGTTA	0.338000										HNSCC(58;0.16)				35			11		0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773948	58773948	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:58773948C>T	uc010euo.3	+	6	2450	c.1976C>T	c.(1975-1977)cCt>cTt	p.P659L	ZNF544_uc010yhw.1_Non-coding_Transcript|ZNF544_uc010yhx.2_Missense_Mutation_p.P631L|ZNF544_uc010yhy.2_Missense_Mutation_p.P631L|ZNF544_uc002qrt.4_Missense_Mutation_p.P517L|ZNF544_uc002qru.4_Missense_Mutation_p.P517L|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GGTGAGAAACCTTTTGAGTGT	0.458000														111			40		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67148008	67148008	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:67148008C>T	uc001dcr.3	+	14	1488	c.1271C>T	c.(1270-1272)tCg>tTg	p.S424L	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.S191L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	424	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACTGTGGTTTCGTCCCCCGGA	0.552000														256			74		0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489198	124489198	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:124489198G>A	uc001qah.3	+	3	546	c.546G>A	c.(544-546)cgG>cgA	p.R182R		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	182					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.R182Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCAGGGCTCGGAAAGAACGAT	0.478000														63			20		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344629	56344629	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56344629G>A	uc001niz.1	-	0	569	c.569C>T	c.(568-570)tCt>tTt	p.S190F	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C189F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACGGGTGTCAGAGCAGGCCAG	0.443000														65			24		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680961	106680961	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:106680961C>T	uc009yxn.1	-	4	1840	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	GUCY1A2_uc001pjg.1_Missense_Mutation_p.E484K|GUCY1A2_uc010rvo.1_Missense_Mutation_p.E505K	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	484					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCTCTTCTTCCAGGGCCTGG	0.433000														72			21		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905602	15905602	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:15905602G>A	uc010xos.2	+	0	744	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ACCTCACTGTGGTGGTCGTGC	0.567000														78			30		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962223	34962223	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:34962223G>A	uc004ddi.2	+	0	1311	c.1275G>A	c.(1273-1275)ccG>ccA	p.P425P		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	425								p.P425P(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCTCTGCCCGGAGCCTACCA	0.547000														54			38		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347291	71347291	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:71347291C>T	uc011cat.2	+	3	1118	c.830C>T	c.(829-831)cCa>cTa	p.P277L	MUC7_uc011cau.2_Missense_Mutation_p.P277L|MUC7_uc003hfj.3_Missense_Mutation_p.P277L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	277	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GCCTCAGCTCCACCAGAGACC	0.582000														220			65		0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145914535	145914535	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:145914535C>T	uc010huy.3	-	6	999	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	PLSCR4_uc010huz.3_Missense_Mutation_p.E224K|PLSCR4_uc003evt.4_Missense_Mutation_p.E224K|PLSCR4_uc010hva.3_Missense_Mutation_p.E134K|PLSCR4_uc003evu.4_Missense_Mutation_p.E119K	NM_020353	NP_065086	Q9NRQ2	PLS4_HUMAN	Homo sapiens phospholipid scramblase 4 (PLSCR4), transcript variant 2, mRNA.	224					blood coagulation|phospholipid scrambling	integral to membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TTCCAATGTTCCGCAACAAAG	0.478000														43			25		0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172195898	172195898	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:172195898G>A	uc003mbv.2	-	3	1219	c.971C>T	c.(970-972)cCc>cTc	p.P324L	DUSP1_uc003mbu.2_Missense_Mutation_p.P212L	NM_004417	NP_004408	P28562	DUS1_HUMAN	Homo sapiens dual specificity phosphatase 1 (DUSP1), mRNA.	324	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		AGCCATGGCGGGGCTCCCAGC	0.617000														56			26		0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105816884	105816884	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:105816884G>A	uc003prc.3	-	5	844	c.611C>T	c.(610-612)aCc>aTc	p.T204I		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	204					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GTGGAGATTGGTAGATGTCTC	0.393000														75			36		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319236	123319236	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:123319236C>T	uc003pzi.1	+	1	1183	c.314C>T	c.(313-315)cCt>cTt	p.P105L		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	105	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GATGGCTTCCCTGGGGGCCTG	0.512000														93			28		0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159154116	159154116	+	Silent	SNP	T	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:159154116T>C	uc003ipx.3	+	6	997	c.477T>C	c.(475-477)acT>acC	p.T159T	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	159						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TGGATACCACTCCATTAATAA	0.269000														28			13		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38591838	38591838	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:38591838C>T	uc021wvo.1	-	26	6077	c.6025G>A	c.(6025-6027)Gac>Aac	p.D2009N	SCN5A_uc021wvk.1_Missense_Mutation_p.D1976N|SCN5A_uc021wvl.1_Missense_Mutation_p.D1955N|SCN5A_uc021wvm.1_Missense_Mutation_p.D1991N|SCN5A_uc021wvn.1_Missense_Mutation_p.D2008N|SCN5A_uc021wvp.1_Missense_Mutation_p.D2009N|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1821N|SCN5A_uc021wvi.1_Missense_Mutation_p.D1875N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	2009					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGTCCCTGTCCGGAGAAGGG	0.572000														110			35		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46828842	46828842	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:46828842C>T	uc002peh.3	+	10	1417	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	HIF3A_uc002peg.4_Silent_p.L462L|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.L406L|HIF3A_uc002pej.2_Silent_p.L393L|HIF3A_uc010xxy.2_Silent_p.L393L|HIF3A_uc002pel.3_Silent_p.L460L|HIF3A_uc010xxz.2_Silent_p.L411L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	462	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGCACAGACTCTTCACCTCCG	0.517000														139			33		0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201872	71201872	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:71201872G>A	uc003hff.3	+	0	1202	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K	CABS1_uc021xoz.1_Silent_p.K372K	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	372						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGACTATAAGGAAGACACCT	0.383000														70			31		0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145500038	145500038	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:145500038G>A	uc003lnx.1	-	30	3459	c.3221C>T	c.(3220-3222)cCc>cTc	p.P1074L	LARS_uc003lnw.1_Missense_Mutation_p.P232L|LARS_uc011dbq.1_Missense_Mutation_p.P1028L|LARS_uc011dbr.1_Missense_Mutation_p.P1020L|LARS_uc011dbs.1_Missense_Mutation_p.P1047L	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	1074					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GGATGGCTGGGGATTCACCAG	0.413000														88			38		0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31552616	31552617	+	Silent	DNP	TG	GA	GA			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:31552616_31552617TG>GA	uc001rkh.1	-	17	3295_3296	c.3144_3145CA>TC	c.(3142-3147)gtcaga>gtTCga	p.1048_1049VR>VR	DENND5B_uc001rki.1_Silent_p.1013_1014VR>VR	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	1013						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATTTCATTTCTGACCATGACAC	0.416000														31			7		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98348912	98348912	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:98348912G>A	uc001drv.3	-	1	195	c.58C>T	c.(58-60)Cct>Tct	p.P20S	DPYD_uc010oub.1_Intron|DPYD_uc001drw.3_Missense_Mutation_p.P20S	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	20					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGTGTTCGAGGATTTAAAGCC	0.313000														52			13		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9021761	9021761	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:9021761G>A	uc001quz.4	+	32	4281	c.4183G>A	c.(4183-4185)Gaa>Aaa	p.E1395K	A2ML1_uc001qva.1_Missense_Mutation_p.E975K|A2ML1_uc010sgm.2_Missense_Mutation_p.E895K|A2ML1_uc001qvb.1_Non-coding_Transcript	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	1239						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAAGAAGGTTGAATTTGGAAC	0.448000														136			51		0	0	1	0	0
C8orf31	286122	broad.mit.edu	37	8	144124457	144124457	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:144124457G>A	uc003yxp.1	+	1	391	c.39G>A	c.(37-39)gtG>gtA	p.V13V	C8orf31_uc003yxq.1_Non-coding_Transcript|C8orf31_uc003yxr.1_Intron	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	Homo sapiens chromosome 8 open reading frame 31 (C8orf31), mRNA.	13								p.S12*(2)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCAATTCAGTGAGGCAGCTCT	0.602000														76			26		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19426084	19426084	+	RNA	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:19426084G>A	uc010tcj.1	-	0		c.20026C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TACCTTCAAGGAAGGATGTTT	0.328000														72			21		0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569976	241569976	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:241569976C>T	uc010fzi.2	+	5	1572	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	GPR35_uc010fzh.2_Missense_Mutation_p.P234S|GPR35_uc021vze.1_Missense_Mutation_p.P203S|GPR35_uc002vzs.2_Missense_Mutation_p.P203S	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	203						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCAGAGGCCACCCACCGACGT	0.667000														47			23		0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39081698	39081698	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:39081698C>T	uc002hvm.1	-	6	1639	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	KRT23_uc010wfl.1_Silent_p.Q213Q|KRT23_uc010cxf.1_Silent_p.Q137Q|KRT23_uc010cxg.3_Silent_p.Q350Q	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	350	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ATTCATTGTTCTGCCGCTCCA	0.547000														66			32		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5041932	5041932	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:5041932G>A	uc002cye.2	+	5	748	c.568G>A	c.(568-570)Gat>Aat	p.D190N		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	190						integral to membrane|intracellular	transporter activity	p.D190D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCGTGAGGAGGATGCCCGCAA	0.667000														15			5		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57330038	57330038	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:57330038G>A	uc002qnu.2	-	4	1053	c.702C>T	c.(700-702)ctC>ctT	p.L234L	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Silent_p.L109L|PEG3_uc010etp.2_Silent_p.L109L|PEG3_uc010ygs.1_Silent_p.L109L|PEG3_uc002qnq.2_Silent_p.L109L|PEG3_uc002qnt.2_Silent_p.L235L|PEG3_uc002qnv.2_Silent_p.L234L|PEG3_uc002qnw.2_Silent_p.L109L|PEG3_uc002qnx.2_Silent_p.L108L|PEG3_uc010etr.2_Silent_p.L234L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	234					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L234F(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGTCCTCAGCGAGGTCCACCA	0.478000														86			29		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65713198	65713198	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:65713198C>T	uc001ogk.1	+	0	84	c.52C>T	c.(52-54)Ccg>Tcg	p.P18S	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Non-coding_Transcript	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	18										endometrium(2)|kidney(3)|lung(9)	14						GGTTAGGACCCCGTCGGTGTG	0.607000														46			14		0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3823908	3823908	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:3823908G>A	uc001iha.3	-	1	868	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	KLF6_uc010qaj.2_Missense_Mutation_p.R201W|KLF6_uc010qak.2_Intron|KLF6_uc010qal.2_Intron|KLF6_uc001ihb.2_Missense_Mutation_p.R201W	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	201					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AAGTGGCACCGGTGCACCCTC	0.647000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			21		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119729076	119729076	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:119729076G>A	uc002tln.1	+	4	557	c.425_splice	c.e4-1	p.G142_splice	MARCO_uc010yyf.1_Splice_Site_p.G64_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	142					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCTTGCAGGGATGTTCAGAA	0.587000														72			35		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93118658	93118658	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:93118658G>A	uc001pdq.3	+	7	984	c.884G>A	c.(883-885)aGa>aAa	p.R295K	CCDC67_uc001pdo.1_Missense_Mutation_p.R295K|CCDC67_uc001pdp.3_Missense_Mutation_p.R295K	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	295								p.C295*(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CAATTACACAGAGAATTATTA	0.348000														33			9		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769800	247769800	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:247769800C>T	uc010pyz.2	+	0	913	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAGGAAACTTCTCTCGGGAAA	0.383000														87			24		0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635309	34635309	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:34635309C>T	uc002yrd.3	+	8	1380	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	IFNAR2_uc002yre.3_Missense_Mutation_p.S351F|IFNAR2_uc002yrf.3_3'UTR|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	351					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGTCAGGCCTCTGCCACCTCT	0.572000														65			40		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678655	3678655	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:3678655G>A	uc002wja.3	-	7	1912	c.1912C>T	c.(1912-1914)Cac>Tac	p.H638Y	SIGLEC1_uc002wiz.4_Missense_Mutation_p.H638Y	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	638	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGTCCTTGTGGAGCAGCTGC	0.672000														47			23		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48530055	48530055	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:48530055G>A	uc003gyh.1	-	51	7678	c.7073C>T	c.(7072-7074)aCa>aTa	p.T2358I	FRYL_uc003gyg.1_Missense_Mutation_p.T1054I|FRYL_uc003gyi.1_Missense_Mutation_p.T1246I|FRYL_uc003gyj.1_Missense_Mutation_p.T653I	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2358					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTTTCTCTTGTTCTTCGCTA	0.358000														37			21		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798482	160798482	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:160798482G>A	uc002ube.2	-	29	4411	c.4199C>T	c.(4198-4200)cCt>cTt	p.P1400L	PLA2R1_uc010zcp.2_Missense_Mutation_p.P1398L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1400					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AACCGCAAGAGGAATGATGCT	0.408000														43			31		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193042716	193042716	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:193042716G>A	uc011bsq.2	-	13	1611	c.1611C>T	c.(1609-1611)atC>atT	p.I537I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	537					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.I537V(1)|p.L536L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CATTGAGAAGGATCAGAGAGT	0.552000														156			60		0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31974158	31974158	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:31974158A>G	uc021yve.1	+	0	800	c.238A>G	c.(238-240)Aga>Gga	p.R80G	CYP21A2_uc021yvd.1_Missense_Mutation_p.K103R			Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	0							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGTGTCTAAGAACTACCCG	0.607000														14			3		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672781	141672781	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:141672781G>A	uc003vwx.1	-	0	793	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	237					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCCAGGCTGGGGTCACGAGAG	0.498000														58			20		0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48641066	48641066	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:48641066G>A	uc003cub.1	-	5	682	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	213					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	AAGTCTGCACGAGACAGCTTC	0.527000														28			13		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356147	10356147	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:10356147C>T	uc002gmn.3	-	24	3325	c.3214G>A	c.(3214-3216)Gat>Aat	p.D1072N	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1072					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTTCTGTATCCATTGTGGAT	0.368000														114			49		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712259	140712259	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140712259G>A	uc003lji.2	+	0	2008	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D670N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	672	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGATCTCCGACATCCTGGC	0.697000														96			32		0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324774	3324774	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:3324774G>A	uc010vrd.2	+	0	913	c.913G>A	c.(913-915)Gat>Aat	p.D305N		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CAGAAATACTGATGTTCAGGG	0.502000														89			27		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52206085	52206085	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:52206085G>A	uc003jou.3	+	13	2107	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.E96K	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	565					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAACAAAAATGAGCCATGCGG	0.443000														62			30		0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56125297	56125297	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:56125297C>T	uc001xcb.3	+	30	3228	c.2926C>T	c.(2926-2928)Caa>Taa	p.Q976*	KTN1_uc001xcc.3_Nonsense_Mutation_p.Q976*|KTN1_uc001xcd.3_Nonsense_Mutation_p.Q953*|KTN1_uc001xce.3_Nonsense_Mutation_p.Q976*|KTN1_uc010trb.2_Nonsense_Mutation_p.Q976*|KTN1_uc001xcf.1_Nonsense_Mutation_p.Q953*|KTN1_uc010aoq.3_Nonsense_Mutation_p.Q271*|KTN1_uc010trc.2_5'Flank	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	976					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTTTAAGTCCCAAATTGAGCA	0.289000			T	RET	papillary thryoid									69			24		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7845453	7845453	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:7845453G>A	uc003mxu.4	+	1	923	c.745G>A	c.(745-747)Gag>Aag	p.E249K		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	249					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TCCTGAGGGTGAGGTGGTGAC	0.433000														91			42		0	0	1	0	0
ETFB	2109	broad.mit.edu	37	19	51869540	51869540	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:51869540A>G	uc002pwh.3	-	0	133	c.41T>C	c.(40-42)aTc>aCc	p.I14T		NM_001985	NP_001976	P38117	ETFB_HUMAN	Homo sapiens electron-transfer-flavoprotein, beta polypeptide (ETFB), transcript variant 1, mRNA.	14					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GGCGTAGTCGATGACCCTCTT	0.672000														24			5		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2315774	2315774	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:2315774C>T	uc002wfx.4	+	10	1752	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	552					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCAGAACATCCCATAAAGATC	0.547000														70			25		0	0	1	0	0
ORAOV1	220064	broad.mit.edu	37	11	69482731	69482731	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:69482731G>A	uc001opc.3	-	3	435	c.277C>T	c.(277-279)Cct>Tct	p.P93S	ORAOV1_uc010rqi.1_Missense_Mutation_p.P93S|ORAOV1_uc009ysm.3_Non-coding_Transcript|ORAOV1_uc001opd.3_Missense_Mutation_p.P34S	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	Homo sapiens oral cancer overexpressed 1 (ORAOV1), mRNA.	93										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TCATCATAAGGGAATTTCTGG	0.413000														51			24		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537739	90537739	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:90537739C>T	uc010mqi.3	+	3	2946	c.2917C>T	c.(2917-2919)Cat>Tat	p.H973Y	FAM75C1_uc004apq.4_Missense_Mutation_p.H956Y|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CTTAGAAAAACATGAAGAAAT	0.483000														84			4		0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435408	56435408	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:56435408G>A	uc002iwf.3	-	7	3685	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	RNF43_uc010wnv.2_Nonsense_Mutation_p.Q536*|RNF43_uc002iwh.4_Nonsense_Mutation_p.Q577*|RNF43_uc002iwg.4_Nonsense_Mutation_p.Q577*|RNF43_uc010dcw.3_Nonsense_Mutation_p.Q450*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	577	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCTGGACTGGGGGACTCCG	0.622000														105			31		0	0	1	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010915	62010915	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:62010915C>T	uc001ntb.3	+	1	266	c.210C>T	c.(208-210)tcC>tcT	p.S70S		NM_006551	NP_006542	O95969	SG1D2_HUMAN	Homo sapiens secretoglobin, family 1D, member 2 (SCGB1D2), mRNA.	70						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						ATCAGATGTCCCTTCAGAAAC	0.463000														92			38		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872551	36872551	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:36872551G>A	uc003cgj.3	-	20	8639	c.8391C>T	c.(8389-8391)ttC>ttT	p.F2797F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2797					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTTCTCGTGGAAAAATTCTG	0.527000														151			41		0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49017013	49017013	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:49017013C>T	uc003cvb.3	+	11	1372	c.1060C>T	c.(1060-1062)Caa>Taa	p.Q354*	ARIH2_uc003cvc.3_Nonsense_Mutation_p.Q354*|ARIH2_uc003cvf.3_Nonsense_Mutation_p.Q272*|ARIH2_uc010hkl.3_Nonsense_Mutation_p.Q354*	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	354					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GAACCAGAGCCAACAAGCCCA	0.498000														69			21		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56342326	56342326	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:56342326G>A	uc002ivt.3	+	9	1826	c.1510G>A	c.(1510-1512)Gtc>Atc	p.V504I	LPO_uc010wns.2_Missense_Mutation_p.V445I|LPO_uc010dcp.3_Missense_Mutation_p.V421I|LPO_uc010dcq.3_Missense_Mutation_p.V175I|LPO_uc010dcr.3_Missense_Mutation_p.V67I	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	504					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TTGGAGGATGGTCAAAGATGG	0.537000														60			16		0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6638550	6638550	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:6638550C>G	uc001mel.1	-	4	551	c.490G>C	c.(490-492)Gcc>Ccc	p.A164P	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Missense_Mutation_p.A164P	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	164					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)		ACATGGGGGGCCAAGGCCTGT	0.577000														72			25		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926430	1926430	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:1926430T>C	uc002qxe.3	-	9	1938	c.1111A>G	c.(1111-1113)Acg>Gcg	p.T371A	MYT1L_uc002qxd.3_Missense_Mutation_p.T371A|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	371					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGTCCGGCGTCCTTCCGGGG	0.602000														31			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594512	179594512	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:179594512G>A	uc021vsy.1	-	59	14961	c.14736C>T	c.(14734-14736)ttC>ttT	p.F4912F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F1573F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5839	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCATCAATGAAGGAAATGC	0.448000														81			32		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188245470	188245470	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:188245470C>T	uc010frt.3	-	4	612	c.229G>A	c.(229-231)Gat>Aat	p.D77N	CALCRL_uc002upv.4_Missense_Mutation_p.D77N	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	77						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCTGCAACATCGTTCCAGCAG	0.413000														31			10		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1262911	1262911	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:1262911G>A	uc009xhq.3	-	6	1988	c.1662C>T	c.(1660-1662)tcC>tcT	p.S554S		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	554	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGTCCGTGCAGGACATGGTGA	0.682000														18			6		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057629	152057629	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:152057629G>A	uc001ezo.1	-	2	2594	c.2529C>T	c.(2527-2529)atC>atT	p.I843I		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	843							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AACAATCTGAGATCTCACTGG	0.483000														112			42		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193158409	193158409	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:193158409G>A	uc003ftd.3	-	20	2565	c.2457C>T	c.(2455-2457)acC>acT	p.T819T	ATP13A4_uc003fte.1_Silent_p.T819T|ATP13A4_uc011bsr.1_Silent_p.T290T|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	819					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTGCAAAGATGGTCCCATTGA	0.408000														35			19		0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130941631	130941631	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:130941631G>A	uc011mas.2	-	7	1110	c.945C>T	c.(943-945)gcC>gcT	p.A315A	CIZ1_uc004btr.3_Silent_p.A285A|CIZ1_uc004bts.3_Silent_p.A256A|CIZ1_uc011maq.2_Silent_p.A280A|CIZ1_uc004btu.3_Silent_p.A261A|CIZ1_uc004btt.3_Silent_p.A285A|CIZ1_uc011mar.2_Silent_p.A184A|CIZ1_uc004btw.3_Silent_p.A285A|CIZ1_uc004btv.3_Silent_p.A285A|CIZ1_uc004btx.2_Silent_p.A261A	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	285	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding	p.R314P(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGTCATCCGGGCCTGCGGCT	0.577000														50			30		0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87960436	87960436	+	Silent	SNP	G	A	A	rs145171357	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:87960436G>A	uc002fkn.1	-	1	314	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_001739	NP_001730	P35218	CAH5A_HUMAN	Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA.	86					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CCGCTTCATAGGAGACCCTGA	0.607000														45			19		0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128696421	128696421	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:128696421C>T	uc004euq.3	+	10	1165	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	OCRL_uc004eur.3_Nonsense_Mutation_p.R334*	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	334					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.R334*(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGATCAGTGTCGATACATTCG	0.393000														79			51		0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010865	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:59010864_59010865GG>AA	uc002qtc.2	-	6	1771_1772	c.1661_1662CC>TT	c.(1660-1662)acc>aTT	p.T554I	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGAG	0.658000														40			12		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052324	44052324	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:44052324G>A	uc001jaw.4	-	1	1857	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	ZNF239_uc001jax.4_Missense_Mutation_p.P402S|ZNF239_uc009xmj.3_Missense_Mutation_p.P402S|ZNF239_uc009xmk.3_Missense_Mutation_p.P402S|ZNF239_uc021pph.1_Missense_Mutation_p.P402S	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAGTGATAGGGCTTCTCTCCA	0.517000														56			23		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415685	86415685	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:86415685C>T	uc003uid.3	+	2	1676	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	GRM3_uc010lef.3_Missense_Mutation_p.P191S|GRM3_uc010leg.3_Missense_Mutation_p.P65S|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	193					synaptic transmission	integral to plasma membrane		p.P192L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACCGTGCCCCCCGACTTCTA	0.572000														112			34		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60926762	60926762	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:60926762G>A	uc002ycq.3	-	5	1021	c.954C>T	c.(952-954)ttC>ttT	p.F318F	LAMA5_uc021wfw.1_Silent_p.F318F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	318	Laminin EGF-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCTCACCTGAACGGGTCCG	0.627000														19			5		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46965029	46965029	+	Missense_Mutation	SNP	G	A	A	rs146472908	by1000genomes	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:46965029G>A	uc001jea.3	-	5	1069	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	SYT15_uc001jdz.2_Missense_Mutation_p.R306W|SYT15_uc001jeb.3_Missense_Mutation_p.R184W|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	306	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCCTGGAGCCGGAGGCCCTTG	0.632000														49			10		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133899	31133899	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:31133899G>A	uc002rns.3	-	15	2182	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	GALNT14_uc002rnq.3_Silent_p.I489I|GALNT14_uc010ymr.2_Silent_p.I474I|GALNT14_uc002rnr.3_Silent_p.I509I	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	509	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTATGTGCTCGATGTGGGAAC	0.488000														74			40		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995047	140995047	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:140995047G>A	uc004fbt.3	+	3	2181	c.1857G>A	c.(1855-1857)gaG>gaA	p.E619E	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.E278E	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	619							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGGGGGAGGAATTCCAGT	0.567000										HNSCC(15;0.026)				202			129		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45367134	45367134	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:45367134C>T	uc002ilj.3	+	6	1047	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	ITGB3_uc002ili.1_Missense_Mutation_p.L343F|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	343	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.L343I(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TGTAGTCAATCTCTATCAGGT	0.488000														63			22		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811480	156811480	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:156811480G>A	uc010pht.2	-	19	3803	c.3504C>T	c.(3502-3504)atC>atT	p.I1168I	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1168	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGTGGTGAAGATCCCATCTT	0.647000														66			33		0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100177399	100177399	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:100177399G>A	uc021pwv.1	-	19	2271	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	PYROXD2_uc001kpc.3_5'Flank|PYROXD2_uc010qpe.2_5'Flank	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	675					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGTCAGTGGGGATGACAGACA	0.677000									Hermansky-Pudlak syndrome					35			7		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762771	24762771	+	Silent	SNP	C	T	T	rs143282203	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:24762771C>T	uc001iru.4	+	5	1864	c.1461C>T	c.(1459-1461)caC>caT	p.H487H	KIAA1217_uc001irs.3_Silent_p.H407H|KIAA1217_uc001irt.4_Silent_p.H487H|KIAA1217_uc010qcy.2_Silent_p.H487H|KIAA1217_uc010qcz.2_Silent_p.H487H|KIAA1217_uc001irv.1_Silent_p.H337H|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.H205H|KIAA1217_uc001irz.3_Silent_p.H205H|KIAA1217_uc001irx.3_Silent_p.H205H|KIAA1217_uc001iry.3_Silent_p.H205H	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	487					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAGACATGCACGCTCACTATA	0.557000														117			5		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507796	1507796	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:1507796C>T	uc002qwr.3	+	13	2549	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.F821F|TPO_uc002qwx.3_Silent_p.F764F|TPO_uc002qwu.3_Silent_p.F764F|TPO_uc010yio.2_Silent_p.F648F|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	821	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGGCGGCTTCCAGTGTCTCT	0.597000														51			19		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89981753	89981753	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:89981753G>A	uc003kju.3	+	28	6527	c.6431G>A	c.(6430-6432)gGa>gAa	p.G2144E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2144					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTAGAACAGGAGGAGCATTT	0.418000														17			8		0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63520681	63520681	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:63520681G>A	uc010qik.2	+	5	777	c.472G>A	c.(472-474)Gat>Aat	p.D158N		NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN	Homo sapiens chromosome 10 open reading frame 107 (C10orf107), mRNA.	158										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CTCAGACATGGATCCTTTAGT	0.403000														55			27		0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984870	41984870	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:41984870C>T	uc003gwk.2	+	0	1158	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	354								p.S354S(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ACCATCCCTTCCCCGTACTCT	0.637000														62			19		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704158	56704158	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:56704158C>T	uc010ygh.2	-	0	264	c.264G>A	c.(262-264)gtG>gtA	p.V88V		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	88	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTGCTCCATCACCAGCATGT	0.562000														44			7		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31367975	31367975	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:31367975C>A	uc002ebt.3	+	2	240	c.173C>A	c.(172-174)aCa>aAa	p.T58K	ITGAX_uc010cao.1_Missense_Mutation_p.T58K|ITGAX_uc002ebu.1_Missense_Mutation_p.T58K	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	58					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAAAAGATAACAGCTGCCAAC	0.607000														6			3		1	1	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111138100	111138100	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:111138100C>T	uc001vqx.3	+	33	3413	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1042	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CATCGGAGTCCCCGGCATCCC	0.617000														52			28		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366692	248366692	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:248366692T>C	uc010pzg.2	+	0	323	c.323T>C	c.(322-324)cTt>cCt	p.L108P		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCACTGCTTGGCTCTGAG	0.463000														451			110		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	617491	617491	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:617491C>T	uc001lql.3	-	14	2665	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.E800K|CDHR5_uc009ycd.3_Missense_Mutation_p.E794K|CDHR5_uc001lqk.3_Missense_Mutation_p.E606K|CDHR5_uc009ycc.3_Missense_Mutation_p.E634K	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	800					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACGTCTGCCTCCGTCCCGATG	0.711000														41			15		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	720202	720202	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:720202G>A	uc003siu.2	-	2	472	c.339C>T	c.(337-339)taC>taT	p.Y113Y	PRKAR1B_uc021zyi.1_Silent_p.Y113Y|PRKAR1B_uc003siv.3_Silent_p.Y113Y|PRKAR1B_uc021zyj.1_Silent_p.Y113Y|PRKAR1B_uc021zyk.1_Silent_p.Y113Y|PRKAR1B_uc003siw.2_Silent_p.Y113Y	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	113	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.Y113H(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCTTCCTGACGTAGGACACGG	0.697000														22			17		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162508677	162508677	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:162508677G>A	uc003iqh.3	-	7	1381	c.945C>T	c.(943-945)caC>caT	p.H315H	FSTL5_uc003iqi.3_Silent_p.H314H|FSTL5_uc010iqv.3_Silent_p.H314H	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	315	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATTGCCAACGTGAGTTGTGG	0.343000														74			25		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904063	60904063	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:60904063G>A	uc002ycq.3	-	33	4351	c.4284C>T	c.(4282-4284)tcC>tcT	p.S1428S	LAMA5_uc021wfw.1_Silent_p.S1428S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1428	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.L1427L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATAGAAGAGGGAGAGGGAAG	0.657000														79			23		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046507	17046507	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:17046507G>A	uc001azn.1	-	0	146	c.32C>T	c.(31-33)gCc>gTc	p.A11V						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GTCTCCTTTGGCTGCAGCGTA	0.622000														59			26		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158534506	158534506	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:158534506G>A	uc003qrc.2	-	15	1945	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	SERAC1_uc003qrb.2_Silent_p.L329L	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	601					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTACCACATGGAGCTTAATCA	0.383000														58			20		0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1137706	1137706	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:1137706G>A	uc001qjb.2	+	1	878	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.E213K|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.E213K	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	213					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CATTTGGAAGGAACAGTACAG	0.403000														42			14		0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49309166	49309166	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:49309166G>A	uc001zxe.2	-	9	1562	c.1298C>T	c.(1297-1299)cCa>cTa	p.P433L	SECISBP2L_uc001zxd.2_Missense_Mutation_p.P388L|SECISBP2L_uc010bep.2_Missense_Mutation_p.P195L|SECISBP2L_uc010beq.2_Missense_Mutation_p.P305L	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	433										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AATAGGAATTGGAGTCTGAAC	0.373000														59			20		0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109309580	109309580	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:109309580G>A	uc010sxh.1	-	14	1429	c.1257C>T	c.(1255-1257)ctC>ctT	p.L419L		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	473						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						ACGGAGTGATGAGAGCACCCA	0.612000														13			3		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450470	158450470	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:158450470T>G	uc010pik.2	+	0	803	c.803T>G	c.(802-804)gTt>gGt	p.V268G	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTCAGTGTTGTTATTGTTCAT	0.483000														71			21		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698400	169698400	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:169698400G>A	uc001ggm.4	-	6	1174	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	339	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCTGCAACATGAAGCCTTCCT	0.527000														37			13		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817731	7817731	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:7817731G>A	uc001mfp.1	-	0	759	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCACATAAATGAAGGTAATGG	0.502000														91			46		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179361	55179361	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:55179361C>T	uc002qgp.3	+	11	1600	c.1238C>T	c.(1237-1239)gCc>gTc	p.A413V	LILRB4_uc002qgq.3_Missense_Mutation_p.A412V|LILRB4_uc010ert.3_Missense_Mutation_p.A454V|LILRB4_uc010eru.3_Missense_Mutation_p.A443V	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	413						integral to membrane|plasma membrane	antigen binding|receptor activity	p.Y412Y(2)|p.A413T(1)|p.Y412C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTGACCTACGCCCAGCTGCAC	0.652000														80			33		0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	615050	615050	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:615050C>A	uc002chk.3	+	2	1738	c.1459C>A	c.(1459-1461)Ccc>Acc	p.P487T	NHLRC4_uc002chl.3_5'Flank|PIGQ_uc010bqw.3_5'Flank|NHLRC4_uc021szs.1_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	487										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GTGGGGGCGGCCCGAGCTGGG	0.721000														17			7		1.06961e-07	1.07899e-07	1	1	0
ADAD1	132612	broad.mit.edu	37	4	123336636	123336636	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:123336636G>A	uc003ieo.3	+	10	1584	c.1352G>A	c.(1351-1353)aGa>aAa	p.R451K	ADAD1_uc003iep.3_Missense_Mutation_p.R440K|ADAD1_uc003ieq.3_Missense_Mutation_p.R433K	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	451	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTAGTCAACAGACCTCATATT	0.388000														151			49		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103124013	103124013	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:103124013G>A	uc001phn.1	+	67	10208	c.10064_splice	c.e67-1	p.G3355_splice	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Splice_Site_p.G3348_splice	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3348	AAA 5 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTTTAAATAGGACCACGTTA	0.299000														39			15		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142119937	142119937	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:142119937G>A	uc022anf.1	-	1	274	c.245C>T	c.(244-246)tCa>tTa	p.S82L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGCAGCCCTGATTTGTCTGG	0.532000														63			20		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117984	37117984	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:37117984C>T	uc002oek.3	+	4	1298	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	ZNF382_uc010efa.3_Silent_p.L346L|ZNF382_uc010efb.3_Silent_p.L394L|ZNF382_uc002oel.3_Silent_p.L394L	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	395	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTCATACCTCATTGATCACC	0.468000														79			33		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538936	55538936	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:55538936G>A	uc003xsd.1	+	3	2642	c.2494G>A	c.(2494-2496)Gat>Aat	p.D832N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	832					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAACCCAAAGATTTTTATGC	0.328000														53			20		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92922828	92922828	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:92922828G>A	uc001yak.3	+	11	1154	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	SLC24A4_uc001yai.3_Silent_p.G313G|SLC24A4_uc010twm.2_Silent_p.G358G|SLC24A4_uc010auj.3_Silent_p.G249G|SLC24A4_uc010twn.2_Silent_p.G133G|SLC24A4_uc001yan.3_Silent_p.G71G	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	377						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TTGAGAACGGGAATGTTCCTG	0.597000											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			17		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37623548	37623548	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:37623548C>T	uc003onu.1	-	3	1686	c.507G>A	c.(505-507)tgG>tgA	p.W169*		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	169	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AACCCCGCTTCCAGATGAAGC	0.592000														22			6		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185099	53185099	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:53185099C>A	uc001say.3	-	6	1492	c.1426G>T	c.(1426-1428)Gat>Tat	p.D476Y		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	476	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCAGGTCATCCTTCGCCTGC	0.622000														80			44		4.16155e-14	4.23929e-14	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22399123	22399123	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:22399123G>A	uc001mqk.3	+	11	1999	c.1586G>A	c.(1585-1587)gGg>gAg	p.G529E		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	529					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAAGAAACAGGGGACATTACT	0.423000														59			15		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47969775	47969775	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:47969775C>T	uc002zjo.2	+	21	2797	c.2614C>T	c.(2614-2616)Cag>Tag	p.Q872*	DIP2A_uc011afy.1_Nonsense_Mutation_p.Q808*|DIP2A_uc011afz.1_Nonsense_Mutation_p.Q868*|DIP2A_uc002zjn.3_Nonsense_Mutation_p.Q872*	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	872					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.S871N(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGACAGCTTCCAGTGGATGAG	0.647000														75			37		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75434908	75434908	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:75434908C>T	uc009zry.3	-	3	1878	c.1859G>A	c.(1858-1860)gGa>gAa	p.G620E	KCNC2_uc001sxe.3_3'UTR|KCNC2_uc001sxf.3_3'UTR	NM_139136	NP_631874	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 1, mRNA.	0					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AAGTCTGTTTCCAGTATAGTC	0.433000														41			14		0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65318931	65318931	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:65318931C>T	uc001oej.3	-	9	1832	c.1563G>A	c.(1561-1563)gaG>gaA	p.E521E	LTBP3_uc001oeh.3_5'Flank|LTBP3_uc010roi.2_Silent_p.E404E|LTBP3_uc001oei.3_Silent_p.E521E|LTBP3_uc010roj.2_Silent_p.E222E|LTBP3_uc010rok.1_Silent_p.E432E|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	521						extracellular region	calcium ion binding|growth factor binding	p.E521D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCACTGACCTCTCCTCACTCA	0.637000														37			12		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841188	13841188	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:13841188G>A	uc003jfd.2	-	33	5578	c.5536C>T	c.(5536-5538)Ctt>Ttt	p.L1846F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1846	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTTCTAAGGGCTTCTTCT	0.368000									Kartagener syndrome					62			20		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247611	164247611	+	Silent	SNP	A	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:164247611A>G	uc003iqm.2	-	1	561	c.96T>C	c.(94-96)gaT>gaC	p.D32D	NPY1R_uc021xtv.1_Silent_p.D32D|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	32					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCAGATGACAATCATCATTTT	0.393000														83			29		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123136850	123136850	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:123136850C>T	uc003vkn.3	-	6	1711	c.1134G>A	c.(1132-1134)agG>agA	p.R378R	IQUB_uc003vko.3_Silent_p.R378R|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Silent_p.R378R	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	378										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTCTTATCTTCCTTAGTTCTT	0.333000														24			12		0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48318136	48318136	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:48318136C>T	uc010nid.3	-	14	1373	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	SLC38A5_uc004djk.4_Missense_Mutation_p.D348N	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	399					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCAAAGATATCCCGGATGGTT	0.517000														26			8		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127666379	127666379	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:127666379C>T	uc003kuu.3	-	32	4670	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	FBN2_uc003kuv.2_Missense_Mutation_p.E1378K	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1411	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.E1411Q(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTAGAACATTCGTCCAGATCT	0.428000														48			13		0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825364	64825364	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:64825364G>A	uc001ocn.3	-	2	479	c.463C>T	c.(463-465)Cct>Tct	p.P155S	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	155					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GTTCCAGAAGGAGCATAGGCA	0.647000														77			23		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91774779	91774779	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:91774779C>T	uc010aty.3	-	16	3076	c.2922G>A	c.(2920-2922)atG>atA	p.M974I		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	974					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTTCTTCTTTCATGGCTAGTG	0.398000														70			36		0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140785745	140785745	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:140785745C>T	uc004fbq.3	-	1	264	c.171G>A	c.(169-171)agG>agA	p.R57R		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	57						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					TTTTAAAGTTCCTCCTGTAGC	0.483000														154			93		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196799380	196799380	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:196799380C>T	uc002utj.4	-	20	3507	c.3406G>A	c.(3406-3408)Gcc>Acc	p.A1136T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1136	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACCTCTGGCTTTGGCTGTT	0.383000														124			45		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485599	60485599	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:60485599C>T	uc002ybn.2	+	8	1398	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	CDH4_uc002ybr.2_Missense_Mutation_p.P400L|CDH4_uc002ybp.2_Missense_Mutation_p.P363L	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	437	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGTGGGGATCCATCCGGGCAC	0.602000														48			11		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288903	17288903	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:17288903C>T	uc002zlv.3	-	1	159	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	XKR3_uc011agf.2_Missense_Mutation_p.E21K	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	21						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACTATTTCTTCTTTCGAAGAT	0.418000														94			43		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108011981	108011981	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:108011981G>A	uc001tmk.1	+	9	2799	c.2278G>A	c.(2278-2280)Gat>Aat	p.D760N	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.D760N|BTBD11_uc001tml.1_Missense_Mutation_p.D297N	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	760						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGAGAAGAGTGATATCCTGTC	0.577000														67			15		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123490021	123490021	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:123490021C>T	uc001uej.1	-	5	917	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PITPNM2_uc001uek.1_Missense_Mutation_p.E240K|PITPNM2_uc009zxu.1_Missense_Mutation_p.E240K	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	240					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGATGTTCTCCATGCTCAGC	0.612000														146			46		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606578	21606578	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:21606578G>A	uc002npw.3	+	3	1236	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R	ZNF493_uc002npx.3_Missense_Mutation_p.G245R|ZNF493_uc002npy.3_Missense_Mutation_p.G245R|ZNF493_uc021urq.1_Missense_Mutation_p.G245R	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATTCATACTGGAGAGAAACC	0.358000														65			20		0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194379860	194379860	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:194379860T>A	uc003fui.3	-	6	900	c.585A>T	c.(583-585)gaA>gaT	p.E195D		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	195					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCACATAACATTCCTAAGCAA	0.398000														92			43		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801068	185801068	+	Silent	SNP	A	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:185801068A>G	uc002uph.3	+	3	1539	c.945A>G	c.(943-945)caA>caG	p.Q315Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	315						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCAAGTTTCAACTTCAGTTAT	0.333000														57			16		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71046974	71046974	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:71046974G>A	uc002shf.3	-	1	188	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CLEC4F_uc010yqv.1_Silent_p.L37L	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	37					endocytosis	integral to membrane	receptor activity|sugar binding	p.R36M(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TAGCCTGAACGAGCCTCGGTA	0.557000														68			14		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444801	78444801	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:78444801C>T	uc001syp.3	+	10	2563	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L	NAV3_uc001syo.3_Missense_Mutation_p.S797L|NAV3_uc010sub.2_Missense_Mutation_p.S297L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	797						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						GGAAACATGTCACAGATTGAC	0.507000										HNSCC(70;0.22)				53			24		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586332	169586332	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:169586332G>A	uc001ggi.4	-	2	480	c.415C>T	c.(415-417)Ccg>Tcg	p.P139S	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.P139S	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	139	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGGGCTGACGGACTCTTGATG	0.463000														142			56		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38774977	38774977	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:38774977C>T	uc003gtj.3	-	3	2873	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	TLR10_uc021xnk.1_Silent_p.L731L|TLR10_uc003gti.3_Silent_p.L745L|TLR10_uc021xnl.1_Silent_p.L745L|TLR10_uc003gtk.3_Silent_p.L745L|TLR10_uc021xnm.1_Silent_p.L745L	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	745	TIR.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GGAGAGCTTTCAGTTTATGAT	0.403000														83			36		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127833	152127833	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:152127833G>A	uc001ezs.1	-	2	1807	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	581	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AATATAGTGGGAACTCTGGCC	0.463000														460			176		0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27338932	27338932	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:27338932G>A	uc010ofj.2	-	0	402	c.230C>T	c.(229-231)cCc>cTc	p.P77L	BC016143_uc021ojq.1_Intron	NM_052943	NP_443175	Q96A09	FA46B_HUMAN	Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA.	77										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCAGCGTGGGGAAGTTGCC	0.657000														3			7		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204943419	204943419	+	Splice_Site	SNP	G	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:204943419G>T	uc010prc.2	+	12	1532	c.3_splice	c.e12+1	p.M1_splice	NFASC_uc001hbh.3_Splice_Site_p.W464_splice|NFASC_uc010pqz.2_Splice_Site_p.W458_splice|NFASC_uc001hbj.3_Splice_Site_p.W464_splice|NFASC_uc010pra.2_Splice_Site_p.W475_splice|NFASC_uc001hbi.3_Splice_Site_p.W475_splice|NFASC_uc009xbg.1_Missense_Mutation_p.W548C|NFASC_uc010prb.2_Splice_Site_p.W475_splice|NFASC_uc001hbk.1_Splice_Site_p.W285_splice			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	0					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACTGCGATGGTAAGTTCCAG	0.562000														23			10		4.68919e-08	4.73489e-08	1	1	0
EPS8L3	79574	broad.mit.edu	37	1	110302390	110302390	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:110302390G>A	uc001dyr.2	-	3	390	c.165C>T	c.(163-165)ttC>ttT	p.F55F	EPS8L3_uc001dys.2_Silent_p.F55F|EPS8L3_uc001dyq.2_Silent_p.F55F|EPS8L3_uc009wfm.2_Silent_p.F21F|EPS8L3_uc009wfn.2_Silent_p.F21F|EPS8L3_uc009wfo.2_Intron	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	55						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CATCCATCTCGAACAGCTTCT	0.607000														38			39		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231379974	231379974	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:231379974C>T	uc002vqt.3	+	24	2400	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	753					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAACCTATATCCCTCCTAAAG	0.423000														70			41		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23858602	23858602	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:23858602C>T	uc001wjv.3	-	28	4049	c.3978_splice	c.e28+1	p.K1326_splice	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1326					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGGCCTCACCTTGCCCTCCT	0.587000														81			27		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832468	130832468	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:130832468G>A	uc010fmh.2	-	16	2977	c.2577C>T	c.(2575-2577)gtC>gtT	p.V859V		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	859	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGTGTGGGTGACCCCGTCAC	0.612000														62			26		0	0	1	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324696	52324696	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:52324696C>T	uc003ddo.3	+	1	434	c.338C>T	c.(337-339)cCc>cTc	p.P113L	GLYCTK_uc003ddq.2_Missense_Mutation_p.P113L|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Non-coding_Transcript|GLYCTK_uc003ddp.1_Missense_Mutation_p.P113L|GLYCTK_uc003ddr.3_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	113					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		ATCAGCGTTCCCAAGGGGATC	0.612000														40			14		0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74077385	74077385	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:74077385G>A	uc002jqn.2	+	5	654	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Non-coding_Transcript|EXOC7_uc002jqp.2_3'UTR|EXOC7_uc010dgv.2_3'UTR|EXOC7_uc010wsv.2_3'UTR|EXOC7_uc002jqs.3_3'UTR|EXOC7_uc010wsw.2_3'UTR|EXOC7_uc002jqq.3_3'UTR|EXOC7_uc010wsx.2_3'UTR|EXOC7_uc002jqr.3_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	191					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CCAGGCCCACGTGGTGAACGA	0.552000														127			57		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137206693	137206693	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:137206693G>A	uc003vtt.3	-	20	2168	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	DGKI_uc003vtu.3_Missense_Mutation_p.R423C	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCCTCAGACGATCTGGGACA	0.463000														27			6		0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91405830	91405830	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:91405830G>A	uc001dnw.3	-	2	1364	c.1081C>T	c.(1081-1083)Caa>Taa	p.Q361*	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Nonsense_Mutation_p.Q361*	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATTAGATGTTGGAAGGCATCC	0.358000														147			52		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164760924	164760924	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:164760924C>T	uc003fei.3	-	16	1990	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	643	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.T642R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAAGTTCTTCTGTGGTTTCA	0.368000										HNSCC(35;0.089)				41			22		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494450	7494450	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:7494450G>A	uc003bqm.2	+	5	1605	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G444E|GRM7_uc003bql.2_Missense_Mutation_p.G444E|GRM7_uc003bqn.1_Missense_Mutation_p.G27E|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	444					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAGCAAGCTGGAGGCAAGAAG	0.463000														33			6		0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188423	70188423	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:70188423G>A	uc002sfz.4	-	0	975	c.398C>T	c.(397-399)aCc>aTc	p.T133I		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	133					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCTTAGCTTGGTGATATGGTC	0.537000														45			19		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21348405	21348405	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:21348405G>A	uc002zto.3	+	13	1565	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	LZTR1_uc002ztn.3_Missense_Mutation_p.E447K|LZTR1_uc011ahy.2_Missense_Mutation_p.E469K|LZTR1_uc010gsr.1_Missense_Mutation_p.E359K	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	488	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCTGGAGCAGGAGGCCGCCCC	0.726000														11			3		0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65294435	65294435	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:65294435C>T	uc001oea.1	+	5	773	c.696C>T	c.(694-696)atC>atT	p.I232I	SCYL1_uc009yqk.3_Silent_p.I232I|SCYL1_uc001oeb.1_Silent_p.I232I|SCYL1_uc001oec.1_Silent_p.I232I	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	232	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCCTACAGATCCCCAAAACGC	0.637000														40			9		0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650710	55650710	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:55650710C>T	uc004duo.3	+	0	878	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	189					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAGAGAAGTCCTGGCAAAGG	0.498000														41			32		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58573698	58573698	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:58573698T>A	uc002env.3	-	34	5259	c.4966A>T	c.(4966-4968)Ata>Tta	p.I1656L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.I1651L|CNOT1_uc010vik.2_Missense_Mutation_p.I613L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1656					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAGCAGCTATGGCATCCCGA	0.438000														58			28		0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011145	40011145	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:40011145C>T	uc003xnq.2	+	0	159	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA.	32					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CACAGCCTCTCGTAAGAAAGC	0.502000														60			25		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8258108	8258108	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:8258108G>A	uc003sro.4	-	5	542	c.406C>T	c.(406-408)Cga>Tga	p.R136*	ICA1_uc010ktr.3_Nonsense_Mutation_p.R136*|ICA1_uc003srm.3_Nonsense_Mutation_p.R136*|ICA1_uc003srn.4_Nonsense_Mutation_p.R62*|ICA1_uc003srq.3_Nonsense_Mutation_p.R136*|ICA1_uc003srr.3_Nonsense_Mutation_p.R135*|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Nonsense_Mutation_p.R136*	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	136	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGGTGAAATCGACACAAAGGA	0.473000														45			20		0	0	1	0	0
ERI2	112479	broad.mit.edu	37	16	20810648	20810648	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:20810648G>A	uc010vbb.1	-	7	712	c.669C>T	c.(667-669)gcC>gcT	p.A223A	ERI2_uc002dht.3_Silent_p.A130A|ERI2_uc002dhs.3_Silent_p.A223A|ERI2_uc010bwh.2_Silent_p.A130A|ERI2_uc010vbc.1_5'UTR|ERI2_uc002dhu.1_Silent_p.A223A	NM_001142725	NP_001136197	A8K979	ERI2_HUMAN	Homo sapiens ERI1 exoribonuclease family member 2 (ERI2), transcript variant 1, mRNA.	223	Exonuclease.					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						AAGCAAGAAGGGCAGTATTCC	0.358000														78			29		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215838741	215838741	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:215838741C>T	uc002vew.3	-	35	5714	c.5494G>A	c.(5494-5496)Gaa>Aaa	p.E1832K	ABCA12_uc002vev.3_Missense_Mutation_p.E1514K|ABCA12_uc010zjn.2_Missense_Mutation_p.E759K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1832					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCCATTTTTCCAGACTGTCT	0.378000														44			18		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531727	92531727	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:92531727C>T	uc001pdj.4	+	8	5565	c.5548C>T	c.(5548-5550)Cat>Tat	p.H1850Y		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1850	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCATTTTCATGTGCATGT	0.463000										TCGA Ovarian(4;0.039)				29			13		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20005705	20005705	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:20005705C>T	uc010rdm.2	+	11	3110	c.2749C>T	c.(2749-2751)Cgt>Tgt	p.R917C	NAV2_uc001mpp.3_Missense_Mutation_p.R830C|NAV2_uc001mpr.4_Missense_Mutation_p.R894C|NAV2_uc021qew.1_Missense_Mutation_p.R894C	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	917						nucleus	ATP binding|helicase activity	p.R917S(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTCTATACCCGTCGCCTGAA	0.532000														94			34		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10483118	10483118	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:10483118C>T	uc001min.1	+	1	424	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	AMPD3_uc010rbz.1_5'UTR|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.R18W|AMPD3_uc001mio.1_Missense_Mutation_p.R18W|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.R25W|AMPD3_uc009yfy.2_Missense_Mutation_p.R18W	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	18					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGAGCAAGTCCGGCTCCTGGC	0.547000														145			46		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85985197	85985197	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:85985197C>T	uc010qmc.2	-	0	88	c.80G>A	c.(79-81)gGa>gAa	p.G27E	LRIT2_uc001kcy.3_Missense_Mutation_p.G27E	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	27	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCAAGTGCATCCTGGCAGACA	0.473000														34			9		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45369764	45369764	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:45369764C>T	uc002ilj.3	+	9	1540	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	507	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TATCGCCCTTCCCAGCAGGAC	0.622000														75			32		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008945	184008945	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:184008945G>A	uc003fni.4	+	16	2344	c.2306G>A	c.(2305-2307)gGg>gAg	p.G769E	ECE2_uc011brh.1_Missense_Mutation_p.G622E|ECE2_uc003fnl.4_Missense_Mutation_p.G697E|ECE2_uc003fnm.4_Missense_Mutation_p.G651E|ECE2_uc003fnk.4_Missense_Mutation_p.G622E|ECE2_uc011bri.1_Missense_Mutation_p.G684E|ECE2_uc010hxv.3_3'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	769	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGTCAATGGGGAGAGGCTC	0.617000														83			39		0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134871868	134871868	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:134871868G>A	uc003vsp.2	-	13	1997	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Silent_p.L234L	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	645										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CATCTGAGGGGAGGCTGTACT	0.592000														84			31		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716084	716085	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:716084_716085CC>TT	uc002cii.1	+	35	4623_4624	c.4569_4570CC>TT	c.(4567-4572)ccccac>ccTTac	p.H1524Y	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.H139Y|WDR90_uc002cio.1_Missense_Mutation_p.H123Y|WDR90_uc010bqx.1_Missense_Mutation_p.H123Y|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1524										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				AGATGCACCCCCACCCGGTGGC	0.673000														68			20		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17415849	17415849	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:17415849G>A	uc001mnc.3	-	36	4635	c.4509C>T	c.(4507-4509)atC>atT	p.I1503I		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1503	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTCGTCCATGATGAAGATGC	0.587000														74			32		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53207919	53207919	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:53207919C>T	uc001saz.3	-	0	146	c.146G>A	c.(145-147)cGa>cAa	p.R49Q		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	0						keratin filament	structural molecule activity	p.R49P(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCTCAGCCTTCGTCTCTTATA	0.567000														57			23		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33477071	33477071	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:33477071C>T	uc002hja.3	+	3	307	c.210C>T	c.(208-210)atC>atT	p.I70I	UNC45B_uc002hjb.3_Silent_p.I70I|UNC45B_uc002hjc.3_Silent_p.I70I|UNC45B_uc010cto.3_Silent_p.I70I	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	70					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGATAGCCATCGACATCAACT	0.597000														41			14		0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51295399	51295399	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:51295399G>A	uc002pta.1	+	4	520	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	174						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CGAGGCCGCCGAGTACCAGGA	0.706000														18			10		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64595015	64595015	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:64595015G>A	uc001obs.4	-	31	4134	c.4134C>T	c.(4132-4134)ctC>ctT	p.L1378L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1378					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCTGGTTCCTGAGGTAGGTCA	0.662000														38			17		0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132159880	132159880	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:132159880G>A	uc003kxx.3	-	6	2278	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	SHROOM1_uc003kxy.2_Silent_p.P491P	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	491					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCTGTGGGGGGATTGGTGG	0.537000														56			15		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141802440	141802440	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:141802440G>A	uc003vwy.3	+	45	5340	c.5286G>A	c.(5284-5286)ggG>ggA	p.G1762G		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1762	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACCTATGGGAAAGGACTCT	0.418000														19			8		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770514	31770514	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:31770514G>A	uc002nsy.4	-	1	250	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	62					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGCCGGGGAGTTCTGGTA	0.587000														37			15		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1783079	1783079	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:1783079G>A	uc002ltw.3	-	28	4085	c.3851C>T	c.(3850-3852)tCc>tTc	p.S1284F	ATP8B3_uc002ltv.3_Missense_Mutation_p.S1247F|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.	1284					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)		TGGGTCTAGGGATTCAGATGC	0.537000														22			11		0	0	1	0	0
E2F6	1876	broad.mit.edu	37	2	11593908	11593908	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:11593908C>T	uc002rbh.3	-	2	472	c.180G>A	c.(178-180)aaG>aaA	p.K60K	E2F6_uc002rbg.3_5'UTR|E2F6_uc002rbi.3_5'UTR|E2F6_uc010yjl.2_Non-coding_Transcript|E2F6_uc002rbe.3_5'UTR|E2F6_uc002rbf.3_Silent_p.K28K|E2F6_uc002rbj.1_Intron	NM_198256	NP_937987	O75461	E2F6_HUMAN	Homo sapiens E2F transcription factor 6 (E2F6), mRNA.	60					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AACGAGGTCTCTTCACTTTTA	0.328000														32			20		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796666	21796666	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:21796666G>A	uc001wag.3	+	17	2979	c.2979G>A	c.(2977-2979)aaG>aaA	p.K993K	RPGRIP1_uc001wah.3_Silent_p.K635K|RPGRIP1_uc001wai.3_Silent_p.K319K|RPGRIP1_uc001wak.3_Silent_p.K468K|RPGRIP1_uc010aim.3_Silent_p.K376K|RPGRIP1_uc001wal.3_Silent_p.K352K|RPGRIP1_uc001wam.3_Silent_p.K310K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	993	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGAAAGAAAGGAGAAGGAGC	0.433000														55			27		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	G	G	rs121434595		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:115258745C>G	uc009wgu.3	-	1	291	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	13			G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G12D(379)|p.G13D(192)|p.G13R(152)|p.G12S(135)|p.G12C(84)|p.G12V(60)|p.G13V(57)|p.G13C(46)|p.G12A(42)|p.G12R(18)|p.G13A(16)|p.G13S(10)|p.G12G(4)|p.G13G(3)|p.G13N(2)|p.G13Y(2)|p.G12N(2)|p.G12?(1)|p.G12E(1)|p.G12T(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498000	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				92			50		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2604963	2604963	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:2604963G>A	uc002wgf.1	+	16	2242	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N	TMC2_uc002wgg.1_Missense_Mutation_p.D727N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	743						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATTGAAAACGATTTCCCAAC	0.483000														87			25		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104092971	104092971	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:104092971C>T	uc001tjw.3	+	33	3866	c.3680C>T	c.(3679-3681)tCc>tTc	p.S1227F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1227	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGGTTTCTCCTATTTCCTT	0.483000														44			17		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26508829	26508829	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:26508829G>A	uc003nif.4	+	6	1065	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	336	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AACTGCCTGAGAAAACAGAGA	0.507000														141			56		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262127	45262127	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:45262127G>A	uc003jok.3	-	7	2594	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	857	Poly-Pro.			P -> L (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTGCTGGAGGGACTCCTCGG	0.597000														82			26		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78604228	78604228	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:78604228A>T	uc001syp.3	+	39	7262	c.7089A>T	c.(7087-7089)caA>caT	p.Q2363H	NAV3_uc001syo.3_Missense_Mutation_p.Q2341H|NAV3_uc010sub.2_Missense_Mutation_p.Q1820H|NAV3_uc009zsf.3_Missense_Mutation_p.Q1172H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2363						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T2362T(1)		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						CGAGCACACAAAGCTGCGACA	0.413000										HNSCC(70;0.22)				56			18		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61559949	61559949	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:61559949C>T	uc002jau.2	+	7	1275	c.1241C>T	c.(1240-1242)cCc>cTc	p.P414L	ACE_uc010wpi.2_Missense_Mutation_p.P414L|ACE_uc010ddu.2_Missense_Mutation_p.P231L|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	414	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.N413K(1)|p.N413H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGGGCCAACCCCGGCTTCCAT	0.597000														124			41		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90749692	90749692	+	Silent	SNP	C	T	T	rs116340115	by1000genomes	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:90749692C>T	uc011lti.2	-	0	209	c.180G>A	c.(178-180)aaG>aaA	p.K60K		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	60																	CCTTTCTCTTCTTAGGCGATG	0.458000														47			5		0	0	1	0	0
GJB3	2707	broad.mit.edu	37	1	35250896	35250896	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:35250896T>A	uc001bxz.4	+	0	533	c.533T>A	c.(532-534)aTt>aAt	p.I178N	GJB3_uc001bxx.3_Missense_Mutation_p.I178N|GJB3_uc001bxy.3_Missense_Mutation_p.I178N	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	178					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GACTGCTACATTGCCCGACCT	0.577000														103			48		0	0	1	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47969370	47969370	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:47969370G>A	uc011mlv.2	+	1	79	c.7G>A	c.(7-9)Gga>Aga	p.G3R	LOC100509575_uc022bvt.1_Non-coding_Transcript	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.	3					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										TGCCATGAACGGAGACGACGC	0.567000														58			34		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650043	48650043	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:48650043G>A	uc002irk.1	+	5	1247	c.875G>A	c.(874-876)gGg>gAg	p.G292E	CACNA1G_uc002iri.1_Missense_Mutation_p.G292E|CACNA1G_uc002irj.1_Missense_Mutation_p.G292E|CACNA1G_uc002irl.1_Missense_Mutation_p.G292E|CACNA1G_uc002irm.1_Missense_Mutation_p.G292E|CACNA1G_uc002irn.1_Missense_Mutation_p.G292E|CACNA1G_uc002iro.1_Missense_Mutation_p.G292E|CACNA1G_uc002irp.1_Missense_Mutation_p.G292E|CACNA1G_uc002irq.1_Missense_Mutation_p.G292E|CACNA1G_uc002irr.1_Missense_Mutation_p.G292E|CACNA1G_uc002irs.1_Missense_Mutation_p.G292E|CACNA1G_uc002irt.1_Missense_Mutation_p.G292E|CACNA1G_uc002iru.1_Missense_Mutation_p.G292E|CACNA1G_uc002irv.1_Missense_Mutation_p.G292E|CACNA1G_uc002irw.1_Missense_Mutation_p.G292E|CACNA1G_uc002irx.1_Missense_Mutation_p.G205E|CACNA1G_uc002iry.1_Missense_Mutation_p.G205E|CACNA1G_uc002isg.1_Missense_Mutation_p.G205E|CACNA1G_uc002ish.1_Missense_Mutation_p.G205E|CACNA1G_uc002isi.1_Missense_Mutation_p.G205E|CACNA1G_uc002irz.1_Missense_Mutation_p.G205E|CACNA1G_uc002isa.1_Missense_Mutation_p.G205E|CACNA1G_uc002isd.1_Missense_Mutation_p.G205E|CACNA1G_uc002isb.1_Missense_Mutation_p.G205E|CACNA1G_uc002isc.1_Missense_Mutation_p.G205E|CACNA1G_uc002ise.1_Missense_Mutation_p.G205E|CACNA1G_uc002isf.1_Missense_Mutation_p.G205E	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	292	Poly-Gly.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGCGGGGACGGGGGCGGTGGC	0.622000														18			12		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093735	1093735	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:1093735C>T	uc001lsx.1	+	31	5569	c.5542C>T	c.(5542-5544)Cct>Tct	p.P1848S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1932						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CACATCCAATCCTCCGCCTGA	0.602000														255			56		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137166	56137166	+	Silent	SNP	C	T	T	rs144697339	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:56137166C>T	uc002xyn.4	+	2	427	c.264C>T	c.(262-264)atC>atT	p.I88I	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	88					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGGCCAGGATCGAAAGCAAGA	0.562000														46			16		0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11725466	11725466	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:11725466T>C	uc002msk.2	+	1	336	c.128T>C	c.(127-129)gTa>gCa	p.V43A		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CTGGCTTCTGTAGGTAAGGGT	0.478000														107			38		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33634975	33634975	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:33634975G>A	uc001uus.3	+	3	1767	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	587	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTTACTCCAGGAAATGCACGT	0.502000														105			41		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524905	112524905	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:112524905C>T	uc001ebu.1	-	1	924	c.444G>A	c.(442-444)atG>atA	p.M148I	KCND3_uc001ebv.1_Missense_Mutation_p.M148I	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	148						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.M148L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CGTTGTCGTCCATGAGCCGCT	0.632000														56			32		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706813	96706813	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:96706813G>A	uc010how.1	+	2	1133	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	EPHA6_uc003drp.1_Missense_Mutation_p.E364K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	269	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TACAGGATATGAAGAAATTGA	0.343000														64			24		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97532119	97532119	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:97532119G>A	uc002sxg.4	-	0	549	c.318C>T	c.(316-318)ttC>ttT	p.F106F	SEMA4C_uc002sxh.4_Silent_p.F53F	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	53	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TCAGTGTCAGGAAGTCCTGGA	0.657000														76			22		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179452321	179452321	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:179452321G>A	uc001gmo.3	+	17	2443	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E644K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	686										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GATAGGCAATGAAATTAACAA	0.353000														61			30		0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242572546	242572546	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:242572546G>A	uc002wbt.3	-	1	1319	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	342							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCAGTGAGTCGATGAGCTTGC	0.627000														39			15		0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56137491	56137491	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:56137491G>A	uc001shq.3	+	0	428	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_005811	NP_005802	O95390	GDF11_HUMAN	Homo sapiens growth differentiation factor 11 (GDF11), mRNA.	131					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGACTTCCTGGAGGAGGACGA	0.677000														31			12		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165997345	165997345	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:165997345A>T	uc002ucx.3	-	12	2327	c.1835T>A	c.(1834-1836)tTt>tAt	p.F612Y	SCN3A_uc002ucy.3_Missense_Mutation_p.F612Y|SCN3A_uc002ucz.3_Missense_Mutation_p.F612Y|SCN3A_uc002uda.1_Missense_Mutation_p.F481Y|SCN3A_uc002udb.1_Missense_Mutation_p.F481Y	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	612						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTGCGGCACAAACAGTGAGTC	0.498000														53			23		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876418	18876418	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:18876418C>T	uc021qvx.1	-	3	385	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_Intron	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	65	EF-hand.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R65Q(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CGTGATAATTCGATAAATTGC	0.343000														44			17		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830301	61830301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:61830301C>T	uc001jky.3	-	36	10676	c.10338G>A	c.(10336-10338)tgG>tgA	p.W3446*	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3446					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTCTGTGTTCCAGATATCTT	0.458000														77			24		0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47269705	47269705	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:47269705G>A	uc004dhr.1	+	1	172	c.103G>A	c.(103-105)Gat>Aat	p.D35N		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	35	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGTGGCTGTGGATTTCACCCG	0.498000														54			31		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332276	100332276	+	RNA	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:100332276G>A	uc021sxl.1	-	1		c.877C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GTCTGTGAGTGGGGAGACCCA	0.662000														71			19		0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241622144	241622144	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:241622144G>A	uc010fzj.3	-	0	174	c.111C>T	c.(109-111)ttC>ttT	p.F37F	AQP12B_uc002vzt.3_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.	37						integral to membrane	transporter activity	p.F37I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCTCCCGGGCGAAGACTTCAT	0.672000														100			17		0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250778	35250778	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:35250778G>A	uc010edn.1	-	3	1316	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	ZNF599_uc010edm.2_Missense_Mutation_p.P273S	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K309N(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CATAAAAAGGGTTTTTCTCGA	0.418000														113			33		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63669730	63669730	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:63669730G>T	uc001nxw.3	+	11	1741	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	MARK2_uc001nxv.4_Missense_Mutation_p.A388S|MARK2_uc001nxx.3_Missense_Mutation_p.A388S|MARK2_uc001nxy.3_Missense_Mutation_p.A388S|MARK2_uc001nxz.4_Missense_Mutation_p.A355S|MARK2_uc009yoy.3_Missense_Mutation_p.A355S	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	388					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAATAGCAGCGCCCCATCCCC	0.572000											OREG0021038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			25		1.64293e-13	1.66871e-13	1	1	0
LGR5	8549	broad.mit.edu	37	12	71950406	71950406	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:71950406C>T	uc001swl.3	+	5	700	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	LGR5_uc001swm.3_Missense_Mutation_p.H218Y|LGR5_uc021rar.1_Missense_Mutation_p.H146Y|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	218						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAGACATCTCCATAACAATAG	0.388000														87			26		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10261117	10261117	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:10261117C>T	uc002gmk.1	-	7	763	c.673G>A	c.(673-675)Gcc>Acc	p.A225T		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	225	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGTGGGTTGGCCTGGATGATC	0.443000														72			31		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102361015	102361015	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:102361015G>A	uc003knt.3	+	22	3039	c.2666G>A	c.(2665-2667)tGg>tAg	p.W889*	PAM_uc003knw.3_Nonsense_Mutation_p.W889*|PAM_uc003kns.3_Nonsense_Mutation_p.W782*|PAM_uc003knu.3_Intron|PAM_uc011cuz.2_Nonsense_Mutation_p.W791*|PAM_uc003knv.3_Intron|PAM_uc003knz.3_Nonsense_Mutation_p.W129*	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	889					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTTATTCGGTGGAAAAAATCA	0.473000														82			35		0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57650227	57650227	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:57650227G>A	uc009zpm.1	-	19	2510	c.2475C>T	c.(2473-2475)ctC>ctT	p.L825L	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Silent_p.L520L|R3HDM2_uc001snr.2_Silent_p.L552L|R3HDM2_uc001sns.2_Silent_p.L825L|R3HDM2_uc001snt.2_Silent_p.L839L	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	825						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACTGGCCATGGAGCAAGGGAG	0.542000														12			6		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763578	113763579	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:113763578_113763579GG>AA	uc010yxr.2	+	1	38_39	c.38_39GG>AA	c.(37-39)ggg>gAA	p.G13E		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	13					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.Q12*(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CCTCAGCAGGGGAGCATTCAGG	0.470000														71			18		0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46058647	46058647	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:46058647C>T	uc010wlc.2	+	12	1586	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	CDK5RAP3_uc002imq.1_Silent_p.L243L|CDK5RAP3_uc002imr.3_Silent_p.L468L|CDK5RAP3_uc002ims.3_Silent_p.L381L	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	468					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GCAGGCGGCTCTGGAGCCTAA	0.572000														44			19		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70488850	70488850	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:70488850G>A	uc001dep.3	+	14	1503	c.1473G>A	c.(1471-1473)ggG>ggA	p.G491G	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	491						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCAGCGTGGGATTACTCTCC	0.557000														45			28		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324664	31324664	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:31324664G>A	uc010dmg.1	+	11	4907	c.4852G>A	c.(4852-4854)Gga>Aga	p.G1618R	ASXL3_uc002kxq.2_Missense_Mutation_p.G1325R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGGAGCACAGGACAGCCTCT	0.443000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			13		0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46877286	46877286	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:46877286C>T	uc001cpu.2	+	11	1401	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L	FAAH_uc001cpv.2_Intron	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	440					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CTGCCCAGTTCGGCTGGAAAA	0.597000														28			11		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76797204	76797204	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:76797204G>A	uc002bby.3	-	22	3009	c.2950C>T	c.(2950-2952)Cct>Tct	p.P984S	SCAPER_uc010bkr.3_Missense_Mutation_p.P292S|SCAPER_uc002bbx.3_Missense_Mutation_p.P738S|SCAPER_uc002bbz.1_Missense_Mutation_p.P855S	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	983						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACTTACTTAGGAGGAATTCTT	0.378000														12			8		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516200	51516200	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:51516200G>A	uc010ric.2	+	0	919	c.919G>A	c.(919-921)Ggt>Agt	p.G307S		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GGACATTTCAGGTGACAAATA	0.358000														46			18		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55361822	55361822	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:55361822C>T	uc002lgw.3	-	10	1141	c.1021G>A	c.(1021-1023)Gtt>Att	p.V341I	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	341					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ACCGTGTAAACCATGTAGTTC	0.294000														22			6		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713503	23713503	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:23713503C>T	uc002dma.4	-	10	1486	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	ERN2_uc010bxp.3_Silent_p.E439E|ERN2_uc010bxq.1_Silent_p.E247E	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	391					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCTGGGTATTCTCTGGAGGTC	0.617000														79			44		0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99980236	99980236	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:99980236A>G	uc002tab.3	+	4	1232	c.1048A>G	c.(1048-1050)Aag>Gag	p.K350E		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	350					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCTCTGGCTAAGCTTAAAGA	0.373000														53			12		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132481	15132481	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:15132481G>A	uc002nae.2	+	4	1194	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	365					microtubule cytoskeleton organization	microtubule		p.T365T(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCGGTGTACGAAATATAACC	0.592000														48			18		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150840688	150840688	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:150840688G>A	uc003eyp.3	+	2	452	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	MED12L_uc011bnz.2_Missense_Mutation_p.R108Q|MED12L_uc003eym.1_Missense_Mutation_p.R108Q|MED12L_uc003eyn.3_Missense_Mutation_p.R108Q|MED12L_uc003eyo.3_Missense_Mutation_p.R108Q	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	108					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTACTGCTCGATCCCAGAGT	0.358000														26			13		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70551549	70551549	+	Missense_Mutation	SNP	G	A	A	rs149620212		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:70551549G>A	uc002ezc.3	-	2	360	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	COG4_uc002ezd.3_Missense_Mutation_p.R117C|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	113	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.R117C(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCAAGCTGACGAACTTTGCTG	0.458000														62			29		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142445269	142445269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:142445269C>T	uc003ywi.2	-	27	3714	c.3633G>A	c.(3631-3633)tgG>tgA	p.W1211*	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	1212							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCCCCTCTCCCAGGCCAGCG	0.677000														20			7		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374449	8374449	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:8374449G>A	uc001qui.2	-	6	1923	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	FAM90A1_uc001quh.2_Missense_Mutation_p.S455F	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	455							nucleic acid binding|zinc ion binding	p.S455S(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTCCTCTGAGGAGGAGGGAAC	0.607000														39			13		0	0	1	0	0
FGF20	26281	broad.mit.edu	37	8	16850796	16850796	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:16850796C>T	uc003wxc.1	-	2	554	c.421G>A	c.(421-423)Gag>Aag	p.E141K	FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.	141					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCAAACTGCTCCCTAAAGATG	0.348000														127			41		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609813	117609813	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:117609813C>T	uc003pxp.1	-	42	7085	c.6886G>A	c.(6886-6888)Gaa>Aaa	p.E2296K	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2296					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E2296K(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GATTCAGATTCCTGGGAGCCT	0.453000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									58			23		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8603098	8603098	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:8603098G>A	uc003glm.3	+	2	544	c.370G>A	c.(370-372)Ggc>Agc	p.G124S	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.G113S|CPZ_uc003gln.3_5'UTR	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	124	FZ.				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CATCTGCGAGGGCCTGCGGGA	0.692000														7			6		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672267	39672267	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:39672267G>A	uc021wjc.1	+	0	1084	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	KCNJ15_uc002ywv.3_Missense_Mutation_p.E362K|KCNJ15_uc002yww.3_Missense_Mutation_p.E362K|KCNJ15_uc002ywx.3_Missense_Mutation_p.E362K	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	362					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GGATCAGAGGGAAAGAGAACT	0.468000														69			18		0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014612	114014612	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:114014612C>T	uc003ebg.2	+	1	1037	c.282C>T	c.(280-282)acC>acT	p.T94T		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	94	Ig-like V-type.				negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TGGGCCTCACCCTCCAGTCGC	0.577000														65			19		0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544514	39544514	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:39544514G>A	uc001zkg.2	+	1	546	c.178G>A	c.(178-180)Gag>Aag	p.E60K	C15orf54_uc021sjb.1_Missense_Mutation_p.E60K	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	60										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TCACATGACGGAGCTCCCTCT	0.433000														258			105		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945633	144945634	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:144945633_144945634CC>TT	uc003zaa.1	-	0	1801_1802	c.1788_1789GG>AA	c.(1786-1791)gtgggc>gtAAgc	p.G597S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	597						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGGCTGCCCACATCCTTGG	0.639000														17			9		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32241212	32241212	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:32241212C>T	uc011alu.2	+	29	3212	c.3010C>T	c.(3010-3012)Cgc>Tgc	p.R1004C	DEPDC5_uc011als.2_Missense_Mutation_p.R926C|DEPDC5_uc003als.3_Missense_Mutation_p.R995C|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.R995C|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.R444C|DEPDC5_uc011alw.1_Missense_Mutation_p.R325C|DEPDC5_uc003alw.3_Missense_Mutation_p.R293C|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'UTR	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	995					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCGCTCGGATCGCATGATGCG	0.602000														24			7		0	0	1	0	0
C15orf60	283677	broad.mit.edu	37	15	73832829	73832829	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:73832829G>A	uc002avq.3	+	2	281	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	C15orf60_uc010bjb.3_Intron	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	Homo sapiens chromosome 15 open reading frame 60 (C15orf60), mRNA.	85										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTTTCAGGAAGGGTTTTCACT	0.358000														188			66		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019909	56019909	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56019909G>A	uc010rjd.2	+	0	234	c.234G>A	c.(232-234)ttG>ttA	p.L78L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGGTTGTGTTGGTCATTGAGG	0.378000														71			29		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29606651	29606651	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:29606651C>T	uc002rmy.3	-	4	2181	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	410	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S409I(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCTGCGGTTTCCACTGGAGAT	0.512000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					51			26		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156562	106156562	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:106156562A>G	uc011cez.2	+	2	1931	c.1526A>G	c.(1525-1527)aAt>aGt	p.N509S	TET2_uc003hxk.3_Missense_Mutation_p.N488S|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.N488S|TET2_uc010ilp.2_Missense_Mutation_p.N488S|TET2_uc021xql.1_Missense_Mutation_p.N488S	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	488					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S509*(5)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GTGAACAGGAATGACATACAG	0.458000			"""Mis N, F"""		MDS									73			29		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51778369	51778369	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:51778369G>A	uc010ufy.2	-	22	5608	c.5383C>T	c.(5383-5385)Cct>Tct	p.P1795S	DMXL2_uc002abf.3_Missense_Mutation_p.P1795S|DMXL2_uc010bfa.3_Missense_Mutation_p.P1159S	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1795						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.P1795H(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CGCAGGAAAGGATCAGGATGT	0.413000														62			24		0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157067777	157067777	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:157067777G>A	uc001fqq.2	-	3	775	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	164						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				ATGCTGTGCAGGAGCTGAGGG	0.557000														55			19		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31348049	31348049	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:31348049G>A	uc001wqr.2	+	4	352	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	COCH_uc001wqp.2_Missense_Mutation_p.R91Q|COCH_uc001wqq.4_Missense_Mutation_p.R91Q|LOC100506071_uc001wqs.3_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	91	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGACCTGTACGAGTCTATAGC	0.458000														77			31		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755860	242755860	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:242755860C>T	uc002wcp.2	+	1	712	c.218C>T	c.(217-219)aCg>aTg	p.T73M	NEU4_uc010fzr.3_Missense_Mutation_p.T60M|NEU4_uc002wcm.3_Missense_Mutation_p.T60M|NEU4_uc002wco.2_Missense_Mutation_p.T60M|NEU4_uc002wcn.2_Missense_Mutation_p.T72M	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	60						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGGAGGGGCACGCTGGCCGGG	0.746000														7			4		0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10866644	10866644	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:10866644C>T	uc002ras.3	+	2	255	c.146C>T	c.(145-147)tCc>tTc	p.S49F	ATP6V1C2_uc002rat.3_Missense_Mutation_p.S49F	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	49					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ACCTTGGATTCCCTGGTTGGC	0.458000														53			25		0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	233184	233184	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:233184G>A	uc001lok.4	-	2	539	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	SIRT3_uc001loj.4_Nonsense_Mutation_p.Q27*|SIRT3_uc010qvm.2_Nonsense_Mutation_p.Q105*|SIRT3_uc010qvn.2_Nonsense_Mutation_p.Q88*|SIRT3_uc010qvo.2_Nonsense_Mutation_p.Q169*|SIRT3_uc010qvp.2_Nonsense_Mutation_p.Q169*|SIRT3_uc010qvq.2_Nonsense_Mutation_p.Q27*|SIRT3_uc009ybt.1_Non-coding_Transcript	NM_012239	NP_001017524	Q9NTG7	SIRT3_HUMAN	Homo sapiens sirtuin 3 (SIRT3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	169	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TCGTACTGCTGGAGGTTGCTG	0.547000														55			22		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204128724	204128724	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:204128724C>T	uc001haq.2	-	5	537	c.493_splice	c.e5-1	p.V165_splice		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	165					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TTCCACCCACCTGTGGGAGGA	0.597000														46			11		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799452	5799452	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5799452G>A	uc010qzn.2	-	0	446	c.413C>T	c.(412-414)cCt>cTt	p.P138L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATAACGCAAAGGGTAGCAAAT	0.512000														77			48		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401558	11401558	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:11401558C>T	uc003gmq.3	-	1	395	c.72G>A	c.(70-72)gaG>gaA	p.E24E	HS3ST1_uc021xmg.1_Silent_p.E24E	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	24						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCTGGCCTAGCTCGGCGGGGC	0.706000														9			6		0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35797857	35797857	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:35797857C>T	uc002hnv.3	+	4	580	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F	TADA2A_uc002hnt.3_Missense_Mutation_p.L71F|TADA2A_uc002hnu.1_Missense_Mutation_p.L71F|TADA2A_uc002hnw.3_5'UTR	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	71	SANT.				histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTTTCCTGTCCTTGATCCCAG	0.458000														66			28		0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107923	45107923	+	Silent	SNP	G	A	A	rs34580302		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:45107923G>A	uc002zdk.3	+	12	1782	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E	RRP1B_uc002zdl.3_Silent_p.E89E	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	556					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCCCCGCAGAGGGGGCGAACA	0.667000														32			22		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481126	95481126	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:95481126C>T	uc010fhq.2	-	1	1254	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	708										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TCTTTCATTTCCTGTGTTTGC	0.363000														159			46		0	0	1	0	0
ART3	419	broad.mit.edu	37	4	77003191	77003191	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:77003191G>A	uc003hjo.3	+	2	418	c.284G>A	c.(283-285)gGa>gAa	p.G95E	ART3_uc003hji.3_Missense_Mutation_p.G95E|ART3_uc003hjj.3_Missense_Mutation_p.G95E|ART3_uc003hjk.3_Missense_Mutation_p.G95E|ART3_uc010ija.2_Missense_Mutation_p.G95E|ART3_uc003hjn.3_Missense_Mutation_p.G95E|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.G65E|ART3_uc010ijc.3_Missense_Mutation_p.G65E|ART3_uc010ijd.3_Missense_Mutation_p.G65E	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	95					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATAACCATGGAATAGCCCTG	0.438000														93			31		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921397	247921397	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:247921397G>A	uc010pza.2	-	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAAAAGAAACGAAGAAGAAGA	0.473000														53			43		0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7100290	7100290	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:7100290G>A	uc010vtn.2	-	7	949	c.689C>T	c.(688-690)tCc>tTc	p.S230F	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.S287F|DLG4_uc002get.4_Missense_Mutation_p.S333F|DLG4_uc010vto.2_Missense_Mutation_p.S330F	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	290	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GCGCCGAGGGGAAGTGGGGGT	0.617000														26			4		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56578824	56578824	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:56578824G>A	uc001skb.3	-	3	495	c.389C>T	c.(388-390)tCc>tTc	p.S130F	SMARCC2_uc001skd.3_Missense_Mutation_p.S130F|SMARCC2_uc001ska.3_Missense_Mutation_p.S130F|SMARCC2_uc001skc.3_Missense_Mutation_p.S130F|SMARCC2_uc010sqf.2_Missense_Mutation_p.S19F	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	130					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTGCACCAAGGACTTCTCAAT	0.428000														64			26		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907232	164907232	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:164907232G>A	uc003fej.4	-	1	1831	c.1387C>T	c.(1387-1389)Ctt>Ttt	p.L463F	SLITRK3_uc003fek.3_Missense_Mutation_p.L463F|SLITRK3_uc021xgy.1_Missense_Mutation_p.L463F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	463						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGCCATTAAGGAAGAGGCTC	0.443000										HNSCC(40;0.11)				49			23		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324797	152324797	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:152324797C>T	uc001ezw.4	-	2	5538	c.5465G>A	c.(5464-5466)cGa>cAa	p.R1822Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1822							calcium ion binding|structural molecule activity	p.R1822*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTCCTCGTGAGTGTGG	0.522000														313			129		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18321953	18321953	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:18321953G>A	uc010xqc.2	-	14	2405	c.1925C>T	c.(1924-1926)cCc>cTc	p.P642L	PDE4C_uc002nik.4_Missense_Mutation_p.P642L|PDE4C_uc002nil.4_Missense_Mutation_p.P642L|PDE4C_uc002nig.4_Missense_Mutation_p.P357L|PDE4C_uc002nih.4_Missense_Mutation_p.P412L|PDE4C_uc010ebk.3_Missense_Mutation_p.P536L|PDE4C_uc002nii.4_Missense_Mutation_p.P610L|PDE4C_uc002nif.4_Missense_Mutation_p.P411L|PDE4C_uc010ebl.3_Missense_Mutation_p.P356L	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	642					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GAGGTCTGAGGGACTTCGGGG	0.592000														88			23		0	0	1	0	0
CYB5D2	124936	broad.mit.edu	37	17	4047155	4047155	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:4047155C>T	uc002fxm.4	+	0	694	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	ZZEF1_uc002fxe.3_5'Flank|ZZEF1_uc002fxk.1_5'Flank|CYB5D2_uc002fxl.4_Intron|CYB5D2_uc010cko.3_Intron	NM_144611	NP_001241685	Q8WUJ1	NEUFC_HUMAN	Homo sapiens cytochrome b5 domain containing 2 (CYB5D2), transcript variant 1, mRNA.	36	Cytochrome b5 heme-binding.				nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						CGCTGGCTTTCGCCTTTTCAT	0.672000														47			23		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107626774	107626774	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:107626774G>A	uc003vev.2	-	3	691	c.530C>T	c.(529-531)tCg>tTg	p.S177L	LAMB1_uc003vew.2_Missense_Mutation_p.S153L|LAMB1_uc003vex.3_Missense_Mutation_p.S153L|LAMB1_uc010ljn.1_Missense_Mutation_p.S239L	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	153	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S153L(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGTCGGACGATCGTTCTAT	0.428000														76			30		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855638	12855638	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:12855638G>A	uc001auj.2	+	3	1021	c.918G>A	c.(916-918)ttG>ttA	p.L306L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	306										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTACCTATTGGAAGAAGACA	0.478000														46			51		0	0	1	0	0
AX747417	0	broad.mit.edu	37	3	95374490	95374490	+	RNA	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:95374490C>T	uc003dro.1	-	4		c.1372G>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		ATCTAATTATCTAATTATCAA	0.383000														34			11		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66932940	66932940	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:66932940G>A	uc001stk.3	-	3	577	c.336C>T	c.(334-336)ttC>ttT	p.F112F	GRIP1_uc010sta.1_Silent_p.F56F|GRIP1_uc001stm.3_Silent_p.F112F|GRIP1_uc001stl.1_Silent_p.F56F	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	112	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGTCATGGCGGAATTTGGCCA	0.483000														111			41		0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15495347	15495347	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:15495347G>A	uc003bzx.3	-	15	1413	c.1287C>T	c.(1285-1287)acC>acT	p.T429T	COLQ_uc003bzv.3_Silent_p.T419T|COLQ_uc010heo.3_Silent_p.T395T|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Silent_p.T288T	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	429					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CAGGGAGATAGGTCTCGCATG	0.557000														21			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076139	9076139	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9076139G>A	uc002mkp.3	-	2	11511	c.11307C>T	c.(11305-11307)atC>atT	p.I3769I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3770	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCTGGGCTGATCATGGTTT	0.527000														127			60		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721324	160721324	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:160721324C>T	uc003lys.1	-	10	1521	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	GABRB2_uc011deh.1_Missense_Mutation_p.D236N|GABRB2_uc003lyr.1_Missense_Mutation_p.D397N|GABRB2_uc003lyt.1_Missense_Mutation_p.D397N	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	435					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGGAGGCATCATAGGCTAGC	0.498000														73			29		0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207273196	207273196	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:207273196G>A	uc009xcd.3	+	6	1154	c.834G>A	c.(832-834)aaG>aaA	p.K278K	C4BPB_uc001hfi.3_Silent_p.K226K|C4BPB_uc001hfj.3_Silent_p.K227K|C4BPB_uc001hfl.3_Silent_p.K227K|C4BPB_uc001hfk.3_Silent_p.K226K|C4BPB_uc001hfm.3_Silent_p.K227K	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	227					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						AACAATTAAAGGAAAGTGGCA	0.393000														64			28		0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000														27			3		0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133650317	133650317	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:133650317T>A	uc003ytk.3	-	3	367	c.293A>T	c.(292-294)aAt>aTt	p.N98I	LRRC6_uc022bbp.1_Missense_Mutation_p.N98I|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	98						cytoplasm		p.V97V(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCCAATGAAATTCACAGTCAG	0.403000														59			19		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102302452	102302452	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:102302452G>A	uc001duf.2	-	1	330	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	OLFM3_uc001dug.2_Missense_Mutation_p.R67C|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	87						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGTAGTTGGCGAAGTTGCCTG	0.458000														80			53		0	0	1	0	0
CHIC2	26511	broad.mit.edu	37	4	54876273	54876273	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:54876273G>A	uc003haj.2	-	5	835	c.487C>T	c.(487-489)Cga>Tga	p.R163*	PDGFRA_uc003haa.3_Intron	NM_012110	NP_036242	Q9UKJ5	CHIC2_HUMAN	Homo sapiens cysteine-rich hydrophobic domain 2 (CHIC2), mRNA.	163						plasma membrane	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TAATCTGGTCGAAAAATCGGT	0.338000			T	ETV6	AML									30			13		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576937	28576937	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:28576937C>T	uc002kwj.4	-	14	2468	c.2313G>A	c.(2311-2313)atG>atA	p.M771I	DSC3_uc002kwi.4_Missense_Mutation_p.M771I	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	771					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTCCATTTTTCATTCCTGATC	0.443000														46			17		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48628176	48628176	+	Silent	SNP	C	T	T	rs146293806		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:48628176C>T	uc002ird.3	+	10	1422	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	SPATA20_uc002irc.3_Silent_p.L78L|SPATA20_uc002ire.3_Silent_p.L367L|SPATA20_uc002irf.3_Silent_p.L411L|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	411					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TTCAGCAGCTCCTCCCGGAGC	0.627000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		155			52		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43547663	43547663	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:43547663G>A	uc003tid.1	+	22	4404	c.3799G>A	c.(3799-3801)Gtg>Atg	p.V1267M	HECW1_uc011kbi.1_Missense_Mutation_p.V1233M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1267					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.E1267*(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTTCAATCAGGTGATGGCCTA	0.532000														41			18		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105510108	105510108	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:105510108G>A	uc003yma.3	-	4	799	c.672C>T	c.(670-672)tcC>tcT	p.S224S	LRP12_uc003ymb.3_Silent_p.S205S|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	224	LDL-receptor class A 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTAAAACGGGATAAACACT	0.448000														98			41		0	0	1	0	0
LUC7L2	51631	broad.mit.edu	37	7	139086975	139086975	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:139086975T>A	uc011kqt.2	+	4	780	c.546T>A	c.(544-546)agT>agA	p.S182R	LUC7L2_uc011kqs.2_Missense_Mutation_p.S113R|LUC7L2_uc003vuy.3_Missense_Mutation_p.S115R|LUC7L2_uc003vux.3_Missense_Mutation_p.S116R|LUC7L2_uc003vuz.1_Missense_Mutation_p.S63R|LUC7L2_uc003vva.3_Missense_Mutation_p.S63R	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	116							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					AAGAGATTAGTGCTGAAGTAG	0.328000														27			8		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119462855	119462855	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:119462855G>A	uc003ede.4	+	13	1791	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	C3orf15_uc010hqz.3_Missense_Mutation_p.E510K|C3orf15_uc011bjd.2_Missense_Mutation_p.E446K|C3orf15_uc011bje.2_Missense_Mutation_p.E552K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	408						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		GGCCGGACTGGAAGGAAGGGC	0.458000														57			22		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110790861	110790861	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:110790861C>A	uc003hzx.4	+	2	1014	c.821C>A	c.(820-822)tCt>tAt	p.S274Y	LRIT3_uc003hzw.4_Missense_Mutation_p.S136Y	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	274	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ACAGGCATTTCTTCCAAAGAC	0.433000														108			46		5.34276e-22	5.45867e-22	1	1	0
CDH4	1002	broad.mit.edu	37	20	60511877	60511877	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:60511877C>T	uc002ybn.2	+	15	2715	c.2627C>T	c.(2626-2628)aCc>aTc	p.T876I	CDH4_uc002ybr.2_Missense_Mutation_p.T839I|CDH4_uc002ybp.2_Missense_Mutation_p.T802I	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	876	Ser-rich.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCGGCTCCACCGCAGGCTCC	0.627000														34			12		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283829	159283829	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:159283829G>A	uc010piu.2	-	0	621	c.621C>T	c.(619-621)gtC>gtT	p.V207V		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V207V(2)|p.C206C(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTAGAACAAGGACACAGACGC	0.478000														121			39		0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64083425	64083425	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:64083425C>T	uc001nzq.1	+	6	1436	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	ESRRA_uc001nzr.1_Missense_Mutation_p.A419V|ESRRA_uc001nzs.1_Missense_Mutation_p.A420V|ESRRA_uc021qku.1_Non-coding_Transcript|PRDX5_uc001nzu.3_5'Flank|PRDX5_uc001nzv.3_5'Flank|PRDX5_uc001nzw.3_5'Flank	NM_004451	NP_004442	P11474	ERR1_HUMAN	Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA.	420	AF-2 domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.E419K(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						ATGCTCGAGGCCATGATGGAC	0.642000														50			12		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89861701	89861701	+	Silent	SNP	T	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:89861701T>A	uc010len.3	+	5	1742	c.1236T>A	c.(1234-1236)atT>atA	p.I412I	STEAP2_uc003uka.3_Silent_p.I412I|STEAP2_uc003ujz.3_Silent_p.I412I|STEAP2_uc003ukc.3_Intron|STEAP2_uc003ukb.3_Silent_p.I412I|STEAP2_uc003ukd.3_Silent_p.I412I	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	412					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATGTTTTAATTTATGGATGGA	0.378000														29			6		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007701	6007701	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:6007701G>A	uc001mcd.2	-	0	515	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGATGCAGGATTGTGGAA	0.507000														56			21		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53555537	53555537	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:53555537G>A	uc021onn.1	-	8	1641	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	SLC1A7_uc021onm.1_Silent_p.I360I|SLC1A7_uc001cux.3_Silent_p.I85I|SLC1A7_uc001cuy.3_Silent_p.I432I|SLC1A7_uc021ono.1_Intron	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	432						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	AGGTGAGCACGATGACCATGG	0.622000														82			28		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568863	49568863	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:49568863C>T	uc021wxz.1	+	2	1388	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	DAG1_uc021wya.1_Missense_Mutation_p.P307S|DAG1_uc021wyb.1_Missense_Mutation_p.P307S|DAG1_uc021wyc.1_Missense_Mutation_p.P307S|DAG1_uc021wyd.1_Missense_Mutation_p.P307S|DAG1_uc021wye.1_Missense_Mutation_p.P307S|DAG1_uc021wyf.1_Missense_Mutation_p.P307S|DAG1_uc021wyg.1_Missense_Mutation_p.P307S|DAG1_uc021wyh.1_Missense_Mutation_p.P307S|DAG1_uc021wyi.1_Missense_Mutation_p.P307S|DAG1_uc021wyj.1_Missense_Mutation_p.P307S|DAG1_uc021wyk.1_Missense_Mutation_p.P307S|DAG1_uc003cxc.4_Missense_Mutation_p.P307S	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	307	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCCCCCTCTTCCCAAACGCGT	0.617000														87			36		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9012839	9012839	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9012839C>T	uc002mkp.3	-	33	38809	c.38605G>A	c.(38605-38607)Gag>Aag	p.E12869K	MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12871	SEA 6.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCTCCTCGTACTGCAGG	0.582000														145			65		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53171482	53171482	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:53171482G>A	uc002xwy.3	+	1	297	c.77G>A	c.(76-78)cGa>cAa	p.R26Q		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	26	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATTTATCAGCGATGCTGGTTA	0.373000														30			15		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432554	10432554	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:10432554G>A	uc010coi.3	-	25	3407	c.3279C>T	c.(3277-3279)atC>atT	p.I1093I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I1093I|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1093					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAGATTGCTGATTTCAAACT	0.333000														41			23		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50769433	50769433	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:50769433G>A	uc002xwl.3	-	5	1647	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.S431F|ZFP64_uc002xwn.3_Missense_Mutation_p.S379F	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGCATGAAGGAGGCATCGCA	0.567000														67			21		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006032	22006032	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:22006032G>A	uc003xav.3	-	7	1577	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	LGI3_uc010ltu.3_Missense_Mutation_p.R406C	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	430					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.R430G(2)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGGCCGGCACGAAAGTGTTTC	0.632000														38			11		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658175	72658175	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:72658175G>A	uc003txs.1	-	12	1737	c.809C>T	c.(808-810)tCa>tTa	p.S270L	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		agcacagagtgatttcggatg	0.502000														106			58		0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36932730	36932730	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:36932730G>A	uc002xib.2	+	0	179	c.117G>A	c.(115-117)agG>agA	p.R39R		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	39					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCGTGGTCAGGATCTCCCAGA	0.632000														44			28		0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253616	134253616	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:134253616G>A	uc001qhq.3	-	3	840	c.579C>T	c.(577-579)ttC>ttT	p.F193F	B3GAT1_uc001qhr.3_Silent_p.F193F|B3GAT1_uc010scv.1_Silent_p.F206F	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	193					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTCGTCGGCGAAGTAGACCA	0.692000														4			8		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413826	61413826	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:61413826C>T	uc010qig.1	-	4	1407	c.958G>A	c.(958-960)Ggg>Agg	p.G320R		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	320					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGTGGAAACCCTCCGATGTCA	0.353000														57			26		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73721590	73721590	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:73721590C>T	uc010ttx.2	+	12	1654	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	PAPLN_uc001xnw.4_Silent_p.S470S|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.S497S	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	497	TSP type-1 5.					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)		CTCAGTGCTCCAAGAGCTGCA	0.677000														41			12		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3255043	3255043	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:3255043A>C	uc010uwu.2	+	0	797	c.797A>C	c.(796-798)cAc>cCc	p.H266P		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTGTCCTCCCACTCAGCTGAG	0.488000														123			56		0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212670	134212670	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:134212670C>T	uc001qhp.3	+	1	297	c.109C>T	c.(109-111)Cct>Tct	p.P37S		NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	37					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CACCCTGGTCCCTCTGCGGCT	0.632000														48			17		0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220284878	220284878	+	Splice_Site	SNP	G	A	A	rs59188358		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:220284878G>A	uc002vll.3	+	2	725	c.639_splice	c.e2+1	p.A213_splice		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	213	Coil 1B.|Rod.		A -> V (in MFM1; dbSNP:rs41272699).		cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTTCCGAGCGGTGAGTGCCCT	0.587000														59			21		0	0	1	0	0
IFT57	55081	broad.mit.edu	37	3	107885814	107885815	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:107885814_107885815GG>AA	uc021xcc.1	-	7	1013_1014	c.960_961CC>TT	c.(958-963)ctccat>ctTTat	p.H321Y	IFT57_uc003dwx.4_Missense_Mutation_p.H290Y	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	290					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			ATTTCATTATGGAGTTTGTCCA	0.342000														41			8		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72153752	72153752	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:72153752G>A	uc002fcc.4	-	19	3192	c.3020C>T	c.(3019-3021)cCg>cTg	p.P1007L	PMFBP1_uc002fcd.3_Missense_Mutation_p.P1002L|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.P877L	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	1007										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)				AGACGTACCCGGGCAGTGGGG	0.473000														65			22		0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73638359	73638359	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:73638359G>A	uc003uag.3	+	11	1010	c.460G>A	c.(460-462)Gag>Aag	p.E154K	LAT2_uc003uah.3_Missense_Mutation_p.E154K|LAT2_uc003uai.3_Missense_Mutation_p.E154K|LAT2_uc010lbo.3_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	154					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						TGCCCAGCAGGAGGGCATAGG	0.627000														37			12		0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150267668	150267668	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:150267668A>T	uc003qno.3	+	2	583	c.510A>T	c.(508-510)gaA>gaT	p.E170D	ULBP2_uc011eeh.1_Missense_Mutation_p.E170D|ULBP2_uc010kij.3_Missense_Mutation_p.E170D	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	170	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGATGAAAGAAAAGTGGGAGA	0.473000														158			50		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137237251	137237251	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:137237251T>C	uc003vtt.3	-	19	2012	c.2011A>G	c.(2011-2013)Act>Gct	p.T671A	DGKI_uc003vtu.3_Missense_Mutation_p.T371A	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	671					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GATTTGTAAGTTAGAAGCATG	0.517000														121			54		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55129947	55129947	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:55129947T>G	uc003han.4	+	3	812	c.481T>G	c.(481-483)Tta>Gta	p.L161V	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Missense_Mutation_p.L161V|PDGFRA_uc010igq.1_Missense_Mutation_p.L55V|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	161	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCTGTAACCTTACACAACAG	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				101			26		0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406387	39406387	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:39406387G>A	uc010fal.2	-	7	868	c.868C>T	c.(868-870)Caa>Taa	p.Q290*	CDKL4_uc002rrm.3_Nonsense_Mutation_p.Q290*	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	290						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGGGCCTCTTGAAAAGAATCA	0.403000														76			26		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946726	70946726	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:70946726G>A	uc001swb.4	-	18	4594	c.4564C>T	c.(4564-4566)Cgg>Tgg	p.R1522W	PTPRB_uc010sto.2_Missense_Mutation_p.R1432W|PTPRB_uc010stp.2_Missense_Mutation_p.R1432W|PTPRB_uc001swc.4_Missense_Mutation_p.R1740W|PTPRB_uc001swa.4_Missense_Mutation_p.R1652W	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1522	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGATACACCCGAATGGAGGCA	0.483000														116			47		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905934	5905934	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5905934C>T	uc010qzs.2	+	0	412	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCATGATCCTCACCAATAA	0.438000														103			29		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118537066	118537066	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:118537066A>C	uc001ehk.2	-	34	5209	c.5141T>G	c.(5140-5142)cTc>cGc	p.L1714R	SPAG17_uc021osr.1_Missense_Mutation_p.L224R	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1714						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTTGACCGGAGATTAGGAGG	0.423000														61			50		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696118	10696118	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:10696118C>T	uc002kos.2	-	42	6979	c.6805G>A	c.(6805-6807)Gga>Aga	p.G2269R	PIEZO2_uc002koq.3_Missense_Mutation_p.G124R	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2269						integral to membrane	ion channel activity										AAGTGAATTCCGAACACAAGA	0.502000														96			45		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756472	94756473	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:94756472_94756473GG>AA	uc001yct.3	-	1	924_925	c.458_459CC>TT	c.(457-459)tcc>tTT	p.S153F	SERPINA10_uc001ycu.4_Missense_Mutation_p.S153F	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	153					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCAGGTTGCGGGAGAGGGTCTC	0.520000														77			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501362	179501362	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:179501362C>T	uc021vsy.1	-	173	33613	c.33388G>A	c.(33388-33390)Gag>Aag	p.E11130K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E4825K|TTN_uc021vta.1_Missense_Mutation_p.E4758K|TTN_uc021vtb.1_Missense_Mutation_p.E4633K|TTN_uc010fre.1_Missense_Mutation_p.E991K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12057	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAACGAACTCTGATTCTGTC	0.458000														54			16		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156928857	156928857	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:156928857C>T	uc001fqo.3	-	14	2280	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	ARHGEF11_uc001fqn.3_Missense_Mutation_p.E454K|ARHGEF11_uc001fqp.1_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	414	RGSL.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.A413V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGATCTGCTCTTGGATCTCA	0.602000														39			18		0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68337239	68337239	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:68337239G>A	uc001onv.3	+	10	1419	c.1152G>A	c.(1150-1152)tgG>tgA	p.W384*	PPP6R3_uc001onw.3_Nonsense_Mutation_p.W384*|PPP6R3_uc001ony.4_Nonsense_Mutation_p.W384*|PPP6R3_uc001onx.3_Nonsense_Mutation_p.W384*|PPP6R3_uc009ysh.3_Nonsense_Mutation_p.W333*|PPP6R3_uc001onu.3_Nonsense_Mutation_p.W333*|PPP6R3_uc010rqc.2_Nonsense_Mutation_p.W152*|PPP6R3_uc010rqd.2_Nonsense_Mutation_p.W96*	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	384					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGTATACATGGAATAACTTTT	0.323000														46			66		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228470836	228470836	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:228470836G>A	uc009xez.1	+	31	8632	c.8588G>A	c.(8587-8589)aGg>aAg	p.R2863K	OBSCN_uc001hsn.3_Missense_Mutation_p.R2863K|OBSCN_uc001hsp.1_Missense_Mutation_p.R562K|OBSCN_uc001hsq.1_Missense_Mutation_p.R119K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2863	Ig-like 28.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.F2863V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAAGGACAGGAAGGCCATC	0.657000														5			3		0	0	1	0	0
BPGM	669	broad.mit.edu	37	7	134346437	134346437	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:134346437C>T	uc003vrv.3	+	2	719	c.178C>T	c.(178-180)Ctt>Ttt	p.L60F	BPGM_uc003vrw.3_Missense_Mutation_p.L60F	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	60					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CACATCTGTCCTTAATCGGTC	0.493000														40			14		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606407	139606407	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:139606407C>T	uc003yvd.3	-	62	4915	c.4468G>A	c.(4468-4470)Gcg>Acg	p.A1490T	COL22A1_uc011ljo.2_Missense_Mutation_p.A770T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1490	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1489P(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCATGTACGCCGGGGGCATC	0.597000										HNSCC(7;0.00092)				40			18		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004025	126004025	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:126004025G>A	uc001uhe.1	+	3	1140	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R	TMEM132B_uc021rgl.1_Missense_Mutation_p.G268R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	378						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTGGACTTTGGAATTGATAA	0.463000														76			32		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024554	16024554	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:16024554C>T	uc002nbu.2	-	12	1599	c.1563G>A	c.(1561-1563)gcG>gcA	p.A521A	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.A521A	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	521					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.A521V(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACTGTGAGTTCGCACCCAGGG	0.592000														25			8		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309461	38309461	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:38309461G>A	uc010gnb.3	-	4	1698	c.284C>T	c.(283-285)cCc>cTc	p.P95L	HLCS_uc021wjb.1_Missense_Mutation_p.P95L|HLCS_uc002yvs.3_Missense_Mutation_p.P95L|HLCS_uc010gnc.2_Missense_Mutation_p.P242L	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	95					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ATGCTCAACGGGGCCCCCTCC	0.547000														50			29		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65908912	65908912	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:65908912C>T	uc002jgf.3	+	10	4973	c.4912C>T	c.(4912-4914)Ccc>Tcc	p.P1638S	BPTF_uc002jge.3_Missense_Mutation_p.P1764S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1764					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTTTCCACACCCTCCACAGG	0.512000														56			22		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	31099465	31099465	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:31099465C>T	uc009yjk.1	-	5	658	c.589G>A	c.(589-591)Gga>Aga	p.G197R	DCDC5_uc009yjl.1_Missense_Mutation_p.G125R|DCDC5_uc001msu.2_Missense_Mutation_p.G368R	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GAGTCATCTCCACTATGTCTG	0.353000														20			13		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62462784	62462784	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:62462784C>T	uc001xfu.1	+	0	244	c.47C>T	c.(46-48)cCt>cTt	p.P16L	SYT16_uc010tsd.1_Missense_Mutation_p.P16L	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	16										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTCTTCCAGCCTTTCTCTTCC	0.463000														52			20		0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204022527	204022527	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:204022527A>G	uc002uzt.3	+	34	5939	c.5606A>G	c.(5605-5607)gAt>gGt	p.D1869G	NBEAL1_uc021vvj.1_Missense_Mutation_p.D572G	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1869							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCTGAAGAGGATATAACAGCT	0.333000														71			32		0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150569882	150569882	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:150569882G>A	uc003qnt.3	+	4	565	c.424_splice	c.e4-1	p.E142_splice		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	142					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TCTCTTTTAGGAATTTATCAA	0.383000														42			8		0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516963	192516963	+	Missense_Mutation	SNP	G	A	A	rs143060400	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:192516963G>A	uc011bsp.2	-	1	1009	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	230										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TACAACATGCGACTACTCCCT	0.473000														67			22		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360570	182360570	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:182360570G>A	uc002unu.3	+	13	2209	c.1446G>A	c.(1444-1446)acG>acA	p.T482T	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	482					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.R481K(1)|p.R481G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAATAGAACGAAATTTGACT	0.388000														103			38		0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79556066	79556066	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:79556066G>A	uc002kau.3	-	11	1367	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	NPLOC4_uc002kat.4_Silent_p.V395V|NPLOC4_uc010wur.1_Silent_p.V234V	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	395					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACTCATCACGGACCAGTGCCA	0.502000														63			20		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463190	26463190	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:26463190G>A	uc001isn.2	+	29	4357	c.3997G>A	c.(3997-3999)Gag>Aag	p.E1333K	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1333					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GACAGTCAAAGAGAGGCAAGT	0.502000														105			41		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198834	15198834	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:15198834G>A	uc010xoe.2	+	0	958	c.958G>A	c.(958-960)Gat>Aat	p.D320N		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						acagttattggatgtttatca	0.527000														29			9		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826270	22826270	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:22826270G>A	uc002dli.3	+	0	411	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	113						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GTACCAAGCGGTTGCCCCAAG	0.711000														10			10		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323881	79323881	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:79323881G>A	uc010mpk.3	-	7	3433	c.3309C>T	c.(3307-3309)aaC>aaT	p.N1103N	PRUNE2_uc022bih.1_Silent_p.N925N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1103					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGCCGGGAGTTGGTGCTGC	0.512000														65			45		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494144	220494144	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:220494144G>A	uc002vmo.4	+	4	704	c.495_splice	c.e4+1	p.K165_splice	SLC4A3_uc002vmn.2_Splice_Site_p.K165_splice|SLC4A3_uc002vmp.4_Splice_Site_p.K165_splice|SLC4A3_uc010fwm.3_Splice_Site|SLC4A3_uc010fwn.1_5'Flank	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	165					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGGCAAAGGTAGGGGCTTC	0.617000														19			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087373	9087373	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9087373G>A	uc002mkp.3	-	0	4646	c.4442C>T	c.(4441-4443)tCa>tTa	p.S1481L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1481	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCATGGGTGAACTTGGACT	0.433000														150			60		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39070699	39070699	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:39070699C>T	uc002oit.3	+	99	14572	c.14442C>T	c.(14440-14442)ctC>ctT	p.L4814L	RYR1_uc002oiu.3_Silent_p.L4809L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4814			L -> F (in CCD).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCCCATCTCCTGGACATCG	0.597000														75			37		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769019	57769019	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:57769019C>T	uc002yan.3	+	0	2945	c.2945C>T	c.(2944-2946)tCa>tTa	p.S982L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	982						intracellular	nucleic acid binding|zinc ion binding	p.G981V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTTGTTGGGTCAGGACTGGGG	0.637000														61			25		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171520703	171520703	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:171520703G>A	uc003mbo.1	-	8	1567	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	423							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCTACCTGAATTCTGGCA	0.627000														31			23		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2229562	2229562	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:2229562C>T	uc009zdu.1	+	2	756	c.443C>T	c.(442-444)cCa>cTa	p.P148L	CACNA1C_uc001qkc.2_Missense_Mutation_p.P148L|CACNA1C_uc001qjz.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkd.2_Missense_Mutation_p.P148L|CACNA1C_uc001qke.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkf.2_Missense_Mutation_p.P148L|CACNA1C_uc009zdw.1_Missense_Mutation_p.P148L|CACNA1C_uc001qkg.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkh.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkl.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkj.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkk.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkn.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkm.2_Missense_Mutation_p.P148L|CACNA1C_uc001qko.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkp.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkq.2_Missense_Mutation_p.P148L|CACNA1C_uc001qku.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkr.2_Missense_Mutation_p.P148L|CACNA1C_uc001qks.2_Missense_Mutation_p.P148L|CACNA1C_uc001qkt.2_Missense_Mutation_p.P148L|CACNA1C_uc009zdv.1_Missense_Mutation_p.P148L|CACNA1C_uc001qkb.2_Missense_Mutation_p.P148L|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc009zdx.1_Non-coding_Transcript	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	148					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATTCCCTTTCCAGAAGATGAT	0.413000														104			40		0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16601311	16601311	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:16601311C>T	uc002ned.2	-	2	327	c.264G>A	c.(262-264)ggG>ggA	p.G88G	MED26_uc002nee.2_Intron	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	88	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CCAGAGTTTTCCCTTTATTGC	0.438000														117			46		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560390	44560390	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:44560390C>T	uc002lcr.1	-	0	1599	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	416					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.E416K(2)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCTTGGATTCGTTTGCTTTC	0.507000														80			34		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429708	135429708	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:135429708G>A	uc004ezu.1	+	5	4134	c.3843G>A	c.(3841-3843)aaG>aaA	p.K1281K	GPR112_uc010nsb.1_Silent_p.K1076K|GPR112_uc010nsc.1_Silent_p.K1048K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1281					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCCCATCAAAGAATTCTTTTA	0.433000														52			30		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228403470	228403470	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:228403470G>A	uc009xez.1	+	5	2079	c.2035G>A	c.(2035-2037)Ggg>Agg	p.G679R	OBSCN_uc001hsn.3_Missense_Mutation_p.G679R|AK056556_uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	679	Ig-like 6.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCTGCACGGGGCGCAGCT	0.652000														18			5		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894515	151894515	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:151894515G>A	uc003qol.3	+	5	1070	c.981G>A	c.(979-981)agG>agA	p.R327R		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	327																	TCTCATTTAGGGAGAAAATCG	0.488000														49			19		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153735242	153735242	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:153735242C>T	uc009wom.3	+	15	1776	c.1555C>T	c.(1555-1557)Cat>Tat	p.H519Y	INTS3_uc001fct.3_Missense_Mutation_p.H519Y|INTS3_uc001fcu.3_Missense_Mutation_p.H211Y|INTS3_uc001fcv.3_Missense_Mutation_p.H313Y|INTS3_uc010peb.2_Missense_Mutation_p.H313Y|INTS3_uc001fcw.3_Missense_Mutation_p.H32Y|INTS3_uc010pec.2_Missense_Mutation_p.H32Y	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	520					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATGGACAACCATATGTCGGA	0.478000														55			11		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954741	70954741	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:70954741C>T	uc002ezr.3	-	45	7686	c.7535G>A	c.(7534-7536)aGa>aAa	p.R2512K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2513										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)				caggcgctctctctcccGGTC	0.711000														9			10		0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73406578	73406578	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:73406578C>T	uc001xng.3	+	2	381	c.161C>T	c.(160-162)tCg>tTg	p.S54L	DCAF4_uc010ttr.2_Missense_Mutation_p.R43C|DCAF4_uc001xnj.3_Missense_Mutation_p.S54L|DCAF4_uc001xnh.3_5'UTR|DCAF4_uc010tts.2_Missense_Mutation_p.S54L|DCAF4_uc010ttt.2_5'UTR|DCAF4_uc001xni.3_Missense_Mutation_p.S54L|DCAF4_uc001xnk.3_Missense_Mutation_p.S54L	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	54						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCGTCAACCTCGTCTGGCACA	0.622000														10			9		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67553656	67553656	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:67553656C>T	uc002aqo.2	+	1	195	c.98C>T	c.(97-99)tCa>tTa	p.S33L	IQCH_uc010ujv.2_5'UTR|IQCH_uc002aqn.2_5'UTR|IQCH_uc002aqp.2_5'UTR|IQCH_uc002aqq.2_5'UTR|IQCH_uc002aqm.3_Missense_Mutation_p.S33L	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	33				S -> T (in Ref. 1; AAK27307).						NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACAAAATTCTCACCTGAGGAA	0.328000														84			35		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033738	228033738	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:228033738C>T	uc001hrh.3	+	4	810	c.810C>T	c.(808-810)tcC>tcT	p.S270S		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	270	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGGCTGCTCCAACCCTCTGT	0.537000														53			18		0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37702335	37702335	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:37702335G>A	uc003xkk.3	-	3	1063	c.933C>T	c.(931-933)gcC>gcT	p.A311A		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	311					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CATCCCGAAAGGCAGAGCGGA	0.582000														59			19		0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788312	68788312	+	Missense_Mutation	SNP	G	A	A	rs138970524		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:68788312G>A	uc021xag.1	-	4	818	c.325C>T	c.(325-327)Ccg>Tcg	p.P109S	FAM19A4_uc021xah.1_Missense_Mutation_p.P109S	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	109						extracellular region		p.P109S(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCCAAACACGGATTCATGTGA	0.408000														106			37		0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37692835	37692835	+	Silent	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:37692835C>T	uc003xkj.3	+	11	2138	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	584					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CACCTGAGCCCGAGCCCCCAG	0.682000														30			15		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579069	44579069	+	Silent	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:44579069G>A	uc003tlb.3	-	1	983	c.927C>T	c.(925-927)ccC>ccT	p.P309P	NPC1L1_uc011kbw.2_Silent_p.P309P|NPC1L1_uc003tlc.3_Silent_p.P309P|NPC1L1_uc003tld.3_Silent_p.P309P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	309					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGTCCCTGGCGGGGGCCACAC	0.597000														92			37		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395143	115395143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:115395143G>A	uc003ebr.2	+	2	1096	c.422G>A	c.(421-423)gGa>gAa	p.G141E	GAP43_uc003ebq.2_Missense_Mutation_p.G105E	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	105					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGCAAAGCAGGAGAAACTCCT	0.637000														37			25		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643801	121643801	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:121643801C>T	uc003eep.2	+	12	1198	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	SLC15A2_uc011bjn.1_Missense_Mutation_p.P318S	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	349					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGTTCTAAATCCCCTTCTGGT	0.393000														138			40		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169612443	169612443	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:169612443G>A	uc011cjx.2	+	8	1712	c.1501_splice	c.e8+1	p.E501_splice	PALLD_uc003iru.3_Splice_Site_p.E501_splice|PALLD_uc003irv.3_Splice_Site_p.E119_splice	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	501	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGCTGAACCTGGTAAGAATAT	0.338000									Pancreatic Cancer, Familial Clustering of					30			13		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385329	108385333	+	Frame_Shift_Del	DEL	TCCCT	-	-			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:108385329_108385333delTCCCT	uc001pkk.3	-	5	1012_1016	c.901_905delAGGGA	c.(901-906)agggagfs	p.R301fs	EXPH5_uc010rvz.2_Frame_Shift_Del_p.R145fs|EXPH5_uc010rvy.2_Frame_Shift_Del_p.R113fs	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	301					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GACTCTGGGCTCCCTTGTCCTATAC	0.429													---	42	---	---	26	---					
FAM216B	144809	broad.mit.edu	37	13	43362867	43362881	+	In_Frame_Del	DEL	CCTGTATCTGTGGTT	-	-			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:43362867_43362881delCCTGTATCTGTGGTT	uc010tfk.2	+	3	484_498	c.361_375delCCTGTATCTGTGGTT	c.(361-375)cctgtatctgtggttdel	p.PVSVV121del	FAM216B_uc010tfl.2_In_Frame_Del_p.PVSVV121del	NM_182508	NP_872314	Q8N7L0	CM030_HUMAN	Homo sapiens chromosome 13 open reading frame 30 (C13orf30), mRNA.	121																	ATCAGTACTACCTGTATCTGTGGTTCTACCTAGGG	0.474													---	71	---	---	12	---					
GOLGA6L9	440295	broad.mit.edu	37	15	85786211	85786211	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:85786211delG	uc010upj.1	+	2	252	c.187delG	c.(187-189)gggfs	p.G63fs	AK301968_uc010upk.1_5'Flank	NM_198181	NP_937824	A6NEM1	GG6L9_HUMAN	Homo sapiens golgin A6 family-like 9 (GOLGA6L9), mRNA.	75																	AGGTATCTACGGGGAGGGCCG	0.587													---	4	---	---	2	---					
CYB5B	80777	broad.mit.edu	37	16	69493023	69493027	+	Splice_Site	DEL	AGGTT	-	-			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:69493023_69493027delAGGTT	uc002exg.1	+	4	451	c.362_splice	c.e4+1	p.S121_splice		NM_030579	NP_085056	O43169	CYB5B_HUMAN	Homo sapiens cytochrome b5 type B (outer mitochondrial membrane) (CYB5B), nuclear gene encoding mitochondrial protein, mRNA.	117					electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				TACATGCAAAAGGTTAGTATCTCCT	0.302													---	68	---	---	19	---					
KDSR	2531	broad.mit.edu	37	18	61018162	61018163	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:61018162_61018163insG	uc010dpw.3	-	5	722_723	c.567_568insC	c.(565-570)tccaagfs	p.S189fs	KDSR_uc010xem.2_Intron	NM_002035	NP_002026	Q06136	KDSR_HUMAN	Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.	189					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						ATGGCAAACTTGGATGCAGAGT	0.480													---	142	---	---	68	---					
LOC100131094	100131094	broad.mit.edu	37	19	4682879	4682880	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:4682879_4682880delAG	uc021ung.1	+	1	325_326	c.9_10delAG	c.(7-12)gcagagfs	p.A3fs	DPP9_uc002mba.3_Intron	NM_001242901	NP_001229830			Homo sapiens uncharacterized LOC100131094 (LOC100131094), mRNA.																		AGATGGGGGCAGAGAGAGAGAG	0.663													---	4	---	---	3	---