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
TPTE	7179	broad.mit.edu	37	21	10951354	10951354	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:10951354G>T	uc002yip.1	-	9	726	c.358C>A	c.(358-360)Ctt>Att	p.L120I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.L102I|TPTE_uc002yir.1_Missense_Mutation_p.L82I|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	120					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)		GGAATATAAAGTTTGCTGTCA	0.323000														137			15		2.39187e-15	4.69606e-15	0.001216	1	0
IRAK1	3654	broad.mit.edu	37	X	153282490	153282490	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:153282490G>A	uc004fjs.1	-	7	1017	c.938C>T	c.(937-939)cCt>cTt	p.P313L	IRAK1_uc004fjr.1_Missense_Mutation_p.P313L|IRAK1_uc004fjt.1_Missense_Mutation_p.P313L|IRAK1_uc004fju.2_Missense_Mutation_p.P339L	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	313	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTCGCTGAGGCCAGGAGAG	0.597000														6			49		0	0	0.003610	0	0
C7orf42	55069	broad.mit.edu	37	7	66416045	66416045	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:66416045C>T	uc003tvk.3	+	4	967	c.703C>T	c.(703-705)Cct>Tct	p.P235S	C7orf42_uc010lah.3_Intron	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	235						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						AGATTACAATCCTTTCTGGTG	0.443000														80			26		0	0	0.003954	0	0
SCN11A	11280	broad.mit.edu	37	3	38951679	38951679	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:38951679C>T	uc021wvy.1	-	7	1178	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	327					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGCTTACATTCATATTGTATG	0.383000														38			9		0	0	0.004482	0	0
FAM98C	147965	broad.mit.edu	37	19	38893805	38893805	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:38893805G>A	uc002oin.1	+	0	31	c.12G>A	c.(10-12)gtG>gtA	p.V4V	FAM98C_uc002oio.1_Silent_p.V4V|FAM98C_uc010xtz.1_Silent_p.V4V	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	4										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGGCGGTGAAGGCGGAAG	0.726000														29			6		0	0	0.003080	0	0
TPD52L1	7164	broad.mit.edu	37	6	125550371	125550371	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:125550371G>A	uc003pzu.1	+	2	462	c.243G>A	c.(241-243)caG>caA	p.Q81Q	TPD52L1_uc003pzv.1_Silent_p.Q81Q|TPD52L1_uc003pzw.1_Silent_p.Q81Q|TPD52L1_uc003pzx.1_Silent_p.Q52Q|TPD52L1_uc003pzy.1_Silent_p.Q52Q|TPD52L1_uc003pzz.1_Silent_p.Q52Q	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	81					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AATTAAAACAGAACTTCAGCA	0.388000														25			22		0	0	0.002780	0	0
CYB5RL	606495	broad.mit.edu	37	1	54649919	54649919	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:54649919A>G	uc009vzo.3	-	5	775	c.455T>C	c.(454-456)aTg>aCg	p.M152T	CYB5RL_uc001cww.3_5'UTR|CYB5RL_uc001cwy.4_Missense_Mutation_p.M4T|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	152	FAD-binding FR-type.						cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						ATACCGGGACATCAGCCCCAT	0.522000														16			11		0	0	0.001368	0	0
BEND6	221336	broad.mit.edu	37	6	56882132	56882132	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:56882132C>T	uc010kab.3	+	4	1233	c.647C>T	c.(646-648)tCc>tTc	p.S216F	BEND6_uc003pdi.4_Missense_Mutation_p.S118F	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	216	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GGGGCAAAATCCTCTACTTCA	0.373000														30			21		0	0	0.001523	0	0
AZU1	566	broad.mit.edu	37	19	830878	830878	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:830878G>A	uc002lpz.1	+	3	547	c.531G>A	c.(529-531)gaG>gaA	p.E177E		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	177	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGACCCCCGAGGACCAGTGTC	0.667000														30			18		0	0	0.002299	0	0
HCAR2	338442	broad.mit.edu	37	12	123187120	123187121	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:123187120_123187121GG>AA	uc001ucx.1	-	0	784_785	c.710_711CC>TT	c.(709-711)gcc>gTT	p.A237V	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	237					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CAAAGACGATGGCCACCACCAT	0.545000														39			16		0	0	0.004672	0	0
LAMP5	24141	broad.mit.edu	37	20	9498814	9498814	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:9498814G>A	uc002wni.2	+	4	1098	c.603G>A	c.(601-603)atG>atA	p.M201I	LAMP5_uc010zrc.2_Missense_Mutation_p.M157I	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	201						integral to membrane		p.M201fs*33(1)									CGGTCACCATGATCCTGTCTG	0.498000														37			28		0	0	0.001061	0	0
PNPLA6	10908	broad.mit.edu	37	19	7616319	7616319	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:7616319C>T	uc010xjq.2	+	19	2523	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	PNPLA6_uc002mgq.2_Silent_p.F713F|PNPLA6_uc010xjp.2_Silent_p.F687F|PNPLA6_uc002mgr.2_Silent_p.F713F|PNPLA6_uc002mgs.3_Silent_p.F752F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	752					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGGACCCTTCCCAGGTGAGA	0.602000														46			17		0	0	0.006122	0	0
DIP2B	57609	broad.mit.edu	37	12	51108324	51108324	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:51108324C>T	uc001rwv.3	+	22	2952	c.2796C>T	c.(2794-2796)ctC>ctT	p.L932L	DIP2B_uc009zlt.3_Silent_p.L362L	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	932						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GCAACATCCTCATGTGCCCCC	0.463000														27			33		0	0	0.002836	0	0
C3	718	broad.mit.edu	37	19	6714368	6714368	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:6714368G>A	uc002mfm.3	-	4	656	c.594C>T	c.(592-594)ctC>ctT	p.L198L		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	198					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CATACTTGACGAGTTCCGGAA	0.617000														43			26		0	0	0.001271	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032553	43032553	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:43032553G>A	uc003gwt.3	+	3	870	c.869G>A	c.(868-870)gGt>gAt	p.G290D		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	290					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AACTGTGCTGGTTAATTGGAG	0.348000														76			38		0	0	0.001951	0	0
PHKA1	5255	broad.mit.edu	37	X	71887293	71887293	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:71887293G>A	uc004eax.4	-	6	950	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	PHKA1_uc004eay.4_Silent_p.L217L|PHKA1_uc011mqi.2_Silent_p.L217L	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	217					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACACCAAACAGATCCAGTTCA	0.403000														1			7		0	0	0.001984	0	0
TTLL11	158135	broad.mit.edu	37	9	124752024	124752024	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:124752024G>A	uc011lyl.2	-	3	1177	c.989C>T	c.(988-990)cCc>cTc	p.P330L	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Missense_Mutation_p.P7L|TTLL11_uc004blt.1_Missense_Mutation_p.P330L|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	330	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CTTCCAGGAGGGGTCATCGTC	0.507000														16			85		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141243011	141243011	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:141243011C>G	uc002tvj.1	-	58	10298	c.9326G>C	c.(9325-9327)aGa>aCa	p.R3109T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3109					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R3109I(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCAATGATTCTTTTTTCTGT	0.408000										TSP Lung(27;0.18)				29			13		0	0	0.001855	0	0
NLRP5	126206	broad.mit.edu	37	19	56539845	56539845	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:56539845C>T	uc002qmj.3	+	6	2246	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F	NLRP5_uc002qmi.3_Missense_Mutation_p.S730F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	749						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGAGATGAGTCCGCTGAGGCA	0.522000														155			109		0	0	0.003610	0	0
KDM3B	51780	broad.mit.edu	37	5	137761238	137761238	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:137761238C>T	uc003lcy.1	+	16	4578	c.4378C>T	c.(4378-4380)Cgg>Tgg	p.R1460W	KDM3B_uc010jew.1_Missense_Mutation_p.R1116W|KDM3B_uc011cys.1_Missense_Mutation_p.R492W	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1460					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGTGAAAGTTCGGGATTTCTG	0.443000														7			48		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179599320	179599320	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179599320G>A	uc021vsy.1	-	48	11724	c.11499C>T	c.(11497-11499)ttC>ttT	p.F3833F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F494F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4760							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S3833*(1)		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)			GAGTTTTGATGAAAGAAGGAG	0.378000														39			67		0	0	0.003610	0	0
SHANK2	22941	broad.mit.edu	37	11	70331436	70331436	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:70331436G>A	uc001oqc.3	-	20	4876	c.4764C>T	c.(4762-4764)tcC>tcT	p.S1588S	SHANK2_uc010rqn.2_Silent_p.S1064S|SHANK2_uc001opz.3_Silent_p.S1059S|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.	1275					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)			CGAGGCTGGCGGACTTGGCTC	0.562000														35			27		0	0	0.001512	0	0
LOC646214	646214	broad.mit.edu	37	15	21936795	21936795	+	RNA	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:21936795T>G	uc010tzj.1	-	0		c.3945A>C								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CCTCAAGGGATTTTCATTGAG	0.448000														131			5		0	0	0.001984	0	0
UNC13C	440279	broad.mit.edu	37	15	54306263	54306263	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:54306263A>G	uc021smr.1	+	0	1163	c.1163A>G	c.(1162-1164)gAt>gGt	p.D388G	UNC13C_uc021sms.1_Missense_Mutation_p.D388G	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	388					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAACAAAGGGATTCTGTCTTA	0.383000														57			19		0	0	0.000958	0	0
FRMD4B	23150	broad.mit.edu	37	3	69336967	69336967	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:69336967G>A	uc003dnv.2	-	4	727	c.437C>T	c.(436-438)tCg>tTg	p.S146L	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnx.1_Missense_Mutation_p.S92L|FRMD4B_uc003dny.3_Missense_Mutation_p.S146L	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	146	FERM.					cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTTTAAAAACGATATGCTCTC	0.438000														9			11		0	0	0.001855	0	0
SLC29A4	222962	broad.mit.edu	37	7	5331409	5331409	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:5331409C>T	uc003sod.3	+	4	662	c.501C>T	c.(499-501)gcC>gcT	p.A167A	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.A167A|SLC29A4_uc003soe.3_Missense_Mutation_p.P155L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	167					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		AGGCCTACGCCATCAACCTGG	0.642000														92			25		0	0	0.001271	0	0
LLGL2	3993	broad.mit.edu	37	17	73539582	73539582	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:73539582G>A	uc002joh.3	+	2	229	c.75_splice	c.e2+1	p.K25_splice	LLGL2_uc002jog.1_Splice_Site_p.K25_splice|LLGL2_uc010dgf.1_Splice_Site_p.K25_splice|LLGL2_uc002joi.3_Splice_Site_p.K25_splice|LLGL2_uc010dgg.2_Splice_Site_p.K25_splice	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	25					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTTTAACAAGgtaagttagg	0.567000														35			21		0	0	0.001523	0	0
DGKD	8527	broad.mit.edu	37	2	234356786	234356786	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:234356786C>T	uc002vui.1	+	12	1485	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	DGKD_uc002vuj.1_Silent_p.I447I|DGKD_uc010fyh.1_Silent_p.I358I|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	491					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTTCTAAAATCCTCACCTCGG	0.592000														44			25		0	0	0.001271	0	0
SPATA22	84690	broad.mit.edu	37	17	3372601	3372601	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:3372601C>T	uc002fvm.3	-	1	257	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	SPATA22_uc010vrg.2_Missense_Mutation_p.E7K|SPATA22_uc010vrf.2_Missense_Mutation_p.E7K|SPATA22_uc002fvo.3_Missense_Mutation_p.E7K|SPATA22_uc002fvn.3_Missense_Mutation_p.E7K|SPATA22_uc002fvp.3_Missense_Mutation_p.E7K|SPATA22_uc010ckf.3_Missense_Mutation_p.E7K	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	7										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GCTGAATTTTCATTTAGGCTT	0.289000														9			4		0	0	0.001984	0	0
WARS2	10352	broad.mit.edu	37	1	119575949	119575949	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:119575949G>A	uc001ehn.3	-	5	696	c.668C>T	c.(667-669)cCt>cTt	p.P223L	WARS2_uc010oxf.2_Missense_Mutation_p.P129L|WARS2_uc001ehm.3_3'UTR|WARS2_uc010oxg.2_Missense_Mutation_p.P166L|WARS2_uc010oxh.2_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	223					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTTGGCAGAAGGATCACGTAG	0.438000														123			39		0	0	0.001706	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570498	61570498	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:61570498A>C	uc010xeu.2	+	8	1540	c.1207A>C	c.(1207-1209)Acc>Ccc	p.T403P	SERPINB2_uc002ljo.3_Missense_Mutation_p.T403P|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	403					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCATAAGATAACCAACTGCAT	0.433000														66			43		0	0	0.002852	0	0
MED12L	116931	broad.mit.edu	37	3	151134120	151134120	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:151134120C>T	uc003eyp.3	+	40	6342	c.6213C>T	c.(6211-6213)ccC>ccT	p.P2071P	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2071	Gln-rich.				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)			cccagcagccccagccccagc	0.547000														26			13		0	0	0.001368	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47626919	47626919	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:47626919C>T	uc002xtx.4	+	26	3887	c.3735C>T	c.(3733-3735)ttC>ttT	p.F1245F	ARFGEF2_uc010zyf.2_Silent_p.F538F	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1245					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGCTGGCCTTCCAGACCACTT	0.517000														35			36		0	0	0.001706	0	0
TMEM106B	54664	broad.mit.edu	37	7	12269310	12269310	+	Silent	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:12269310A>T	uc011jxk.2	+	5	847	c.447A>T	c.(445-447)acA>acT	p.T149T	TMEM106B_uc003ssh.3_Silent_p.T149T	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	Homo sapiens transmembrane protein 106B (TMEM106B), transcript variant 1, mRNA.	149						integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTAGAACACACTAAATATAA	0.289000														41			18		0	0	0.004990	0	0
FAT1	2195	broad.mit.edu	37	4	187541874	187541874	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:187541874C>T	uc003izf.3	-	9	6054	c.5866G>A	c.(5866-5868)Gat>Aat	p.D1956N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1956	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATCTGCCATCGGAAGCTCTA	0.453000										HNSCC(5;0.00058)				95			41		0	0	0.001287	0	0
TENC1	23371	broad.mit.edu	37	12	53455629	53455629	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:53455629G>T	uc001sbp.3	+	21	3614	c.3479G>T	c.(3478-3480)gGg>gTg	p.G1160V	TENC1_uc001sbl.3_Missense_Mutation_p.G1036V|TENC1_uc001sbn.3_Missense_Mutation_p.G1170V|TENC1_uc001sbq.3_Missense_Mutation_p.G558V|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Missense_Mutation_p.G655V	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	1160	SH2.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AAGGACCCTGGGGCCTTCCTG	0.627000														139			7		0.00198382	0.00385954	0.001984	1	0
ZNF208	7757	broad.mit.edu	37	19	22156615	22156615	+	Silent	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:22156615A>G	uc021urr.1	-	3	1370	c.1221T>C	c.(1219-1221)agT>agC	p.S407S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGAACATACTAAAACCTT	0.398000														44			7		0	0	0.003080	0	0
X06774	0	broad.mit.edu	37	7	38370227	38370227	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:38370227C>G	uc010kxj.1	-	1	207	c.71G>C	c.(70-72)gGg>gCg	p.G24A	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		CTTTGTTCTCCCTTCCAAGTT	0.433000														63			15		0	0	0.002450	0	0
FAM65C	140876	broad.mit.edu	37	20	49224959	49224959	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:49224959C>T	uc010zyt.2	-	10	1174	c.923G>A	c.(922-924)gGt>gAt	p.G308D	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.G304D|FAM65C_uc002xvn.1_Missense_Mutation_p.G304D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	304										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGATGGTACCCAACTCCGT	0.667000														50			38		0	0	0.004878	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604630	58604630	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:58604630C>T	uc001nnd.4	-	4	465	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	GLYATL2_uc009ymq.3_Missense_Mutation_p.E112K	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	112						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CTTATTGCTTCATCCAAGCCC	0.398000														34			34		0	0	0.003271	0	0
PML	5371	broad.mit.edu	37	15	74290542	74290542	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:74290542C>T	uc002awv.3	+	1	467	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PML_uc002awj.1_Silent_p.F109F|PML_uc002awm.3_Silent_p.F109F|PML_uc002awl.3_Silent_p.F109F|PML_uc002awk.3_Silent_p.F109F|PML_uc002awn.3_Silent_p.F109F|PML_uc002awo.3_Silent_p.F109F|PML_uc002awp.3_Silent_p.F109F|PML_uc002awq.3_Silent_p.F109F|PML_uc002awr.3_Silent_p.F109F|PML_uc002aws.3_Silent_p.F109F|PML_uc002awt.3_Silent_p.F109F|PML_uc002awu.3_Silent_p.F109F|PML_uc010ule.2_Intron|PML_uc002aww.1_Silent_p.F24F	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	109					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACGTCTTTTTCGAGAGTCTGC	0.632000			T	"""RARA, PAX5"""	"""APL, ALL"""									29			38		0	0	0.001287	0	0
NEU2	4759	broad.mit.edu	37	2	233899345	233899345	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:233899345C>T	uc010zmn.2	+	1	721	c.721C>T	c.(721-723)Cga>Tga	p.R241*		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	241							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		AAGCCACCTCCGAGCCAGGGT	0.662000														9			15		0	0	0.006122	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732618	37732618	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:37732618G>A	uc003xkm.2	-	2	1093	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.P346L|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.P194L	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	346					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAAGCCCTTGGGGGATGGGGA	0.552000														259			171		0	0	0.003610	0	0
EPS8L3	79574	broad.mit.edu	37	1	110300637	110300637	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:110300637C>T	uc001dyr.2	-	8	986	c.761G>A	c.(760-762)gGa>gAa	p.G254E	EPS8L3_uc001dys.2_Missense_Mutation_p.G254E|EPS8L3_uc001dyq.2_Missense_Mutation_p.G255E|EPS8L3_uc009wfm.2_Missense_Mutation_p.G221E|EPS8L3_uc009wfn.2_Missense_Mutation_p.G229E|EPS8L3_uc009wfo.2_Missense_Mutation_p.G201E	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	254						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)		CTCCAGCTTTCCCATGAACAG	0.547000														93			36		0	0	0.002522	0	0
PCSK9	255738	broad.mit.edu	37	1	55518010	55518010	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:55518010G>A	uc001cyf.2	+	3	945	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	195	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGACCACCGGGAAATCGAGGG	0.592000														136			173		0	0	0.003610	0	0
ENOX1	55068	broad.mit.edu	37	13	43872620	43872620	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:43872620G>A	uc001uza.4	-	11	1608	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	ENOX1_uc001uzc.4_Silent_p.L436L|ENOX1_uc001uzb.4_Silent_p.L436L	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	436					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTGCCAGCGGAGACTGTCAT	0.522000														74			26		0	0	0.002096	0	0
TTN	7273	broad.mit.edu	37	2	179577460	179577460	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179577460C>T	uc021vsy.1	-	90	23785	c.23560G>A	c.(23560-23562)Ggc>Agc	p.G7854S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4515S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8781	Ig-like 61.						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)			GAAGCCTTGCCAGCTTCATTG	0.378000														34			52		0	0	0.003610	0	0
CPNE4	131034	broad.mit.edu	37	3	131261456	131261456	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:131261456C>T	uc011blq.2	-	14	1648	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	CPNE4_uc003eok.3_Missense_Mutation_p.G495E|CPNE4_uc003eol.3_Missense_Mutation_p.G513E|CPNE4_uc003eom.3_Missense_Mutation_p.G495E|CPNE4_uc003eoj.3_Missense_Mutation_p.G46E	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	495										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AACAGGCTCTCCCTTGGGTGA	0.517000														31			48		0	0	0.003610	0	0
GLIS3	169792	broad.mit.edu	37	9	4286116	4286116	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:4286116C>T	uc003zhx.1	-	1	1023	c.310G>A	c.(310-312)Gga>Aga	p.G104R	GLIS3_uc003zic.1_Missense_Mutation_p.G104R|GLIS3_uc003zie.1_Missense_Mutation_p.G104R|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Missense_Mutation_p.G104R	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	336	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GACATGCCTCCAGCCTGGGTG	0.532000														39			34		0	0	0.004289	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71163193	71163193	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:71163193C>T	uc002shj.3	+	0	196	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	ATP6V1B1_uc002shi.1_Missense_Mutation_p.P37S	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	37					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CATCACCCACCCCCGTGTCAG	0.657000														38			18		0	0	0.001523	0	0
NEXN	91624	broad.mit.edu	37	1	78399027	78399027	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:78399027G>A	uc001dic.4	+	9	1411	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	NEXN_uc001dia.3_Missense_Mutation_p.G358R|NEXN_uc009wcb.1_Missense_Mutation_p.G294R|NEXN_uc001dib.4_Missense_Mutation_p.G308R|NEXN_uc001did.1_Missense_Mutation_p.G282R|NEXN_uc001dif.1_Missense_Mutation_p.G264R|NEXN_uc001dig.4_Missense_Mutation_p.G13R	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	372	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TCTTACACCGGGAAAACTGGA	0.333000														30			8		0	0	0.003080	0	0
SPHK2	56848	broad.mit.edu	37	19	49132208	49132208	+	Silent	SNP	C	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:49132208C>G	uc002pjw.3	+	4	2026	c.1329C>G	c.(1327-1329)gcC>gcG	p.A443A	SPHK2_uc010xzt.2_Silent_p.A322A|SPHK2_uc002pjt.3_Silent_p.A175A|SPHK2_uc002pjr.3_Silent_p.A381A|SPHK2_uc002pjs.3_Silent_p.A381A|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.A345A	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	381					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ACCTCCCCGCCACTGTGGAAC	0.692000														26			31		0	0	0.002836	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834823	27834823	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:27834823G>A	uc003njx.3	-	0	537	c.485C>T	c.(484-486)cCc>cTc	p.P162L		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	162					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AGCCGCCGCGGGCTTCTTCGC	0.597000														152			56		0	0	0.003610	0	0
DENND2A	27147	broad.mit.edu	37	7	140301799	140301799	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:140301799C>T	uc010lnk.3	-	2	919	c.399G>A	c.(397-399)cgG>cgA	p.R133R	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.R133R|DENND2A_uc003vvw.3_Silent_p.R133R|DENND2A_uc003vvx.3_Silent_p.R133R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	133										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GATCCACTTCCCGTTCTGGCT	0.592000														208			60		0	0	0.003610	0	0
OR5H6	79295	broad.mit.edu	37	3	97983330	97983330	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:97983330G>A	uc003dsi.1	+	0	202	c.202G>A	c.(202-204)Gac>Aac	p.D68N		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATCTGGAAAGACCCTCACCT	0.423000														76			129		0	0	0.003610	0	0
RPF2	84154	broad.mit.edu	37	6	111346629	111346629	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:111346629C>T	uc003pun.3	+	9	784	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RPF2_uc003puo.3_Silent_p.S192S	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	Homo sapiens ribosome production factor 2 homolog (S. cerevisiae) (RPF2), mRNA.	255						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AAAATATTTCCCATGATACTT	0.348000														4			39		0	0	0.001706	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282464	28282464	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:28282464C>T	uc001bpg.3	+	6	1067	c.876C>T	c.(874-876)gtC>gtT	p.V292V	SMPDL3B_uc001bpf.3_Silent_p.V292V|SMPDL3B_uc010ofq.2_Silent_p.V86V|SMPDL3B_uc010ofr.2_Silent_p.V244V	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	292					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGACAGGTGTCCCCATAAGCG	0.567000														29			8		0	0	0.000443	0	0
ECE2	9718	broad.mit.edu	37	3	184009924	184009924	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:184009924C>T	uc003fni.4	+	18	2588	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	ECE2_uc003fnl.4_Silent_p.F778F|ECE2_uc003fnm.4_Silent_p.F732F|ECE2_uc003fnk.4_Silent_p.F703F	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	850	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)			CTGCCCGCTTCCGCGTGCTGG	0.682000														39			13		0	0	0.002450	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933534	209933534	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:209933534G>A	uc001hho.3	+	2	570	c.150G>A	c.(148-150)agG>agA	p.R50R	TRAF3IP3_uc001hhm.2_Silent_p.R50R|TRAF3IP3_uc001hhn.3_Silent_p.R50R|TRAF3IP3_uc009xcr.3_Silent_p.R50R	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	50						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGACGCTGAGGATCCAACAGA	0.602000														47			10		0	0	0.000443	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657765	20657765	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:20657765C>T	uc001ytg.3	-	15	2213	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.G502R|HERC2P3_uc010tyy.2_Missense_Mutation_p.G502R|HERC2P3_uc010tyz.1_3'UTR					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGCTCGGTCCCGATGGGTTC	0.532000														33			9		0	0	0.000443	0	0
ESCO1	114799	broad.mit.edu	37	18	19116057	19116057	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:19116057G>A	uc002kth.1	-	9	3067	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	711					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CATTGGAAATGAAGAGAAGTG	0.363000														131			36		0	0	0.001485	0	0
MYO18A	399687	broad.mit.edu	37	17	27442392	27442392	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:27442392G>A	uc002hdt.1	-	12	2453	c.2295C>T	c.(2293-2295)acC>acT	p.T765T	MYO18A_uc010wbc.1_Silent_p.T307T|MYO18A_uc002hds.2_Silent_p.T307T|MYO18A_uc010csa.1_Silent_p.T765T|MYO18A_uc002hdu.1_Silent_p.T765T|MYO18A_uc010wbd.1_Silent_p.T434T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	765	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGACGAGAAGGGTGAAGAGCT	0.612000														13			27		0	0	0.002096	0	0
NEB	4703	broad.mit.edu	37	2	152515621	152515621	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:152515621G>A	uc021vrb.1	-	44	6062	c.6033C>T	c.(6031-6033)ccC>ccT	p.P2011P	NEB_uc002txu.3_Silent_p.P2011P|NEB_uc021vrc.1_Silent_p.P2011P|NEB_uc010fnx.3_Silent_p.P2011P|NEB_uc021vrd.1_Silent_p.P2011P	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2011					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATAATCTGGGGGATATCAG	0.378000														140			78		0	0	0.003610	0	0
ADCY10	55811	broad.mit.edu	37	1	167791329	167791329	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:167791329C>T	uc001ger.3	-	29	4517	c.4219G>A	c.(4219-4221)Gaa>Aaa	p.E1407K	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.E1254K|ADCY10_uc009wvk.3_Missense_Mutation_p.E1315K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1407					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGTTGTTTTCGTATTGGTGT	0.393000														83			11		0	0	0.000978	0	0
PYGM	5837	broad.mit.edu	37	11	64522189	64522189	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:64522189C>T	uc001oax.4	-	7	1792	c.975G>A	c.(973-975)acG>acA	p.T325T	PYGM_uc001oay.4_Silent_p.T237T	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	325					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)	CATCGAAGTTCGTGCGCACGG	0.607000														13			12		0	0	0.003163	0	0
CCDC141	285025	broad.mit.edu	37	2	179742822	179742822	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179742822G>A	uc002une.2	-	11	1886	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	CCDC141_uc002ung.3_Missense_Mutation_p.P590S|CCDC141_uc002unf.1_Missense_Mutation_p.P69S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	15							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCTTCTGAGGGATTTCGGTT	0.348000														19			43		0	0	0.003610	0	0
C3orf15	89876	broad.mit.edu	37	3	119462915	119462915	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:119462915G>A	uc003ede.4	+	13	1851	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	C3orf15_uc010hqz.3_Missense_Mutation_p.E530K|C3orf15_uc011bjd.2_Missense_Mutation_p.E466K|C3orf15_uc011bje.2_Missense_Mutation_p.E572K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	428						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)		GAGACTGCAGGAGGAGAGGAG	0.562000														61			34		0	0	0.005524	0	0
MUC16	94025	broad.mit.edu	37	19	9066420	9066420	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9066420G>A	uc002mkp.3	-	2	21230	c.21026C>T	c.(21025-21027)tCc>tTc	p.S7009F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7011	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						TGTTCTTGTGGATATTTCTGG	0.517000														194			144		0	0	0.003610	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671908	39671908	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:39671908C>T	uc021wjc.1	+	0	725	c.725C>T	c.(724-726)tCc>tTc	p.S242F	KCNJ15_uc002ywv.3_Missense_Mutation_p.S242F|KCNJ15_uc002yww.3_Missense_Mutation_p.S242F|KCNJ15_uc002ywx.3_Missense_Mutation_p.S242F	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	242					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						GTGGACTCCTCCTCTGAGAGC	0.567000														43			17		0	0	0.001523	0	0
OR2M5	127059	broad.mit.edu	37	1	248309245	248309245	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248309245C>T	uc010pze.2	+	0	796	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CACATCTGATCGCTCCCCTAT	0.522000														183			37		0	0	0.004289	0	0
PACRGL	133015	broad.mit.edu	37	4	20714489	20714489	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:20714489C>T	uc010iei.1	+	7	835	c.589C>T	c.(589-591)Cct>Tct	p.P197S	PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Missense_Mutation_p.P149S|PACRGL_uc011bxm.2_Missense_Mutation_p.P96S|PACRGL_uc003gqa.3_Intron|PACRGL_uc010iek.3_Missense_Mutation_p.P149S|PACRGL_uc010iej.1_Non-coding_Transcript|PACRGL_uc011bxn.2_Intron	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	149							binding			endometrium(2)|lung(7)|prostate(1)	10						CAAAGGTGCTCCTGAAAAAGC	0.383000														134			59		0	0	0.003610	0	0
GSDMA	284110	broad.mit.edu	37	17	38122577	38122577	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:38122577G>A	uc002htl.1	+	2	397	c.279G>A	c.(277-279)gtG>gtA	p.V93V	GSDMA_uc002htm.1_Silent_p.V93V	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	93					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						AGGGAGATGTGGATGTACCAA	0.562000														37			72		0	0	0.003610	0	0
DCAF17	80067	broad.mit.edu	37	2	172306462	172306462	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:172306462C>T	uc002ugx.3	+	4	859	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Missense_Mutation_p.R178W	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	178						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AGCAGTGGCCCGGCAGGTATA	0.348000														45			11		0	0	0.001368	0	0
TMPPE	643853	broad.mit.edu	37	3	33135202	33135202	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:33135202G>A	uc003cfk.2	-	1	698	c.486C>T	c.(484-486)ctC>ctT	p.L162L	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.L25L|TMPPE_uc021wux.1_Silent_p.L162L	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	162						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GCCTGAGCACGAGCTTCCTTG	0.627000														14			14		0	0	0.004007	0	0
COBLL1	22837	broad.mit.edu	37	2	165551195	165551195	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:165551195C>T	uc002ucp.3	-	11	3043	c.2821G>A	c.(2821-2823)Gag>Aag	p.E941K	COBLL1_uc002ucq.3_Missense_Mutation_p.E903K|COBLL1_uc010zcw.2_Missense_Mutation_p.E1008K|COBLL1_uc010zcx.2_Missense_Mutation_p.E949K|COBLL1_uc002ucn.3_Missense_Mutation_p.E369K|COBLL1_uc002uco.3_Missense_Mutation_p.E672K	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	979										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTTTCTGCCTCTTTATTTGTC	0.473000														32			17		0	0	0.001216	0	0
C1orf106	55765	broad.mit.edu	37	1	200869277	200869277	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:200869277G>A	uc001gvo.3	+	3	523	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	C1orf106_uc010ppm.2_Missense_Mutation_p.E76K	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	161										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CAAACCAGGGGAAAAGGCCCC	0.617000														32			15		0	0	0.003163	0	0
SLC25A20	788	broad.mit.edu	37	3	48897041	48897041	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:48897041C>T	uc003cva.4	-	5	754	c.555G>A	c.(553-555)atG>atA	p.M185I	SLC25A20_uc011bbw.2_Missense_Mutation_p.M135I	NM_000387	NP_000378	O43772	MCAT_HUMAN	Homo sapiens solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20), nuclear gene encoding mitochondrial protein, mRNA.	185					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TCATGAAATACATTCCACTAG	0.438000														78			38		0	0	0.001485	0	0
RHOA	387	broad.mit.edu	37	3	49400013	49400013	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:49400013G>A	uc003cwu.3	-	3	600	c.324C>T	c.(322-324)ccC>ccT	p.P108P	RHOA_uc010hku.3_Silent_p.P27P	NM_001664	NP_001655	P61586	RHOA_HUMAN	Homo sapiens ras homolog gene family, member A (RHOA), mRNA.	108					Rho protein signal transduction|axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of axonogenesis|positive regulation of neuron differentiation|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TGGGCACGTTGGGACAGAAAT	0.458000														31			53		0	0	0.003610	0	0
FBXW5	54461	broad.mit.edu	37	9	139836504	139836504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:139836504G>A	uc004cjx.3	-	5	1274	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*	FBXW5_uc010nbx.3_Non-coding_Transcript|FBXW5_uc004cjy.3_Nonsense_Mutation_p.Q112*|FBXW5_uc004cjz.3_Intron	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	Homo sapiens F-box and WD repeat domain containing 5 (FBXW5), mRNA.	364							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTACCGATCTGGTGTGGGGAG	0.667000														16			6		0	0	0.001168	0	0
CAPN12	147968	broad.mit.edu	37	19	39229232	39229232	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:39229232G>A	uc002ojd.1	-	5	1095	c.786C>T	c.(784-786)tcC>tcT	p.S262S	CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	262	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGCCCGTGATGGAATACGCGT	0.627000														51			13		0	0	0.002450	0	0
SHANK1	50944	broad.mit.edu	37	19	51165652	51165652	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:51165652G>A	uc002psx.1	-	22	6075	c.6056C>T	c.(6055-6057)tCc>tTc	p.S2019F	SHANK1_uc002psw.1_Missense_Mutation_p.S1403F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2019					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GATGGGCAGGGACGAGGGCCT	0.716000														16			12		0	0	0.000978	0	0
SERPINB3	6317	broad.mit.edu	37	18	61304983	61304983	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:61304983G>A	uc002ljf.3	-	7	1229	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	SERPINB3_uc002lje.3_Silent_p.I360I|SERPINB3_uc002ljg.3_Silent_p.I381I	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	381					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CATAGAAGAGGATGCTGTTGG	0.393000														89			62		0	0	0.003610	0	0
SEPT12	124404	broad.mit.edu	37	16	4834003	4834003	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:4834003G>A	uc002cxq.3	-	4	705	c.441C>T	c.(439-441)atC>atT	p.I147I	SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	147					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GCTGGCGGGTGATGAGGATCT	0.632000														77			23		0	0	0.001061	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079874	70079874	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:70079874G>A	uc003heh.3	-	0	576	c.567C>T	c.(565-567)ttC>ttT	p.F189F	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	189					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGAAGGAGGGAAAATCAGTC	0.403000														55			36		0	0	0.003271	0	0
OR6T1	219874	broad.mit.edu	37	11	123814103	123814103	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:123814103G>A	uc010sab.2	-	0	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCTAGCCAGGAGGCCAGCAC	0.557000														18			23		0	0	0.001882	0	0
VGLL3	389136	broad.mit.edu	37	3	86996211	86996211	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:86996211T>G	uc003dqn.3	-	3	1308	c.944A>C	c.(943-945)cAg>cCg	p.Q315P		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTCTTGATGCTGTAGACCTGG	0.368000														35			15		0	0	0.002450	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626705	108626705	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:108626705C>T	uc002tdv.3	+	8	1407	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	SLC5A7_uc010ywm.2_Silent_p.I130I|SLC5A7_uc010fjj.3_Silent_p.I377I|SLC5A7_uc010ywn.2_Silent_p.I264I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	377					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACAAAGAAATCGTTTGGGTTA	0.443000														44			16		0	0	0.006122	0	0
ARHGAP32	9743	broad.mit.edu	37	11	129034227	129034227	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:129034227G>A	uc009zcp.3	-	1	212	c.212C>T	c.(211-213)aCt>aTt	p.T71I	ARHGAP32_uc009zcq.2_Missense_Mutation_p.T31I	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	71					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGCGCTAAGAGTTTCTTCCCA	0.358000														3			5		0	0	0.001168	0	0
TMEM200A	114801	broad.mit.edu	37	6	130763021	130763021	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:130763021G>A	uc003qcb.3	+	1	3832	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	TMEM200A_uc003qca.3_Missense_Mutation_p.G485E|TMEM200A_uc010kfh.3_Missense_Mutation_p.G485E|TMEM200A_uc010kfi.3_Missense_Mutation_p.G485E|TMEM200A_uc021zfg.1_Missense_Mutation_p.G485E	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	485						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTAAAGAGGGGAACTTCTGAA	0.299000														1			28		0	0	0.001512	0	0
C9orf84	158401	broad.mit.edu	37	9	114518610	114518610	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:114518610T>C	uc004bfr.3	-	5	800	c.665A>G	c.(664-666)gAa>gGa	p.E222G	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.E286G|C9orf84_uc004bfq.3_Missense_Mutation_p.E183G|C9orf84_uc010mug.3_Missense_Mutation_p.E168G	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	222										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTCACCTCTTTCAAAAAGCTT	0.299000														11			19		0	0	0.002299	0	0
CAMK4	814	broad.mit.edu	37	5	110820014	110820014	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:110820014G>A	uc003kpf.3	+	10	1507	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G	CAMK4_uc010jbv.3_Silent_p.G227G|CAMK4_uc003kpg.3_Silent_p.G115G	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	424					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGAGGATGGGATAAAGGTGG	0.537000														22			27		0	0	0.001061	0	0
PTPRE	5791	broad.mit.edu	37	10	129861433	129861433	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:129861433G>A	uc009yat.3	+	10	1162	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	PTPRE_uc001lkb.3_Missense_Mutation_p.E238K|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Missense_Mutation_p.E238K|PTPRE_uc001lkd.3_Missense_Mutation_p.E180K|PTPRE_uc010quq.1_Missense_Mutation_p.E139K	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	238	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AAACTTGAAAGAAAGGAAAGA	0.498000														2			25		0	0	0.001271	0	0
PAM	5066	broad.mit.edu	37	5	102310054	102310054	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:102310054C>T	uc003knt.3	+	13	1770	c.1397C>T	c.(1396-1398)tCt>tTt	p.S466F	PAM_uc003knw.3_Missense_Mutation_p.S466F|PAM_uc003kns.3_Intron|PAM_uc003knu.3_Missense_Mutation_p.S466F|PAM_uc011cuz.2_Missense_Mutation_p.S369F|PAM_uc003knv.3_Missense_Mutation_p.S466F|PAM_uc003knx.1_Intron|PAM_uc003kny.1_Non-coding_Transcript	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	466	Peptidylglycine alpha-hydroxylating monooxygenase (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)	AGACTAGTATCTACCTTGAGG	0.502000														57			19		0	0	0.000958	0	0
DCST2	127579	broad.mit.edu	37	1	155005649	155005649	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:155005649G>A	uc001fgm.3	-	1	440	c.360C>T	c.(358-360)agC>agT	p.S120S	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	120						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTACAGCCTCGCTGGCCCGGG	0.622000														17			10		0	0	0.000443	0	0
CRISP2	7180	broad.mit.edu	37	6	49666136	49666136	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:49666136A>T	uc003ozn.2	-	6	592	c.356T>A	c.(355-357)cTa>cAa	p.L119Q	CRISP2_uc003ozr.2_Missense_Mutation_p.L119Q|CRISP2_uc003ozo.2_Missense_Mutation_p.L119Q|CRISP2_uc003ozm.2_Missense_Mutation_p.L119Q|CRISP2_uc003ozp.2_Missense_Mutation_p.L119Q|CRISP2_uc003ozq.2_Missense_Mutation_p.L119Q|CRISP2_uc003ozl.2_Missense_Mutation_p.L119Q	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	119						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GACAAAATCTAGGATCTCGTC	0.418000														66			20		0	0	0.001523	0	0
KIAA1109	84162	broad.mit.edu	37	4	123171625	123171625	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:123171625C>T	uc003ieh.3	+	34	5864	c.5819C>T	c.(5818-5820)cCa>cTa	p.P1940L	KIAA1109_uc003iek.2_Missense_Mutation_p.P559L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1940					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTGATTCTCCAACCGGCAGT	0.413000														39			37		0	0	0.001287	0	0
LAGE3	8270	broad.mit.edu	37	X	153706298	153706298	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:153706298G>A	uc004fln.1	-	2	759	c.417C>T	c.(415-417)ccC>ccT	p.P139P		NM_006014	NP_006005	Q14657	LAGE3_HUMAN	Homo sapiens L antigen family, member 3 (LAGE3), mRNA.	139							protein binding			lung(2)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGAAACGGGGGGCCCAAAGC	0.597000														2			7		0	0	0.000673	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38340576	38340576	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:38340576A>T	uc010cwu.1	+	2	582	c.92A>T	c.(91-93)gAa>gTa	p.E31V		NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	237	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CTTCAAGAGGAAGAGGGGGCC	0.602000														106			32		0	0	0.004289	0	0
ZFHX3	463	broad.mit.edu	37	16	72992171	72992171	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:72992171G>A	uc002fck.3	-	1	2547	c.1874C>T	c.(1873-1875)tCc>tTc	p.S625F	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	625					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCGCAGAGGGAGCCAGCGTG	0.632000														12			25		0	0	0.003330	0	0
LPAR1	1902	broad.mit.edu	37	9	113703936	113703936	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:113703936C>T	uc011lwo.2	-	1	563	c.561G>A	c.(559-561)tgG>tgA	p.W187*	LPAR1_uc004bfa.3_Nonsense_Mutation_p.W186*|LPAR1_uc011lwm.2_Nonsense_Mutation_p.W187*|LPAR1_uc004bfc.3_Nonsense_Mutation_p.W186*|LPAR1_uc011lwn.2_Nonsense_Mutation_p.W168*|LPAR1_uc004bfb.3_Nonsense_Mutation_p.W186*|LPAR1_uc010mub.3_Nonsense_Mutation_p.W186*	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	186					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGATACAGTTCCAGCCCACAC	0.498000														7			52		0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104033936	104033936	+	Silent	SNP	C	T	T	rs144975292		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:104033936C>T	uc001tjw.3	+	8	1128	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	314					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	p.F314F(2)		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						ACCAGAATTTCGTACCTGGAG	0.448000														54			20		0	0	0.002299	0	0
ASTN1	460	broad.mit.edu	37	1	176998789	176998790	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:176998789_176998790CC>TT	uc001glc.3	-	4	1312_1313	c.1100_1101GG>AA	c.(1099-1101)agg>aAA	p.R367K	ASTN1_uc001glb.1_Missense_Mutation_p.R367K|ASTN1_uc001gld.1_Missense_Mutation_p.R367K|ASTN1_uc009wwx.1_Missense_Mutation_p.R367K|ASTN1_uc001gle.4_Non-coding_Transcript|MIR488_uc021pfc.1_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	367					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						GCCTCCTGCTCCTTGAAGGATC	0.550000														50			5		0	0	0.004672	0	0
NEURL3	93082	broad.mit.edu	37	2	97166168	97166168	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:97166168C>T	uc010yuo.2	-	1	593	c.522G>A	c.(520-522)gcG>gcA	p.A174A	NEURL3_uc010fhx.3_Intron|NEURL3_uc002swc.3_Intron					Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA.																		TCCCCATGGTCGCCTCACCCA	0.662000														12			5		0	0	0.001984	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146597	42146597	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:42146597G>T	uc003orx.3	+	4	1054	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Missense_Mutation_p.D137Y	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	137	EF-hand 4.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGAGTTCACCGATACAGTGTT	0.612000														139			24		3.28513e-13	6.44326e-13	0.003954	1	0
GRXCR2	643226	broad.mit.edu	37	5	145246199	145246199	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:145246199C>T	uc003lns.1	-	1	429	c.429G>A	c.(427-429)agG>agA	p.R143R		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	143										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGAGAATTTTCCTCACAAAAT	0.428000														9			52		0	0	0.003610	0	0
LAMB4	22798	broad.mit.edu	37	7	107669562	107669562	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:107669562C>T	uc010ljo.1	-	32	5156	c.5072G>A	c.(5071-5073)gGa>gAa	p.G1691E	LAMB4_uc003vey.2_Missense_Mutation_p.G1691E|LAMB4_uc010ljp.1_Missense_Mutation_p.G660E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1691	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTAACTTTTCCTAATGTCTC	0.388000														41			40		0	0	0.001951	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586595	15586595	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:15586595G>A	uc002nbg.3	-	1	1019	c.886C>T	c.(886-888)Ctc>Ttc	p.L296F	PGLYRP2_uc002nbf.4_Missense_Mutation_p.L296F	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	296					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AAGTGGCTGAGGGATGGCCGG	0.622000														31			28		0	0	0.001512	0	0
YES1	7525	broad.mit.edu	37	18	736817	736817	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:736817C>T	uc002kky.3	-	9	1503	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T	YES1_uc002kkz.3_Missense_Mutation_p.A428T	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	428	Protein kinase.				T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CCTTGTCTTGCTGTGTATTCA	0.348000														55			11		0	0	0.000978	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189528	92189528	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:92189528G>A	uc001xzs.1	-	3	314	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	58					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)				AGAAACACTGGATTTTCTTTA	0.348000														5			14		0	0	0.001855	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981924	51981924	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:51981924C>T	uc002pwv.1	+	1	211	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	71						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGATGGAGCCTGTGGAGGAG	0.627000														30			20		0	0	0.001523	0	0
ZNF572	137209	broad.mit.edu	37	8	125989574	125989574	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:125989574C>T	uc003yrr.3	+	2	1219	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	355					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)			GGAGAGAAATCCTATGAAAGT	0.378000										HNSCC(60;0.17)				54			8		0	0	0.000443	0	0
NEFH	4744	broad.mit.edu	37	22	29885294	29885294	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:29885294G>A	uc003afo.3	+	3	1736	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K	KIAA0845_uc003afp.3_Intron	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	555	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament		p.A554A(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CTCCAGCAAAGGAAGAGGCAA	0.572000														6			34		0	0	0.004878	0	0
FREM1	158326	broad.mit.edu	37	9	14805029	14805030	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:14805029_14805030GG>AA	uc003zlm.3	-	19	4211_4212	c.3395_3396CC>TT	c.(3394-3396)tcc>tTT	p.S1132F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1132					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTATCTCCAAGGAGTGATGCTT	0.416000														51			43		0	0	0.004672	0	0
CACNG6	59285	broad.mit.edu	37	19	54515427	54515427	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:54515427G>A	uc002qct.3	+	3	1357	c.767G>A	c.(766-768)gGg>gAg	p.G256E	CACNG6_uc002qcu.3_Missense_Mutation_p.G210E|CACNG6_uc002qcv.3_Missense_Mutation_p.G185E	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	256						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCCAAGCGGGGGCACCGGGCC	0.642000														110			30		0	0	0.002445	0	0
GPR158	57512	broad.mit.edu	37	10	25887370	25887370	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:25887370A>G	uc001isj.3	+	10	2875	c.2815A>G	c.(2815-2817)Aaa>Gaa	p.K939E	GPR158_uc001isk.3_Missense_Mutation_p.K314E	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	939						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCAAAAGATAAAGAGACAAA	0.453000														14			99		0	0	0.003610	0	0
ABLIM3	22885	broad.mit.edu	37	5	148617116	148617116	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:148617116C>T	uc003lpy.2	+	10	1245	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	ABLIM3_uc003lpz.1_Missense_Mutation_p.H332Y|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.H332Y|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	332					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGAGCCTCATTCCAGATA	0.493000														68			45		0	0	0.003610	0	0
OR6T1	219874	broad.mit.edu	37	11	123814492	123814492	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:123814492G>A	uc010sab.2	-	0	54	c.54C>T	c.(52-54)ccC>ccT	p.P18P		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGTGGCTACTGGGGAAACCCA	0.478000														80			33		0	0	0.003271	0	0
RGPD3	653489	broad.mit.edu	37	2	107049690	107049690	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:107049690C>T	uc010ywi.1	-	15	2314	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	753					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTTCGAGTTCCTGCATGACT	0.368000														223			34		0	0	0.001485	0	0
USH2A	7399	broad.mit.edu	37	1	215848206	215848206	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:215848206G>A	uc001hku.1	-	62	13434	c.13047C>T	c.(13045-13047)atC>atT	p.I4349I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4349	Fibronectin type-III 28.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAGAGTTGTGATGCTGGTGG	0.512000										HNSCC(13;0.011)				19			63		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179569401	179569401	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179569401G>A	uc021vsy.1	-	101	26291	c.26066C>T	c.(26065-26067)tCg>tTg	p.S8689L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5350L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9616	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S8689L(1)		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)			TTTGTACCACGAAAGCTTGAT	0.338000														18			11		0	0	0.000673	0	0
WNT10A	80326	broad.mit.edu	37	2	219746919	219746919	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:219746919C>T	uc002vjd.1	+	1	613	c.150C>T	c.(148-150)ccC>ccT	p.P50P		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	50					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCGCCTCCCCCCGGAGCCCG	0.607000														26			11		0	0	0.000673	0	0
SRRM2	23524	broad.mit.edu	37	16	2815820	2815820	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:2815820C>T	uc002crk.3	+	10	5840	c.5291C>T	c.(5290-5292)tCg>tTg	p.S1764L	SRRM2_uc002crj.1_Missense_Mutation_p.S1668L|SRRM2_uc002crl.1_Missense_Mutation_p.S1764L|SRRM2_uc010bsu.1_Missense_Mutation_p.S1668L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1764	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCTCTCCTTCGCCAAAGCCT	0.572000														38			20		0	0	0.003330	0	0
TLL1	7092	broad.mit.edu	37	4	166996071	166996071	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:166996071G>A	uc003irh.2	+	16	2877	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	TLL1_uc011cjn.2_Missense_Mutation_p.E767K|TLL1_uc011cjo.2_Missense_Mutation_p.E568K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	744	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGTCAGCACGAATGTGTCAA	0.393000														29			48		0	0	0.003610	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280807	105280807	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:105280807G>A	uc010npd.3	-	0	478	c.243C>T	c.(241-243)tcC>tcT	p.S81S	SERPINA7_uc004eme.2_Silent_p.S81S|SERPINA7_uc010npe.2_Silent_p.S81S	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	81					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGGCCCCAAAGGAAAGCATAA	0.498000														2			19		0	0	0.000958	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439881	150439881	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:150439881C>T	uc022apw.1	+	5	1406	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	GIMAP1-GIMAP5_uc003whr.2_Silent_p.F218F	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		AGGGCTCCTTCCACAGCAATG	0.602000														72			25		0	0	0.004656	0	0
IL27	246778	broad.mit.edu	37	16	28515112	28515112	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:28515112C>T	uc002dqc.3	-	2	230	c.207G>A	c.(205-207)gcG>gcA	p.A69A	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	69					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GGTGAGATTCCGCCTGGGGGG	0.632000														22			11		0	0	0.001368	0	0
SPANXN4	441525	broad.mit.edu	37	X	142121938	142121938	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:142121938A>T	uc004fbv.4	+	1	303	c.206A>T	c.(205-207)aAt>aTt	p.N69I		NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN	Homo sapiens SPANX family, member N4 (SPANXN4), mRNA.	69										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGGAGAATAACCAGCCT	0.408000														0			3		0	0	0.000248	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132584	59132584	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:59132584C>T	uc010rks.2	+	0	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATCATGATATCCTATGGCTAT	0.423000														78			39		0	0	0.002222	0	0
CXCR2	3579	broad.mit.edu	37	2	219000488	219000488	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:219000488C>T	uc002vgz.2	+	3	1174	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	CXCR2_uc002vha.2_Missense_Mutation_p.R322C|CXCR2_uc002vhb.2_Missense_Mutation_p.R322C|CXCR2_uc021vwp.1_Missense_Mutation_p.R322C	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGAAGTTTCGCCATGGACT	0.547000														65			24		0	0	0.001061	0	0
MAEL	84944	broad.mit.edu	37	1	166985495	166985495	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:166985495T>G	uc001gdy.1	+	8	953	c.882T>G	c.(880-882)tgT>tgG	p.C294W	MAEL_uc021peh.1_Missense_Mutation_p.C238W|MAEL_uc001gdz.1_Missense_Mutation_p.C263W|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	294					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TTCTCTTCTGTGCTTTAGCTG	0.348000														109			20		0	0	0.003330	0	0
ANP32C	23520	broad.mit.edu	37	4	165118308	165118309	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:165118308_165118309CC>TT	uc011cjk.2	-	0	555_556	c.555_556GG>AA	c.(553-558)gaggag>gaAAag	p.E186K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	186	Asp/Glu-rich (highly acidic).									NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		tcctcgccctcctcatcttccA	0.550000														11			7		0	0	0.004672	0	0
PDE4A	5141	broad.mit.edu	37	19	10557018	10557018	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:10557018C>T	uc002moj.2	+	1	553	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	PDE4A_uc021uow.1_Missense_Mutation_p.R127C|PDE4A_uc002mok.2_Missense_Mutation_p.R123C|PDE4A_uc002mol.2_Missense_Mutation_p.R88C	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	149					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	p.G149D(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CTTCCTGTACCGCTCAGACAG	0.662000														19			11		0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256124	140256124	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:140256124C>T	uc003lic.2	+	0	1194	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	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_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S356L	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	371	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)			ACTTCACTGTCGCTCCCTGTG	0.517000														5			40		0	0	0.001485	0	0
OR6C2	341416	broad.mit.edu	37	12	55846762	55846762	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:55846762C>T	uc001sgz.1	+	0	765	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GCTGCATCTTCATCTATATCA	0.423000														64			27		0	0	0.005443	0	0
FRAS1	80144	broad.mit.edu	37	4	79254479	79254479	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:79254479G>A	uc003hlb.2	+	18	2631	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	FRAS1_uc003hkw.3_Missense_Mutation_p.D731N|FRAS1_uc003hkz.3_Missense_Mutation_p.D435N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	731					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TAACTGCACAGACTGTGGGCC	0.527000														15			4		0	0	0.000248	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451201	110451201	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:110451201G>A	uc003yne.3	+	31	3940	c.3836G>A	c.(3835-3837)gGa>gAa	p.G1279E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1279	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATGTTGGAGGAAAAACCTGC	0.343000										HNSCC(38;0.096)				46			44		0	0	0.001951	0	0
GABRB2	2561	broad.mit.edu	37	5	160721197	160721197	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:160721197G>A	uc003lys.1	-	10	1648	c.1430C>T	c.(1429-1431)aCc>aTc	p.T477I	GABRB2_uc011deh.1_Missense_Mutation_p.T278I|GABRB2_uc003lyr.1_Missense_Mutation_p.T439I|GABRB2_uc003lyt.1_Missense_Mutation_p.T439I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	477					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)	GTCAGGGATGGTGATTTTCAG	0.488000														33			9		0	0	0.000673	0	0
TP53BP2	7159	broad.mit.edu	37	1	223989873	223989873	+	Silent	SNP	C	T	T	rs142207720		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:223989873C>T	uc001hod.3	-	9	1594	c.783G>A	c.(781-783)ccG>ccA	p.P261P	TP53BP2_uc010pvb.2_Silent_p.P390P|TP53BP2_uc010puz.2_5'Flank|TP53BP2_uc010pva.2_Silent_p.P29P	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	384					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)		GTATTTTCATCGGCCCCTCTG	0.522000														112			34		0	0	0.001706	0	0
FUT6	2528	broad.mit.edu	37	19	5832366	5832366	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:5832366A>T	uc002mdf.1	-	3	739	c.213T>A	c.(211-213)ttT>ttA	p.F71L	FUT6_uc021unl.1_Missense_Mutation_p.F71L|FUT6_uc002mdg.1_Missense_Mutation_p.F71L|FUT6_uc002mdh.1_Missense_Mutation_p.F71L|FUT6_uc021unm.1_Missense_Mutation_p.F71L	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	71					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGGGTTTGTTAAAAGGCCACG	0.612000														59			18		0	0	0.001216	0	0
PACRG	135138	broad.mit.edu	37	6	163483255	163483255	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:163483255C>T	uc003qua.3	+	3	589	c.365C>T	c.(364-366)cCc>cTc	p.P122L	PACRG_uc003qub.3_Missense_Mutation_p.P122L|PACRG_uc003quc.3_Missense_Mutation_p.P122L	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	122										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ATGACATTTCCCTATGAGTTT	0.428000														10			39		0	0	0.005524	0	0
OR4A16	81327	broad.mit.edu	37	11	55110705	55110705	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:55110705T>A	uc010rie.2	+	0	29	c.29T>A	c.(28-30)tTt>tAt	p.F10Y		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTACAGAATTTGTCCTCCTG	0.383000														19			5		0	0	0.000602	0	0
SYNE1	23345	broad.mit.edu	37	6	152847283	152847283	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:152847283G>A	uc021zhb.1	-	2	380	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	SYNE1_uc003qot.4_Missense_Mutation_p.L53F|SYNE1_uc003qou.4_Missense_Mutation_p.L53F|SYNE1_uc010kjb.1_Missense_Mutation_p.L53F|SYNE1_uc003qpa.1_Missense_Mutation_p.L53F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	53	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCAAAAAGATCGTCCACC	0.423000										HNSCC(10;0.0054)				10			41		0	0	0.003610	0	0
PRLR	5618	broad.mit.edu	37	5	35065834	35065834	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:35065834C>T	uc003jjm.3	-	9	1785	c.1226G>A	c.(1225-1227)gGt>gAt	p.G409D	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.G308D|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	409					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTTGGATCCACCAGCATGAAA	0.512000														147			50		0	0	0.003610	0	0
GBF1	8729	broad.mit.edu	37	10	104121493	104121493	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:104121493A>T	uc001kux.2	+	13	1801	c.1507A>T	c.(1507-1509)Atg>Ttg	p.M503L	GBF1_uc001kuy.2_Missense_Mutation_p.M503L|GBF1_uc001kuz.2_Missense_Mutation_p.M504L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	503					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.L502V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAAAAAGCTTATGGAGATCAT	0.448000														24			20		0	0	0.002780	0	0
OR52M1	119772	broad.mit.edu	37	11	4567352	4567352	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:4567352G>A	uc010qyf.2	+	0	932	c.932G>A	c.(931-933)aGg>aAg	p.R311K		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAATACCAAGGATAGAAATG	0.418000														26			7		0	0	0.001984	0	0
SHMT1	6470	broad.mit.edu	37	17	18233963	18233963	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:18233963G>A	uc002gta.3	-	9	1267	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	SHMT1_uc002gsz.3_Silent_p.I134I|SHMT1_uc002gtb.3_Silent_p.I320I|SHMT1_uc010vxt.2_Silent_p.I221I	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	359					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GATCCACAAGGATCAAATGGT	0.488000														27			15		0	0	0.003163	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032136	46032136	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:46032136C>T	uc002zfo.1	+	0	141	c.119C>T	c.(118-120)tCc>tTc	p.S40F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	40	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACTGGCTCCTCCTGGCAGGTG	0.642000														43			23		0	0	0.002299	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997664	19997664	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:19997664C>T	uc002ktv.1	-	0	215	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	37						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAGCCGACTCGTAACTGATC	0.373000														30			22		0	0	0.002299	0	0
MMP26	56547	broad.mit.edu	37	11	5011962	5011962	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:5011962C>T	uc001lzv.3	+	2	473	c.455C>T	c.(454-456)tCt>tTt	p.S152F		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	152					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCAAGGTTTCTTTCTGGCAG	0.428000														25			49		0	0	0.003610	0	0
CDHR2	54825	broad.mit.edu	37	5	176011480	176011480	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:176011480G>A	uc021yie.1	+	18	2472	c.2198G>A	c.(2197-2199)aGc>aAc	p.S733N	CDHR2_uc003mem.2_Missense_Mutation_p.S733N|CDHR2_uc003men.1_Missense_Mutation_p.S733N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	733	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATCAGCTTCAGCCTGTCGGGG	0.647000														108			30		0	0	0.002445	0	0
FMO2	2327	broad.mit.edu	37	1	171162636	171162636	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:171162636G>A	uc001ghk.1	+	2	412	c.295G>A	c.(295-297)Gat>Aat	p.D99N	FMO2_uc010pmd.1_5'UTR	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	99					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.F98C(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAAAAATTTGATCTGCTAAA	0.323000														44			10		0	0	0.001855	0	0
USP6	9098	broad.mit.edu	37	17	5040009	5040009	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:5040009C>T	uc002gau.1	+	17	2969	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	USP6_uc002gav.1_Missense_Mutation_p.P247S|USP6_uc010ckz.1_5'UTR|DQ576627_uc002gbb.3_5'Flank|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank|DQ573130_uc002gbd.3_Non-coding_Transcript	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	247	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAAGTCACAACCCAAGACCAT	0.587000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									142			53		0	0	0.003610	0	0
USHBP1	83878	broad.mit.edu	37	19	17374903	17374903	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:17374903G>A	uc002nfs.1	-	2	224	c.111C>T	c.(109-111)agC>agT	p.S37S	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Intron|USHBP1_uc010eam.1_5'UTR	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	37							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGGGCTTGGAGCTCCCACTGG	0.657000														27			5		0	0	0.001168	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745056	140745056	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:140745056C>T	uc003lju.2	+	0	1159	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.P387S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	390	Cadherin 4.				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)			ATGCTCTATTCCTAGGAATTT	0.398000														27			28		0	0	0.005443	0	0
ESPL1	9700	broad.mit.edu	37	12	53683298	53683298	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:53683298C>T	uc001sck.2	+	21	5124	c.5033C>T	c.(5032-5034)tCc>tTc	p.S1678F	ESPL1_uc001scj.2_Missense_Mutation_p.S1353F	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1678					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	p.F1677F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CGCCTCTTTTCCTTCAGGGCT	0.597000														25			39		0	0	0.001287	0	0
FCGR2C	9103	broad.mit.edu	37	1	161561178	161561178	+	RNA	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:161561178C>T	uc009wuj.2	+	4		c.873C>T			FCGR2C_uc009wuk.2_Non-coding_Transcript|FCGR2C_uc021pdh.1_Non-coding_Transcript|FCGR2C_uc021pdi.1_Non-coding_Transcript|FCGR2C_uc021pdj.1_Non-coding_Transcript					Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGTGACCATCACTGTCCAAG	0.527000														77			14		0	0	0.004007	0	0
HOXA3	3200	broad.mit.edu	37	7	27147911	27147911	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:27147911A>T	uc011jzl.2	-	2	1155	c.955T>A	c.(955-957)Tgc>Agc	p.C319S	HOXA3_uc003syk.3_Missense_Mutation_p.C319S	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	319					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGGGGTGCGCAGCTGGGCAGG	0.741000														13			12		0	0	0.001855	0	0
SREBF2	6721	broad.mit.edu	37	22	42266928	42266928	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:42266928C>T	uc003bbi.3	+	3	925	c.756C>T	c.(754-756)tcC>tcT	p.S252S	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	252	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACAGATTCCCTTGTTTTGA	0.517000														20			132		0	0	0.003610	0	0
KATNAL1	84056	broad.mit.edu	37	13	30784559	30784559	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:30784559G>A	uc001uss.3	-	9	1269	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	KATNAL1_uc001ust.3_Silent_p.L390L	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	390						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TTGATCTTCAGAAGCTCAGCT	0.373000														52			25		0	0	0.005443	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248915	36248915	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:36248915G>A	uc001mwk.1	+	4	772	c.735G>A	c.(733-735)caG>caA	p.Q245Q	LDLRAD3_uc010rey.1_Silent_p.Q196Q|LDLRAD3_uc010rez.1_Silent_p.Q124Q|LDLRAD3_uc010rfa.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	245						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TGGCCAGCCAGGCGGAGCAGA	0.612000														66			20		0	0	0.003954	0	0
KANK2	25959	broad.mit.edu	37	19	11289134	11289134	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:11289134G>A	uc002mqm.3	-	3	1510	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	KANK2_uc021upe.1_Intron|KANK2_uc002mqo.4_Intron|KANK2_uc002mqp.1_Intron	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	472										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGGAGGGGAGGACAGCGGAG	0.677000														20			29		0	0	0.001786	0	0
OTOP1	133060	broad.mit.edu	37	4	4190620	4190620	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:4190620C>T	uc003ghp.1	-	5	1779	c.1749G>A	c.(1747-1749)tgG>tgA	p.W583*		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	583					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCACAATTATCCAGGGTTCAA	0.463000														121			7		0	0	0.000673	0	0
OR2T27	403239	broad.mit.edu	37	1	248813900	248813900	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248813900C>T	uc010pzo.2	-	0	286	c.286G>A	c.(286-288)Gga>Aga	p.G96R		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGTGCATCCAGCAAAGGAA	0.532000														66			9		0	0	0.002299	0	0
ATXN10	25814	broad.mit.edu	37	22	46134706	46134706	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:46134706G>A	uc003bgm.2	+	7	1256	c.990G>A	c.(988-990)ctG>ctA	p.L330L	ATXN10_uc011aqt.2_Silent_p.L266L|ATXN10_uc003bgn.2_Silent_p.L141L	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	330					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTGGCTTGCTGGAAAGAGTGA	0.408000														71			19		0	0	0.002299	0	0
TNIK	23043	broad.mit.edu	37	3	170789032	170789032	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:170789032G>A	uc003fhh.2	-	28	3874	c.3529C>T	c.(3529-3531)Cat>Tat	p.H1177Y	TNIK_uc003fhi.2_Missense_Mutation_p.H1122Y|TNIK_uc003fhj.2_Missense_Mutation_p.H1148Y|TNIK_uc003fhk.2_Missense_Mutation_p.H1169Y|TNIK_uc003fhl.2_Missense_Mutation_p.H1093Y|TNIK_uc003fhm.2_Missense_Mutation_p.H1114Y|TNIK_uc003fhn.2_Missense_Mutation_p.H1140Y|TNIK_uc003fho.2_Missense_Mutation_p.H1085Y|TNIK_uc003fhg.2_Missense_Mutation_p.H355Y|TNIK_uc003fhp.3_Missense_Mutation_p.H109Y	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1177	CNH.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATGAATTTATGATACGGTTTA	0.299000														12			6		0	0	0.003080	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954738	161954738	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:161954738C>T	uc010pkq.2	-	6	1934	c.1510G>A	c.(1510-1512)Ggg>Agg	p.G504R	OLFML2B_uc001gbt.3_5'UTR|OLFML2B_uc001gbu.3_Missense_Mutation_p.G503R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	503	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGGTCGGCCCCGTGATTGTG	0.542000														145			25		0	0	0.001786	0	0
CHAMP1	283489	broad.mit.edu	37	13	115091392	115091392	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:115091392T>C	uc001vuv.3	+	2	2407	c.2075T>C	c.(2074-2076)tTt>tCt	p.F692S	CHAMP1_uc010tko.2_Missense_Mutation_p.F692S|CHAMP1_uc010ahb.3_Missense_Mutation_p.F692S|CHAMP1_uc021rmx.1_Missense_Mutation_p.F692S	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	692	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AAAGAAGCTTTTATCTCTGAA	0.363000														32			4		0	0	0.000602	0	0
GHR	2690	broad.mit.edu	37	5	42718559	42718559	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:42718559G>A	uc021xxv.1	+	9	1108	c.971G>A	c.(970-972)gGa>gAa	p.G324E	GHR_uc003jmt.3_Missense_Mutation_p.G317E|GHR_uc003jmu.3_Missense_Mutation_p.G317E|GHR_uc003jmv.2_Missense_Mutation_p.G317E|GHR_uc021xxw.1_Missense_Mutation_p.G317E|GHR_uc021xxx.1_Missense_Mutation_p.G317E|GHR_uc021xxy.1_Missense_Mutation_p.G317E|GHR_uc021xxz.1_Missense_Mutation_p.G317E|GHR_uc021xya.1_Missense_Mutation_p.G317E|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_Missense_Mutation_p.E294K|GHR_uc011cpq.2_Missense_Mutation_p.G130E|GHR_uc021xyd.1_Missense_Mutation_p.G295E	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	317					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCTAGGAAGGAAAATTAGAG	0.299000														108			37		0	0	0.002222	0	0
RELL1	768211	broad.mit.edu	37	4	37650950	37650950	+	Silent	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:37650950A>G	uc003gsz.2	-	1	351	c.261T>C	c.(259-261)cgT>cgC	p.R87R	RELL1_uc010ifc.3_Silent_p.R87R	NM_001085399	NP_001078869	Q8IUW5	RELL1_HUMAN	Homo sapiens RELT-like 1 (RELL1), transcript variant 2, mRNA.	87						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						CTGTTGTACAACGATAGCCTT	0.428000														97			47		0	0	0.003214	0	0
DOCK3	1795	broad.mit.edu	37	3	51387809	51387809	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:51387809C>T	uc011bds.2	+	39	4116	c.4093C>T	c.(4093-4095)Cct>Tct	p.P1365S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1365	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGAAGTTTCCTTTCTTTCT	0.428000														83			33		0	0	0.003755	0	0
CLTCL1	8218	broad.mit.edu	37	22	19220999	19220999	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:19220999C>T	uc021wle.1	-	7	1389	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	CLTCL1_uc021wld.1_Silent_p.L438L|CLTCL1_uc021wlc.1_Silent_p.L438L|CLTCL1_uc021wlf.1_Silent_p.L438L|CLTCL1_uc011agw.1_Silent_p.L438L	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	438	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GCTGAAGAACCAGATGGCAAA	0.512000			T	?	ALCL									16			7		0	0	0.001984	0	0
EPHA7	2045	broad.mit.edu	37	6	94068038	94068038	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:94068038G>A	uc003poe.3	-	3	1165	c.924C>T	c.(922-924)tcC>tcT	p.S308S	EPHA7_uc003pof.3_Silent_p.S308S|EPHA7_uc011eac.2_Silent_p.S308S	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	308	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S308Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTCACATCTGGAGGAGCCTT	0.463000														10			49		0	0	0.003610	0	0
IFIH1	64135	broad.mit.edu	37	2	163128755	163128755	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:163128755G>A	uc002uce.3	-	12	2819	c.2597C>T	c.(2596-2598)cCa>cTa	p.P866L		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	866	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATACTCCTCTGGTTTCATATT	0.378000														9			16		0	0	0.006122	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868116	20868116	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:20868116C>T	uc010sii.2	+	6	928	c.573C>T	c.(571-573)ttC>ttT	p.F191F	SLCO1C1_uc010sij.2_Intron|SLCO1C1_uc009zip.3_Silent_p.F25F|SLCO1C1_uc001rei.3_Silent_p.F191F|SLCO1C1_uc010sik.2_Silent_p.F73F	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	191					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTTATGTTTTCCTGGGCAATC	0.398000														123			45		0	0	0.003214	0	0
KRT6B	3854	broad.mit.edu	37	12	52841007	52841007	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:52841007G>A	uc001sak.3	-	8	1710	c.1662C>T	c.(1660-1662)acC>acT	p.T554T		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	554	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGGAGGAGGAGGTGGTGGTGT	0.622000														66			16		0	0	0.006122	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27499703	27499704	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:27499703_27499704CC>TT	uc002rjl.1	+	2	525_526	c.107_108CC>TT	c.(106-108)tcc>tTT	p.S36F	SLC30A3_uc010ylh.2_5'Flank|DNAJC5G_uc010yli.1_Missense_Mutation_p.S36F|DNAJC5G_uc002rjm.1_Missense_Mutation_p.S36F	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA.	36	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.S36F(2)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAAAAAATCCTACAGGTTCA	0.426000														25			8		0	0	0.004672	0	0
C12orf51	283450	broad.mit.edu	37	12	112622399	112622400	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:112622399_112622400GG>AA	uc021reb.1	-	60	10364_10365	c.9968_9969CC>TT	c.(9967-9969)ccc>cTT	p.P3323L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GTGTCTTCTCGGGCTCAACTTT	0.629000														29			15		0	0	0.004672	0	0
ABCC5	10057	broad.mit.edu	37	3	183639171	183639172	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:183639171_183639172GG>AA	uc003fmg.3	-	29	4395_4396	c.4230_4231CC>TT	c.(4228-4233)acccca>acTTca	p.P1411S	ABCC5_uc011bqt.2_Missense_Mutation_p.P939S|ABCC5_uc010hxl.3_Missense_Mutation_p.P1368S	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1411	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGACCGATGGGGTGTCAAACT	0.554000														42			17		0	0	0.004672	0	0
CYP2C8	1558	broad.mit.edu	37	10	96805708	96805708	+	Splice_Site	SNP	C	T	T	rs78637571	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:96805708C>T	uc001kkb.3	-	6	915	c.820_splice	c.e6-1	p.E274_splice	CYP2C8_uc010qoa.2_Splice_Site_p.E204_splice|CYP2C8_uc010qoc.2_Splice_Site_p.E172_splice|CYP2C8_uc001kkc.3_Splice_Site|CYP2C8_uc010qob.2_Splice_Site_p.E188_splice|CYP2C8_uc021pwl.1_Splice_Site_p.E204_splice|CYP2C8_uc010qod.1_Splice_Site_p.E188_splice	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	274					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTGTCCTTTTCCTAGAAGTGA	0.328000														5			26		0	0	0.004656	0	0
MLL	4297	broad.mit.edu	37	11	118359392	118359392	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:118359392C>T	uc001pta.3	+	10	4419	c.4396C>T	c.(4396-4398)Cct>Tct	p.P1466S	MLL_uc001ptb.3_Missense_Mutation_p.P1466S|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1466					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAACGAGCGCCCTCTGGAGGA	0.433000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									38			37		0	0	0.001485	0	0
TMEM144	55314	broad.mit.edu	37	4	159133876	159133876	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:159133876C>T	uc003ipx.3	+	2	577	c.57C>T	c.(55-57)atC>atT	p.I19I	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	19						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)		TTGTAGCTATCCTTTTGTTTG	0.328000														44			11		0	0	0.000978	0	0
CSMD1	64478	broad.mit.edu	37	8	3081279	3081279	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:3081279C>T	uc022aqr.1	-	27	4846	c.4456G>A	c.(4456-4458)Gac>Aac	p.D1486N	CSMD1_uc011kwj.2_Missense_Mutation_p.D879N|CSMD1_uc003wqe.3_Missense_Mutation_p.D643N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1487	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGACAAAGTCCGGGTTCACT	0.428000														15			46		0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110527420	110527420	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:110527420T>G	uc003yne.3	+	71	11679	c.11575T>G	c.(11575-11577)Ttt>Gtt	p.F3859V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3859					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGAATTTTCTTTTCCACACT	0.313000										HNSCC(38;0.096)				21			12		0	0	0.000978	0	0
GUCA2A	2980	broad.mit.edu	37	1	42628612	42628612	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:42628612C>T	uc001chd.1	-	2	325	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_033553	NP_291031	Q02747	GUC2A_HUMAN	Homo sapiens guanylate cyclase activator 2A (guanylin) (GUCA2A), mRNA.	105					signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCACAGATTTCACATGTGCCC	0.622000														23			33		0	0	0.005524	0	0
C10orf128	170371	broad.mit.edu	37	10	50396346	50396346	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:50396346G>A	uc010qgo.2	-	0	62	c.36C>T	c.(34-36)ttC>ttT	p.F12F	C10orf128_uc001jhn.4_Silent_p.F12F|C10orf128_uc001jho.4_Silent_p.F12F			Q5T292	CJ128_HUMAN	Homo sapiens chromosome 10 open reading frame 128 (C10orf128), mRNA.	12						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						TACCCAGGAGGAAGAGGATCC	0.632000														15			17		0	0	0.001216	0	0
FZD2	2535	broad.mit.edu	37	17	42636355	42636355	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:42636355C>T	uc002igx.2	+	0	1544	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	433					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A433A(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCTCCTGGCCGGCTTCGTGT	0.637000														61			23		0	0	0.002780	0	0
MFSD12	126321	broad.mit.edu	37	19	3547298	3547298	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:3547298T>C	uc002lxw.3	-	5	1165	c.995A>G	c.(994-996)aAg>aGg	p.K332R	MFSD12_uc002lxx.3_Missense_Mutation_p.K332R|MFSD12_uc002lxy.3_Missense_Mutation_p.K323R|MFSD12_uc002lxz.3_Missense_Mutation_p.K332R	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	332					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GTTGATGGGCTTCATGAGGAA	0.627000														64			37		0	0	0.002522	0	0
FERD3L	222894	broad.mit.edu	37	7	19184726	19184726	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:19184726G>A	uc003suo.1	-	0	319	c.260C>T	c.(259-261)tCc>tTc	p.S87F	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	87					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GCCTAATAGGGAGACAcctct	0.612000														19			5		0	0	0.000602	0	0
CUX1	1523	broad.mit.edu	37	7	101844909	101844909	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:101844909C>T	uc003uys.4	+	17	2492	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.L778L	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	778					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGCCTCTGCTCTGCCGAACCC	0.672000														59			60		0	0	0.003610	0	0
TAB1	10454	broad.mit.edu	37	22	39824104	39824104	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:39824104C>T	uc003axt.3	+	9	1272	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	TAB1_uc003axr.3_Missense_Mutation_p.S484F|TAB1_uc011aok.2_Missense_Mutation_p.S242F|TAB1_uc003axu.1_Missense_Mutation_p.S408F	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	408					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GTGACCCTCTCCCTTGTCATG	0.622000														4			48		0	0	0.003610	0	0
AP1M1	8907	broad.mit.edu	37	19	16344396	16344396	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:16344396C>T	uc002ndv.2	+	10	1349	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	AP1M1_uc002ndu.2_Silent_p.F380F|AP1M1_uc010xpd.1_Silent_p.F327F	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	380	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GTGTCAAGTTCGAGATCCCTT	0.627000														25			5		0	0	0.001984	0	0
LOC494141	494141	broad.mit.edu	37	11	18231202	18231202	+	RNA	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:18231202G>A	uc009yhh.3	+	1		c.226G>A			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		AAAAAAAAAAGAAAAAGTCCT	0.328000														10			7		0	0	0.000978	0	0
CR1	1378	broad.mit.edu	37	1	207696956	207696956	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:207696956G>A	uc001hfy.3	+	5	628	c.488_splice	c.e5-1	p.R163_splice	CR1_uc009xcl.1_Splice_Site_p.R163_splice|CR1_uc001hfx.3_Splice_Site_p.R163_splice|CR1_uc021pij.1_Splice_Site_p.R163_splice|CR1_uc009xcj.1_Splice_Site_p.R163_splice|CR1_uc009xck.1_Splice_Site_p.R163_splice	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	163	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						CTTTTTCCAGGAATTCCTTGT	0.383000														51			12		0	0	0.001368	0	0
ERBB4	2066	broad.mit.edu	37	2	212543876	212543876	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:212543876G>A	uc002veg.1	-	12	1621	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	ERBB4_uc002veh.1_Missense_Mutation_p.S508F|ERBB4_uc010zji.1_Missense_Mutation_p.S508F|ERBB4_uc010zjj.1_Missense_Mutation_p.S508F|ERBB4_uc010fut.1_Missense_Mutation_p.S508F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	508	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCCATCACTGGAACACAGATG	0.473000										TSP Lung(8;0.080)				23			31		0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179577980	179577980	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179577980G>A	uc021vsy.1	-	89	23374	c.23149C>T	c.(23149-23151)Cat>Tat	p.H7717Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H4378Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8644	Ig-like 59.						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)			TTTCCTTCATGGAACCAGGAG	0.428000														13			12		0	0	0.001855	0	0
PLXNA1	5361	broad.mit.edu	37	3	126722195	126722195	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:126722195C>T	uc003ejg.3	+	2	1400	c.1400C>T	c.(1399-1401)cCc>cTc	p.P467L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	467	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTCTCAAACCCCGGTGGCCGG	0.672000														36			12		0	0	0.002450	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345121	135345121	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:135345121G>A	uc001lnj.1	+	2	403	c.370G>A	c.(370-372)Gac>Aac	p.D124N	CYP2E1_uc001lnk.1_5'UTR|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	124					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TACCTGGAAGGACATCCGGCG	0.532000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					15			58		0	0	0.003610	0	0
FOXO1	2308	broad.mit.edu	37	13	41133723	41133723	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:41133723C>T	uc001uxl.4	-	1	2290	c.1905G>A	c.(1903-1905)gtG>gtA	p.V635V	FOXO1_uc010acc.1_Silent_p.V450V	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	635					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGTTGGGCAACACATTGTCAA	0.453000														71			32		0	0	0.002096	0	0
MYH6	4624	broad.mit.edu	37	14	23872987	23872987	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:23872987C>T	uc001wjv.3	-	9	807	c.736_splice	c.e9-1	p.G246_splice	MYH6_uc010akp.2_Splice_Site_p.G246_splice	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	246	Myosin head-like.				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)		ATGAATTTCCCCTGGGGACGA	0.562000														4			4		0	0	0.000248	0	0
RUFY4	285180	broad.mit.edu	37	2	218940293	218940293	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:218940293G>A	uc010fvl.2	+	8	1596	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R	RUFY4_uc002vgw.3_Missense_Mutation_p.G187R	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	360							metal ion binding	p.W359C(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGCAGTATCAGGGAGCAGGCA	0.597000														22			7		0	0	0.003080	0	0
EDC4	23644	broad.mit.edu	37	16	67915273	67915273	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:67915273C>T	uc002eur.3	+	19	2981	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	EDC4_uc010cer.3_Silent_p.S533S|EDC4_uc002eus.3_Silent_p.S644S|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	914	Sufficient for nuclear localization.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCAAGGGATCCCCTCGAACCT	0.562000														101			30		0	0	0.001287	0	0
CUX1	1523	broad.mit.edu	37	7	101844965	101844965	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:101844965C>T	uc003uys.4	+	17	2548	c.2421C>T	c.(2419-2421)ccC>ccT	p.P807P	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.P796P	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	796					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGCTGGACCCCCAGGGAGCAG	0.682000														33			11		0	0	0.000673	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664101	44664101	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:44664101C>T	uc010zxl.1	+	2	351	c.275C>T	c.(274-276)aCc>aTc	p.T92I	SLC12A5_uc002xra.2_Missense_Mutation_p.T69I|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.T69I	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	92					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.P91P(1)|p.P91L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCAACTACACCAACCTGCCC	0.577000														73			58		0	0	0.003610	0	0
HERC1	8925	broad.mit.edu	37	15	63950905	63950905	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:63950905G>A	uc002amp.3	-	47	9585	c.9437C>T	c.(9436-9438)tCc>tTc	p.S3146F		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3146					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTTTCTACGGAGCCATGGCA	0.428000														47			14		0	0	0.003163	0	0
SORL1	6653	broad.mit.edu	37	11	121421348	121421348	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:121421348G>A	uc001pxx.3	+	15	2364	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	745					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AAGCGCGACTGGAAGGAGAGC	0.517000														29			18		0	0	0.000958	0	0
ATAD3C	219293	broad.mit.edu	37	1	1396196	1396196	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:1396196C>T	uc001aft.2	+	9	1874	c.879C>T	c.(877-879)gaC>gaT	p.D293D		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	293							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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)		CCTGCATCGACGTGATGGTCC	0.607000														8			14		0	0	0.001855	0	0
C1orf105	92346	broad.mit.edu	37	1	172437642	172437642	+	Missense_Mutation	SNP	G	A	A	rs146020107	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:172437642G>A	uc001gik.3	+	6	658	c.460G>A	c.(460-462)Gga>Aga	p.G154R		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	154								p.G154*(2)|p.G154R(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TGTCTTCCACGGATTACTGAC	0.478000														91			217		0	0	0.003610	0	0
ZZEF1	23140	broad.mit.edu	37	17	3917794	3917794	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:3917794G>A	uc002fxe.3	-	49	8225	c.8161C>T	c.(8161-8163)Cct>Tct	p.P2721S	ZZEF1_uc002fxg.1_Missense_Mutation_p.P42S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2721							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGGCACCAGGAATGTGAACT	0.522000														43			55		0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175086184	175086184	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:175086184C>T	uc001gkl.1	+	9	2342	c.2229C>T	c.(2227-2229)acC>acT	p.T743T		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	743	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGCGCTACACCTCTGCCAAGG	0.637000														102			22		0	0	0.003330	0	0
CDHR2	54825	broad.mit.edu	37	5	176019773	176019773	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:176019773G>A	uc021yie.1	+	30	4058	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K	CDHR2_uc003mem.2_Missense_Mutation_p.E1262K|CDHR2_uc003men.1_Missense_Mutation_p.E1262K	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1262					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAACAGTCAGGAAATCAAGGC	0.542000														29			39		0	0	0.003214	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143423	61143423	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:61143423C>T	uc021wfy.1	-	1		c.460_splice	c.e1+1		C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		GGGGCCTGGTCACAGCTGCTC	0.652000														39			29		0	0	0.001512	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100451964	100451964	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:100451964G>A	uc001tgq.3	-	13	3320	c.3091C>T	c.(3091-3093)Ctt>Ttt	p.L1031F	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.L681F	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1031										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTACTTGAAAGTATGTTTTGA	0.323000														45			13		0	0	0.001855	0	0
DPP6	1804	broad.mit.edu	37	7	154593139	154593139	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:154593139G>A	uc003wlk.3	+	12	1503	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G	DPP6_uc003wli.3_Silent_p.G394G|DPP6_uc003wlm.3_Silent_p.G396G|DPP6_uc011kvq.2_Silent_p.G351G	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	458					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGGACGAGGGAAATTCTATC	0.532000														8			5		0	0	0.000602	0	0
HEATR8	374977	broad.mit.edu	37	1	55152110	55152110	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:55152110C>T	uc010ooe.1	+	14	3024	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.F468F|HEATR8_uc010ood.1_Silent_p.F418F|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Silent_p.F900F|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.F102F|HEATR8_uc001cxu.3_Silent_p.F46F	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	900						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTCTCCCTTCGTACCTGTGC	0.607000														23			33		0	0	0.004289	0	0
ZNF16	7564	broad.mit.edu	37	8	146157776	146157776	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:146157776C>T	uc003zet.3	-	3	584	c.397G>A	c.(397-399)Gag>Aag	p.E133K	ZNF16_uc003zeu.3_Missense_Mutation_p.E133K	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AAGTCCCCCTCCTGGGAGAGG	0.572000														67			28		0	0	0.005443	0	0
CAMK2B	816	broad.mit.edu	37	7	44294152	44294152	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:44294152C>T	uc003tkq.2	-	4	540	c.330G>A	c.(328-330)gaG>gaA	p.E110E	CAMK2B_uc003tkp.2_Silent_p.E110E|CAMK2B_uc003tkr.2_Silent_p.E110E|CAMK2B_uc003tks.2_Silent_p.E110E|CAMK2B_uc003tku.2_Silent_p.E110E|CAMK2B_uc003tkv.2_Silent_p.E110E|CAMK2B_uc003tkt.2_Silent_p.E110E|CAMK2B_uc003tkw.2_Silent_p.E110E|CAMK2B_uc010kyc.2_Silent_p.E110E	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	110	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S109S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGGCATCAGCCTCGCTGTAGT	0.562000														99			21		0	0	0.001882	0	0
NRK	203447	broad.mit.edu	37	X	105183928	105183928	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:105183928G>A	uc004emd.3	+	22	4165	c.3862G>A	c.(3862-3864)Gat>Aat	p.D1288N	NRK_uc010npc.1_Missense_Mutation_p.D956N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1288	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						TTTGAATAATGATCCAGAAAG	0.373000										HNSCC(51;0.14)				0			3		0	0	0.000248	0	0
C1orf189	388701	broad.mit.edu	37	1	154173059	154173059	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:154173059C>T	uc001fee.1	-	2	106	c.80G>A	c.(79-81)cGa>cAa	p.R27Q		NM_001010979	NP_001010979	Q5VU69	CA189_HUMAN	Homo sapiens chromosome 1 open reading frame 189 (C1orf189), mRNA.	27										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ATGTGAATTTCGCCACCTGCT	0.483000														213			50		0	0	0.003610	0	0
AOC3	8639	broad.mit.edu	37	17	41004593	41004593	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:41004593G>A	uc002ibv.3	+	0	1393	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	411					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCACCTACGTGGACTGGCACT	0.597000														21			46		0	0	0.003610	0	0
ZNF85	7639	broad.mit.edu	37	19	21133053	21133053	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:21133053C>T	uc002npg.4	+	3	1881	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	ZNF85_uc010ecn.3_Missense_Mutation_p.S513F|ZNF85_uc010eco.3_Missense_Mutation_p.S526F|ZNF85_uc002npi.3_Missense_Mutation_p.S519F	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	578						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TTTAAATGGTCCTCAGTCCTT	0.303000														20			7		0	0	0.001984	0	0
RPS18	6222	broad.mit.edu	37	6	33243594	33243594	+	Silent	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:33243594T>G	uc003odp.1	+	2	168	c.123T>G	c.(121-123)gcT>gcG	p.A41A	RPS18_uc010jum.1_Non-coding_Transcript|B3GALT4_uc003odr.3_5'Flank	NM_022551	NP_072045	P62269	RS18_HUMAN	Homo sapiens ribosomal protein S18 (RPS18), mRNA.	41					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						GAAGATATGCTCATGTGGTGT	0.488000														175			51		0	0	0.003610	0	0
KRT6B	3854	broad.mit.edu	37	12	52845466	52845466	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:52845466C>T	uc001sak.3	-	0	445	c.397G>A	c.(397-399)Gga>Aga	p.G133R		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	133	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGGATGCCTCCAGGGGGGCAC	0.637000														63			10		0	0	0.000978	0	0
CELSR1	9620	broad.mit.edu	37	22	46807511	46807511	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:46807511G>T	uc003bhw.1	-	5	4757	c.4757C>A	c.(4756-4758)aCc>aAc	p.T1586N	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1586	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTGGAGCCGGTCTGAGTGCC	0.627000														5			47		1.89013e-27	3.72233e-27	0.003610	1	0
GPR126	57211	broad.mit.edu	37	6	142729377	142729377	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:142729377C>T	uc010khe.3	+	15	2770	c.2359C>T	c.(2359-2361)Caa>Taa	p.Q787*	GPR126_uc010khc.3_Nonsense_Mutation_p.Q787*|GPR126_uc010khd.3_Nonsense_Mutation_p.Q759*|GPR126_uc010khf.3_Nonsense_Mutation_p.Q759*	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	787					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGATCCTGTTCAAATAAAAAT	0.363000														0			7		0	0	0.003080	0	0
LTBP1	4052	broad.mit.edu	37	2	33482440	33482440	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:33482440G>A	uc021vft.1	+	11	2280	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	LTBP1_uc002rou.3_Missense_Mutation_p.G427R|LTBP1_uc002rov.3_Intron|LTBP1_uc010ymz.2_Missense_Mutation_p.G427R|LTBP1_uc010yna.2_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	753					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTAGGTAAAGGACCTGTATT	0.488000														60			21		0	0	0.001882	0	0
ADCY8	114	broad.mit.edu	37	8	131896897	131896897	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:131896897G>A	uc003ytd.4	-	7	2278	c.2022C>T	c.(2020-2022)acC>acT	p.T674T	ADCY8_uc010mds.3_Silent_p.T674T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	674					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.H673N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCAAGTCGATGGTATGTTCTA	0.443000										HNSCC(32;0.087)				84			81		0	0	0.003610	0	0
CAMK2B	816	broad.mit.edu	37	7	44302632	44302632	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:44302632G>A	uc003tkq.2	-	2	402	c.192C>T	c.(190-192)atC>atT	p.I64I	CAMK2B_uc003tkp.2_Silent_p.I64I|CAMK2B_uc003tkr.2_Silent_p.I64I|CAMK2B_uc003tks.2_Silent_p.I64I|CAMK2B_uc003tku.2_Silent_p.I64I|CAMK2B_uc003tkv.2_Silent_p.I64I|CAMK2B_uc003tkt.2_Silent_p.I64I|CAMK2B_uc003tkw.2_Silent_p.I64I|CAMK2B_uc010kyc.2_Silent_p.I64I	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	64	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GAAGGCGGCAGATCCGAGCCT	0.617000														73			14		0	0	0.001216	0	0
IL7R	3575	broad.mit.edu	37	5	35876293	35876293	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:35876293G>A	uc003jjs.3	+	7	1174	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	362					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.F361Y(1)		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)			GAAAGCTTTGGAAGAGATTCA	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							38			15		0	0	0.003163	0	0
PGK2	5232	broad.mit.edu	37	6	49753976	49753976	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:49753976G>A	uc003ozu.3	-	0	1078	c.925C>T	c.(925-927)Cct>Tct	p.P309S		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	309					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.S308F(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ATCCAGCCAGGAGATATGCCA	0.468000														96			65		0	0	0.003610	0	0
DUSP10	11221	broad.mit.edu	37	1	221875800	221875800	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:221875800G>T	uc001hmy.2	-	3	1640	c.1403C>A	c.(1402-1404)cCg>cAg	p.P468Q	DUSP10_uc001hmx.2_Missense_Mutation_p.P126Q|DUSP10_uc001hmz.2_Missense_Mutation_p.P126Q	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	468					JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		AAGGATTCTCGGTGTCACACC	0.468000														246			8		0.000442599	0.000864571	0.000443	1	0
CR1	1378	broad.mit.edu	37	1	207751181	207751181	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:207751181C>T	uc001hfy.3	+	20	3359	c.3219C>T	c.(3217-3219)gcC>gcT	p.A1073A	CR1_uc009xcl.1_Silent_p.A623A|CR1_uc001hfx.3_Silent_p.A1523A|CR1_uc021pij.1_Silent_p.A1073A	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1073	Sushi 17.				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						CAACCATCGCCAATGGAGATT	0.483000														71			17		0	0	0.006122	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:127912080G>A	uc010mwv.3	-	7	1122	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_uc004bpg.4_Missense_Mutation_p.R264C|PPP6C_uc010mww.3_Missense_Mutation_p.R242C|PPP6C_uc011lzr.2_Missense_Mutation_p.R117C	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.T301T(2)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000														3			22		0	0	0.003330	0	0
CDH18	1016	broad.mit.edu	37	5	19483633	19483633	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:19483633C>T	uc003jgd.3	-	11	2193	c.1659G>A	c.(1657-1659)cgG>cgA	p.R553R	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Silent_p.R553R|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	553	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)					TAAATCTCCTCCGCCTTGTCA	0.438000														30			11		0	0	0.001368	0	0
OR6T1	219874	broad.mit.edu	37	11	123813587	123813587	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:123813587C>T	uc010sab.2	-	0	959	c.959G>A	c.(958-960)aGt>aAt	p.S320N		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTTCCTTTGACTTGTGACCCT	0.413000														64			22		0	0	0.001523	0	0
SAFB2	9667	broad.mit.edu	37	19	5590305	5590305	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:5590305G>A	uc002mcd.3	-	17	2721	c.2509C>T	c.(2509-2511)Ctg>Ttg	p.L837L		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	837	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GGAGGGGGCAGCCCCCGGCCT	0.706000														19			5		0	0	0.000602	0	0
DDX1	1653	broad.mit.edu	37	2	15769735	15769735	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:15769735C>G	uc002rce.3	+	23	2173	c.1885C>G	c.(1885-1887)Cat>Gat	p.H629D	DDX1_uc021vee.1_Missense_Mutation_p.H548D	NM_004939	NP_004930	Q92499	DDX1_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA.	629	Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA/RNA helicase activity|RNA helicase activity|chromatin binding|exonuclease activity|poly(A) RNA binding|protein binding|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GGTTTGGTACCATGTATGTAG	0.353000														29			13		0	0	0.003163	0	0
FABP1	2168	broad.mit.edu	37	2	88425770	88425770	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:88425770C>T	uc002sst.2	-	1	279	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	55					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TCACTTTGGACCCAGCGGTGA	0.537000														104			131		0	0	0.003610	0	0
UNC5B	219699	broad.mit.edu	37	10	73048423	73048424	+	Missense_Mutation	DNP	GG	AA	AA	rs115883185	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:73048423_73048424GG>AA	uc001jro.3	+	6	1451_1452	c.1000_1001GG>AA	c.(1000-1002)gga>AAa	p.G334K	UNC5B_uc001jrp.3_Missense_Mutation_p.G334K	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	334	TSP type-1 2.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACCCCAGAACGGAGGCCGTGAC	0.653000														4			23		0	0	0.004672	0	0
GRIK3	2899	broad.mit.edu	37	1	37271919	37271919	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:37271919C>T	uc001caz.2	-	13	2235	c.2100G>A	c.(2098-2100)aaG>aaA	p.K700K	GRIK3_uc001cba.1_Silent_p.K700K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	700					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGGTGGAGATCTTGGATTTCT	0.607000														11			11		0	0	0.000673	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993370	140993371	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:140993370_140993371GG>CA	uc004fbt.3	+	3	504_505	c.180_181GG>CA	c.(178-183)ggggag>ggCAag	p.E61K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	61							protein binding	p.E61D(1)|p.E61E(1)		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)					GTTCTGAGGGGGAGGACTCCTC	0.604000										HNSCC(15;0.026)				10			23		0	0	0.004672	0	0
IL1RN	3557	broad.mit.edu	37	2	113885270	113885270	+	Silent	SNP	G	A	A	rs2232353		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:113885270G>A	uc002tjb.3	+	0	133	c.69G>A	c.(67-69)acG>acA	p.T23T	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Silent_p.T26T|IL1RN_uc002tiy.3_5'UTR|IL1RN_uc002tja.3_Silent_p.T5T	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	23					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	ATTCAGAGACGATCTGCCGAC	0.542000									Lichen Sclerosis et Atrophicus, Familial Clustering of					30			18		0	0	0.000958	0	0
TACC2	10579	broad.mit.edu	37	10	123845170	123845170	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:123845170C>T	uc001lfv.3	+	3	3515	c.3155C>T	c.(3154-3156)gCt>gTt	p.A1052V	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A1052V|TACC2_uc010qtv.2_Missense_Mutation_p.A1052V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1052						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)				GACTCAGTAGCTCTCCTGGAT	0.617000														5			27		0	0	0.005443	0	0
ZNF716	441234	broad.mit.edu	37	7	57510020	57510020	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:57510020G>A	uc011kdi.1	+	0	138	c.26G>A	c.(25-27)gGa>gAa	p.G9E		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGACCCCCTGGAAGCCGAGAA	0.572000														16			17		0	0	0.001216	0	0
COG7	91949	broad.mit.edu	37	16	23457228	23457228	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:23457228G>A	uc002dlo.3	-	1	421	c.224C>T	c.(223-225)gCc>gTc	p.A75V		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	75					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CTGTTTTAGGGCTTCAACATC	0.388000														21			22		0	0	0.003330	0	0
FUT9	10690	broad.mit.edu	37	6	96651602	96651602	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:96651602T>C	uc003pop.4	+	2	912	c.571T>C	c.(571-573)Tgg>Cgg	p.W191R	FUT9_uc021zcw.1_Missense_Mutation_p.W191R	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	191					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATTGGTGTGCTGGGTTGTGAG	0.453000														18			8		0	0	0.003080	0	0
RP1	6101	broad.mit.edu	37	8	55534741	55534741	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:55534741T>G	uc003xsd.1	+	2	828	c.680T>G	c.(679-681)tTt>tGt	p.F227C	RP1_uc011ldy.1_Missense_Mutation_p.F227C	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	227	Doublecortin 2.				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)			AGGGAGCCATTTAAACCAGGA	0.493000														61			10		0	0	0.000978	0	0
DNAH5	1767	broad.mit.edu	37	5	13876808	13876808	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:13876808G>A	uc003jfd.2	-	21	3423	c.3381C>T	c.(3379-3381)atC>atT	p.I1127I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1127	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)					TGGTGGAGTTGATAATTGTGC	0.378000									Kartagener syndrome					31			39		0	0	0.001287	0	0
RPTN	126638	broad.mit.edu	37	1	152127240	152127240	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:152127240C>T	uc001ezs.1	-	2	2400	c.2335G>A	c.(2335-2337)Gag>Aag	p.E779K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	779	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						TGGTTCTGCTCGTCTTCATGG	0.458000														584			116		0	0	0.003610	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106083426	106083426	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:106083426C>T	uc004emo.3	+	8	1667	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emn.3_Missense_Mutation_p.S501L	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	501	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGCTTTTTTCAGGTATTACG	0.348000														7			20		0	0	0.002299	0	0
CDH8	1006	broad.mit.edu	37	16	61935354	61935354	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:61935354C>T	uc002eog.2	-	2	1231	c.276G>A	c.(274-276)ggG>ggA	p.G92G		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	92	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTTTTTTGCTCCCAGGATCCA	0.353000														47			17		0	0	0.000958	0	0
NPY5R	4889	broad.mit.edu	37	4	164272168	164272168	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:164272168G>A	uc003iqn.3	+	3	925	c.743G>A	c.(742-744)aGa>aAa	p.R248K	NPY5R_uc021xtw.1_Missense_Mutation_p.R248K	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	248					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAGAAAACAGACTTGAAGAA	0.383000														33			55		0	0	0.003610	0	0
SPATS2L	26010	broad.mit.edu	37	2	201284162	201284162	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:201284162C>T	uc010zhc.2	+	5	601	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	SPATS2L_uc002uvn.4_Missense_Mutation_p.R130C|SPATS2L_uc010fst.3_Missense_Mutation_p.R130C|SPATS2L_uc002uvo.4_Missense_Mutation_p.R70C|SPATS2L_uc002uvp.4_Missense_Mutation_p.R130C|SPATS2L_uc002uvq.4_Missense_Mutation_p.R130C|SPATS2L_uc002uvr.4_Missense_Mutation_p.R130C	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	130						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CCTTATCCCTCGTGAGAAAAA	0.488000														36			5		0	0	0.000602	0	0
UGDH	7358	broad.mit.edu	37	4	39510231	39510231	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:39510231G>A	uc003guk.2	-	6	1184	c.861C>T	c.(859-861)ctC>ctT	p.L287L	UGDH_uc011byp.2_Silent_p.L190L|UGDH_uc003gul.2_Silent_p.L220L	NM_003359	NP_001171630	O60701	UGDH_HUMAN	Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA.	287					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycosaminoglycan biosynthetic process|xenobiotic metabolic process	cytosol	NAD binding|UDP-glucose 6-dehydrogenase activity|electron carrier activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GAGCCTCACAGAGATAAACCA	0.388000														21			22		0	0	0.005443	0	0
SACS	26278	broad.mit.edu	37	13	23910621	23910621	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:23910621G>A	uc001uon.2	-	9	7983	c.7394C>T	c.(7393-7395)tCg>tTg	p.S2465L	SACS_uc001uoo.2_Missense_Mutation_p.S2318L|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.	2465					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)		GTAGCATAACGATTTAGCAGG	0.353000														26			51		0	0	0.003610	0	0
KIAA1751	85452	broad.mit.edu	37	1	1905555	1905555	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:1905555C>T	uc001aim.1	-	6	739	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	KIAA1751_uc009vkz.1_Missense_Mutation_p.G195R	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	195								p.G195V(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGCCGCCGCCCCGTGGCCTCC	0.652000														26			11		0	0	0.002450	0	0
SLC13A3	64849	broad.mit.edu	37	20	45195020	45195020	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:45195020G>A	uc002xsf.2	-	10	1382	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	SLC13A3_uc010ghn.2_Silent_p.L417L|SLC13A3_uc010zxx.2_Silent_p.L350L|SLC13A3_uc010zxw.2_Silent_p.L398L|SLC13A3_uc002xsg.2_Silent_p.L401L|SLC13A3_uc010gho.2_Silent_p.L366L|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.L35L|SLC13A3_uc010zxv.2_Silent_p.L33L	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	448						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CATACAGACAGCCCCGATTCC	0.597000														90			19		0	0	0.001882	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982509	7982509	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:7982509G>A	uc010sgh.2	-	3	501	c.480C>T	c.(478-480)atC>atT	p.I160I	SLC2A14_uc001qtk.3_Silent_p.I145I|SLC2A14_uc001qtl.3_Silent_p.I122I|SLC2A14_uc001qtm.3_Silent_p.I122I|SLC2A14_uc010sgg.2_Silent_p.I36I|SLC2A14_uc001qtn.3_Silent_p.I145I|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	145					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGCGGCCCAGGATCAGCATTT	0.522000														16			33		0	0	0.002836	0	0
LIPI	149998	broad.mit.edu	37	21	15561462	15561462	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:15561462T>C	uc002yjm.3	-	1	398	c.388A>G	c.(388-390)Att>Gtt	p.I130V	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.I109V|LIPI_uc021whh.1_Missense_Mutation_p.I109V|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.I109V|LIPI_uc021whe.1_Missense_Mutation_p.I109V|LIPI_uc021whf.1_Missense_Mutation_p.I109V	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	109					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			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)		TCTACTACAATTACATTCATA	0.388000														25			39		0	0	0.004289	0	0
FOLR1	2348	broad.mit.edu	37	11	71907164	71907164	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:71907164G>A	uc001orz.2	+	5	993	c.717G>A	c.(715-717)tgG>tgA	p.W239*	FOLR1_uc001osa.2_Nonsense_Mutation_p.W239*|FOLR1_uc001osb.2_Nonsense_Mutation_p.W239*|FOLR1_uc001osd.2_Nonsense_Mutation_p.W239*	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	239					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CTGGGCCCTGGGCAGCCTGGC	0.607000														48			13		0	0	0.002450	0	0
FAT3	120114	broad.mit.edu	37	11	92087642	92087642	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:92087642C>T	uc001pdj.4	+	0	2381	c.2364C>T	c.(2362-2364)ccC>ccT	p.P788P		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	788	Cadherin 7.				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)				TCCTTATGCCCATGGATCGAG	0.408000										TCGA Ovarian(4;0.039)				254			368		0	0	0.003610	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	A	A	rs2821609	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:14414902G>A	uc002yiy.3	+	1		c.339G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CCAGCTTGACGTCCTTGATGG	0.443000														22			6		0	0	0.001984	0	0
SNX18	112574	broad.mit.edu	37	5	53814606	53814606	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:53814606C>A	uc003jpj.4	+	0	1014	c.824C>A	c.(823-825)cCg>cAg	p.P275Q	SNX18_uc011cqg.2_Missense_Mutation_p.P275Q|SNX18_uc003jpi.4_Missense_Mutation_p.P275Q	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	275					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AACCCCTACCCGTTCCAGTGC	0.637000														58			4		0.000602214	0.00117517	0.000602	1	0
GPR108	56927	broad.mit.edu	37	19	6733304	6733304	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:6733304G>A	uc002mfp.3	-	8	778	c.732C>T	c.(730-732)atC>atT	p.I244I	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	244						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TCTTCTCCCGGATCATCACCT	0.652000														42			10		0	0	0.000978	0	0
GRM7	2917	broad.mit.edu	37	3	7621009	7621009	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:7621009C>T	uc003bqm.2	+	7	2690	c.2416C>T	c.(2416-2418)Cca>Tca	p.P806S	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.P806S|GRM7_uc003bql.2_Missense_Mutation_p.P806S|GRM7_uc003bqn.1_Missense_Mutation_p.P389S|GRM7_uc010hch.1_Missense_Mutation_p.P317S	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	806					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	p.I805V(1)		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)	TGCCTTCATTCCAATTTTTTT	0.383000														9			20		0	0	0.000958	0	0
CACNG2	10369	broad.mit.edu	37	22	36960549	36960549	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:36960549C>T	uc003aps.2	-	3	890	c.821G>A	c.(820-822)aGc>aAc	p.S274N		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	274					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GGGGTCCCTGCTGAGCGTGTA	0.627000														85			34		0	0	0.005524	0	0
NBEA	26960	broad.mit.edu	37	13	35770382	35770382	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:35770382C>T	uc021rid.1	+	30	5843	c.5309C>T	c.(5308-5310)cCa>cTa	p.P1770L	NBEA_uc021ric.1_Missense_Mutation_p.P1767L|NBEA_uc010abi.3_Missense_Mutation_p.P426L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1770						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACCCAGATCCAGCATTGAAG	0.408000														19			21		0	0	0.001882	0	0
GRIA4	2893	broad.mit.edu	37	11	105769154	105769154	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:105769154G>A	uc001pix.2	+	7	1331	c.885_splice	c.e7+1	p.K295_splice	GRIA4_uc001piu.1_Splice_Site_p.K295_splice|GRIA4_uc001piw.2_Splice_Site_p.K295_splice|GRIA4_uc009yxk.1_Splice_Site_p.K295_splice	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	295					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCCTCCAAAGGTATTTGTTTA	0.318000														17			20		0	0	0.001523	0	0
SETBP1	26040	broad.mit.edu	37	18	42531573	42531573	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:42531573G>A	uc010dni.3	+	3	2564	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	756						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTAGCCAGCCGGATGTTCCAG	0.567000									Schinzel-Giedion syndrome					51			17		0	0	0.000958	0	0
UNC13C	440279	broad.mit.edu	37	15	54306885	54306885	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:54306885G>A	uc021smr.1	+	0	1785	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A	UNC13C_uc021sms.1_Silent_p.A595A	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	595					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.A595A(3)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGGAACAGCGACCCTGTATG	0.458000														47			41		0	0	0.001287	0	0
CNGA2	1260	broad.mit.edu	37	X	150912737	150912737	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:150912737G>A	uc004fey.1	+	6	1986	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	588					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGAGAACGAAGTGGCAAC	0.547000														7			34		0	0	0.002836	0	0
PREX1	57580	broad.mit.edu	37	20	47292788	47292788	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:47292788C>T	uc002xtw.1	-	13	1631	c.1608G>A	c.(1606-1608)ctG>ctA	p.L536L		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	536	DEP 2.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGTAGGTCTTCAGGTGGTAAT	0.617000														90			29		0	0	0.001061	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884076	19884076	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:19884076G>A	uc010vav.2	-	1	401	c.170C>T	c.(169-171)gCc>gTc	p.A57V	GPRC5B_uc021tef.1_Missense_Mutation_p.A23V|GPRC5B_uc002dgt.3_Missense_Mutation_p.A31V	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	31										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGATGTGCTGGCGTTTTCAGA	0.597000														38			25		0	0	0.002780	0	0
PLB1	151056	broad.mit.edu	37	2	28824165	28824165	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:28824165G>A	uc002rmb.2	+	36	2617	c.2573G>A	c.(2572-2574)gGa>gAa	p.G858E	PLB1_uc010ezj.2_Missense_Mutation_p.G847E|PLB1_uc002rme.2_5'Flank	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	858	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTGCTGATCGGAGGCAGCGAT	0.443000														12			15		0	0	0.000958	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315096	30315096	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:30315096C>T	uc009xle.2	-	2	4118	c.3981G>A	c.(3979-3981)agG>agA	p.R1327R	KIAA1462_uc001iux.3_Silent_p.R1327R|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.R1189R	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1327										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						CCTTCTCTTCCCTGGAGATGC	0.597000														51			34		0	0	0.003755	0	0
TNN	63923	broad.mit.edu	37	1	175052934	175052934	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:175052934C>T	uc001gkl.1	+	4	1210	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	TNN_uc010pmx.1_Missense_Mutation_p.S366F	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	366	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACTGAGAACTCCCTTGACGTG	0.567000														56			21		0	0	0.003330	0	0
PTPRT	11122	broad.mit.edu	37	20	40877449	40877449	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:40877449C>T	uc002xkg.3	-	13	2374	c.2190G>A	c.(2188-2190)caG>caA	p.Q730Q	PTPRT_uc010ggj.3_Silent_p.Q749Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	730					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)				TGTTAGAATTCTGGGTGGAGG	0.502000														20			15		0	0	0.002450	0	0
COL4A2	1284	broad.mit.edu	37	13	111109756	111109756	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:111109756G>A	uc001vqx.3	+	20	1695	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	469	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.P468S(1)		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)			GGCTCCCCTGGAGCCCGCGGA	0.577000														22			4		0	0	0.000248	0	0
FAM26E	254228	broad.mit.edu	37	6	116836995	116836995	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:116836995C>T	uc003pwy.3	+	1	825	c.773C>T	c.(772-774)aCg>aTg	p.T258M	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	258						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CCCATGCCTACGTTTGCTGCC	0.478000														31			25		0	0	0.003954	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242255	87242255	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:87242255G>A	uc003ydq.1	-	0	350	c.252C>T	c.(250-252)ctC>ctT	p.L84L	SLC7A13_uc003ydr.1_Silent_p.L84L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	84						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGTATCTCTTGAGAAAATAGT	0.488000														25			15		0	0	0.004007	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180532	142180532	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:142180532G>A	uc011krz.2	-	1	376	c.327C>T	c.(325-327)ttC>ttT	p.F109F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.F109F|BV13S6J2.1_uc022anl.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TGCTGGCACAGAAGTACACAG	0.572000														168			157		0	0	0.003610	0	0
ZNF385D	79750	broad.mit.edu	37	3	21465518	21465518	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:21465518C>T	uc003cce.3	-	6	1299	c.891G>A	c.(889-891)ggG>ggA	p.G297G		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	297						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TCGGGGGCTTCCCAGCAGCTC	0.413000														97			39		0	0	0.001951	0	0
TACC2	10579	broad.mit.edu	37	10	123845215	123845215	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:123845215G>A	uc001lfv.3	+	3	3560	c.3200G>A	c.(3199-3201)aGc>aAc	p.S1067N	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.S1067N|TACC2_uc010qtv.2_Missense_Mutation_p.S1067N	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1067						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)				GCGCCCGCCAGCCCCGGAGTC	0.637000														5			29		0	0	0.001061	0	0
ACSL6	23305	broad.mit.edu	37	5	131303677	131303677	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:131303677C>G	uc003kvx.2	-	15	1661	c.1552G>C	c.(1552-1554)Gat>Cat	p.D518H	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.D483H|ACSL6_uc003kvy.2_Missense_Mutation_p.D518H|ACSL6_uc003kvz.2_Missense_Mutation_p.D418H|ACSL6_uc021ydh.1_Missense_Mutation_p.D418H|ACSL6_uc010jdo.2_Missense_Mutation_p.D493H|ACSL6_uc003kwa.2_Missense_Mutation_p.D504H|ACSL6_uc003kvw.2_Missense_Mutation_p.D139H|ACSL6_uc010jdn.2_Missense_Mutation_p.D508H	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	493					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTCAACATCAACGAGCTTG	0.483000														48			37		0	0	0.003610	0	0
CTSL2	1515	broad.mit.edu	37	9	99795232	99795232	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:99795232C>T	uc010msi.3	-	7	1211	c.1004G>A	c.(1003-1005)tGa>tAa	p.*335*	CTSL2_uc004awt.3_Silent_p.*335*|CTSL2_uc004awu.3_Silent_p.*280*	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	0						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				TCCATCAGCTCACACATTGGG	0.468000														5			37		0	0	0.004878	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256039	140256039	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:140256039C>T	uc003lic.2	+	0	1109	c.982C>T	c.(982-984)Cct>Tct	p.P328S	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_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.P328S	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	343	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)			TAAAGGGATTCCTTCCATGGC	0.423000														5			52		0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883273	131883273	+	Silent	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:131883273A>T	uc003vra.4	-	12	2938	c.2709T>A	c.(2707-2709)ccT>ccA	p.P903P		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	903	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCCACTAAAGGGCTGCACT	0.562000														63			15		0	0	0.003163	0	0
CAPN13	92291	broad.mit.edu	37	2	30993196	30993196	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:30993196C>T	uc021vfn.1	-	3	539	c.507G>A	c.(505-507)ctG>ctA	p.L169L	CAPN13_uc021vfm.1_Silent_p.L169L|CAPN13_uc002rnp.1_Silent_p.L169L	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	169	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGCCTTCTCCAGCAGGCAGG	0.567000														24			35		0	0	0.004289	0	0
DKK4	27121	broad.mit.edu	37	8	42232279	42232279	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:42232279C>T	uc003xpb.3	-	3	526	c.415_splice	c.e3+1	p.G139_splice		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	139					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTGTTCTTACCCTTCCTGCCT	0.443000														179			43		0	0	0.002852	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236585	140236585	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:140236585C>T	uc003lhx.2	+	0	952	c.952C>T	c.(952-954)Cat>Tat	p.H318Y	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_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.H318Y|PCDHAC2_uc011dad.2_Missense_Mutation_p.H318Y	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	334	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)			TTATGAAATTCATGTAGATGT	0.398000														4			34		0	0	0.004289	0	0
DNAH5	1767	broad.mit.edu	37	5	13842003	13842003	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:13842003C>T	uc003jfd.2	-	32	5324	c.5282G>A	c.(5281-5283)cGa>cAa	p.R1761Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1761	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)					TGACAGAATTCGATCATAGAT	0.328000									Kartagener syndrome					22			20		0	0	0.001523	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127827	117127827	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:117127827G>A	uc003pxj.1	-	2	1063	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Silent_p.P347P	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	347					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)		GACTGTCACTGGGAAGCAAGT	0.383000														7			46		0	0	0.003214	0	0
COL25A1	84570	broad.mit.edu	37	4	109769920	109769920	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:109769920C>T	uc021xqo.1	-	25	1485	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	COL25A1_uc003hze.1_Missense_Mutation_p.E477K|COL25A1_uc021xqp.1_Missense_Mutation_p.E477K|COL25A1_uc003hzg.3_Missense_Mutation_p.E477K|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.E235K	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	477	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.E477E(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATTACCTGCTCTCCATCCATT	0.353000														54			20		0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179536884	179536884	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179536884C>T	uc021vsy.1	-	149	31363	c.31138G>A	c.(31138-31140)Gaa>Aaa	p.E10380K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E7041K|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11307	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)			AACtcttcttcttccggaatt	0.353000														11			7		0	0	0.001984	0	0
RBM14	10432	broad.mit.edu	37	11	66392297	66392297	+	Missense_Mutation	SNP	C	T	T	rs141633741	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:66392297C>T	uc001oit.3	+	1	1089	c.950C>T	c.(949-951)tCc>tTc	p.S317F	RBM14_uc009yri.3_Intron|RBM14_uc009yrh.3_Intron|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_5'Flank	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA.	317	Ala-rich.|TRBP-interacting domain.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCCTTTCCTCCTATGGGGGT	0.617000														22			20		0	0	0.001523	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534946	96534946	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:96534946C>T	uc010qnz.2	+	1	300	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Silent_p.F78F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	100					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.F100C(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGGCCATTTCCCACTGGCTG	0.498000														47			32		0	0	0.003271	0	0
ENPEP	2028	broad.mit.edu	37	4	111397845	111397845	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:111397845G>A	uc003iab.4	+	0	617	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	92					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAAAACTTTCGACTGCCGGAC	0.612000														29			51		0	0	0.003610	0	0
SPO11	23626	broad.mit.edu	37	20	55918436	55918436	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:55918436C>T	uc002xye.3	+	12	1204	c.1111C>T	c.(1111-1113)Caa>Taa	p.Q371*	MIR5095_uc021wfc.1_Intron|SPO11_uc002xyf.3_Nonsense_Mutation_p.Q333*	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	371					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GGCAGAAATTCAAGCTTTGAC	0.313000								Editing and processing nucleases						86			32		0	0	0.002445	0	0
MUC16	94025	broad.mit.edu	37	19	9006363	9006363	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9006363A>G	uc002mkp.3	-	44	39859	c.39655T>C	c.(39655-39657)Tgc>Cgc	p.C13219R	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.C36R|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13221	SEA 8.				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						GTCAGTCTGCAGCCAGAATAC	0.522000														92			16		0	0	0.001523	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192854	132192854	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:132192854G>A	uc003vra.4	-	1	828	c.599C>T	c.(598-600)tCc>tTc	p.S200F	PLXNA4_uc003vrc.2_Missense_Mutation_p.S200F|PLXNA4_uc003vrb.3_Missense_Mutation_p.S200F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	200	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTTCCGGCTGGAGATGGTGGG	0.537000														123			29		0	0	0.001512	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648742	41648742	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:41648742C>T	uc003gvz.4	+	16	3069	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	LIMCH1_uc003gwe.4_Silent_p.F499F|LIMCH1_uc003gvu.4_Silent_p.F499F|LIMCH1_uc003gvv.4_Silent_p.F499F|LIMCH1_uc003gvw.4_Silent_p.F499F|LIMCH1_uc003gvx.4_Silent_p.F487F|LIMCH1_uc003gvy.4_Silent_p.F328F|LIMCH1_uc003gwa.4_Silent_p.F340F|LIMCH1_uc011byu.2_Silent_p.F333F|LIMCH1_uc003gwc.4_Silent_p.F345F|LIMCH1_uc003gwd.4_Silent_p.F333F|LIMCH1_uc011byv.2_Silent_p.F250F	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	499					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACCCAAATTCACTGCCACTG	0.502000														102			175		0	0	0.003610	0	0
NFE2	4778	broad.mit.edu	37	12	54687052	54687052	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:54687052G>A	uc009znk.3	-	1	738	c.228C>T	c.(226-228)ttC>ttT	p.F76F	NFE2_uc001sfq.3_Silent_p.F76F|NFE2_uc001sfr.4_Silent_p.F76F|NFE2_uc009znl.3_Silent_p.F76F	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	76	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GAGGAAGTGGGAAGCCAGAAT	0.562000														86			33		0	0	0.003755	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049813	69049814	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:69049813_69049814GG>AA	uc010fdg.3	+	9	1961_1962	c.1542_1543GG>AA	c.(1540-1545)ggggag>ggAAag	p.E515K	ARHGAP25_uc010yql.2_Missense_Mutation_p.E475K|ARHGAP25_uc002sew.3_Missense_Mutation_p.E507K|ARHGAP25_uc002sex.3_Missense_Mutation_p.E508K	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	514					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGTCCCCTGGGGAGGAAGCCAG	0.545000														85			26		0	0	0.004672	0	0
C2orf78	388960	broad.mit.edu	37	2	74043731	74043731	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:74043731C>T	uc002sjr.1	+	2	2502	c.2381C>T	c.(2380-2382)cCc>cTc	p.P794L		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	794										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						gcaacccaacccagttcagcc	0.527000														3			10		0	0	0.000443	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856002	12856002	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:12856002G>A	uc001auj.2	+	3	1385	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	428										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)		TGTCAATTGGGAGATCTTCAC	0.572000														292			11		0	0	0.001216	0	0
PARP15	165631	broad.mit.edu	37	3	122335962	122335962	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:122335962G>A	uc003efm.2	+	5	1017	c.951G>A	c.(949-951)caG>caA	p.Q317Q	PARP15_uc003efn.2_Silent_p.Q191Q|PARP15_uc003efo.1_Silent_p.Q64Q|PARP15_uc003efp.1_Silent_p.Q83Q|PARP15_uc011bjt.1_Silent_p.Q83Q	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	295	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CCACTGAACAGGTAGATGTTA	0.358000														39			59		0	0	0.003610	0	0
C12orf51	283450	broad.mit.edu	37	12	112669444	112669444	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:112669444G>A	uc021reb.1	-	38	6067	c.5671C>T	c.(5671-5673)Ctc>Ttc	p.L1891F		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGACGATGAGGCCTGACTGT	0.547000														26			27		0	0	0.001271	0	0
OR8D2	283160	broad.mit.edu	37	11	124189174	124189174	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:124189174C>T	uc010sah.2	-	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R306S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TGACTGCCTTCCCCTAGTCAT	0.398000														64			26		0	0	0.003954	0	0
SCN11A	11280	broad.mit.edu	37	3	38950535	38950535	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:38950535C>T	uc021wvy.1	-	8	1451	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	418					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AACATCTTTTCCTTGGCCTCT	0.512000														138			39		0	0	0.002522	0	0
VWC2L	402117	broad.mit.edu	37	2	215440482	215440482	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:215440482G>T	uc002vet.2	+	3	737	c.607G>T	c.(607-609)Ggg>Tgg	p.G203W	VWC2L_uc010zjl.1_3'UTR	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	203						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGTCACAACGGGGACTGGTG	0.473000														164			6		0.00198382	0.00385954	0.001984	1	0
SMARCA2	6595	broad.mit.edu	37	9	2029165	2029165	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:2029165C>T	uc003zhc.3	+	1	242	c.143C>T	c.(142-144)cCt>cTt	p.P48L	SMARCA2_uc003zhd.3_Missense_Mutation_p.P48L|SMARCA2_uc010mha.3_Missense_Mutation_p.P39L	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.	48					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)		GGGCCAAGTCCTGGACCTCCA	0.592000														8			5		0	0	0.000602	0	0
ALOX12	239	broad.mit.edu	37	17	6909835	6909835	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:6909835C>T	uc002gdx.4	+	10	1502	c.1449C>T	c.(1447-1449)taC>taT	p.Y483Y	LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Intron|ALOX12_uc002gdz.4_5'Flank	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	483	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ACCTCTTCTACCAAAGGGATG	0.607000														56			27		0	0	0.005443	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768016	31768016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:31768016G>A	uc002nsy.4	-	1	2748	c.2683C>T	c.(2683-2685)Cag>Tag	p.Q895*		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	895					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)					CAGTTTGACTGGCGGCCCTTC	0.612000														47			16		0	0	0.003163	0	0
STL	7955	broad.mit.edu	37	6	125233505	125233505	+	RNA	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:125233505T>C	uc003pzq.3	-	6		c.1229A>G								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		CTTCATAATCTTAAAACATAA	0.373000			T	ETV6	B-ALL									17			87		0	0	0.003610	0	0
ZNF451	26036	broad.mit.edu	37	6	56997896	56997896	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:56997896C>T	uc003pdm.1	+	5	705	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	ZNF451_uc003pdl.3_Missense_Mutation_p.H161Y|ZNF451_uc003pdn.1_Missense_Mutation_p.H161Y|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.H161Y	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGAGGAGGCCACACGTGGGT	0.388000														62			25		0	0	0.003954	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600986	161600986	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:161600986C>T	uc009wul.3	-	0	267	c.7G>A	c.(7-9)Gga>Aga	p.G3R	FCGR3B_uc021pdo.1_Intron	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAGTCCCTCCACCCATCTCT	0.502000														11			15		0	0	0.002450	0	0
ANXA2	302	broad.mit.edu	37	9	33624716	33624716	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:33624716G>A	uc010mjx.3	+	0	494	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	149					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	AGTCTACAAGGAAATGTACAA	0.493000											OREG0019140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			33		0	0	0.002836	0	0
DPEP3	64180	broad.mit.edu	37	16	68014054	68014054	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:68014054G>A	uc002evc.4	-	0	399	c.305C>T	c.(304-306)aCc>aTc	p.T102I	DPEP3_uc010cex.3_Missense_Mutation_p.T102I	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	77					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AAGGTCCAGGGTTTTGGGGGT	0.682000														55			13		0	0	0.004007	0	0
MLL3	58508	broad.mit.edu	37	7	151860685	151860685	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:151860685G>A	uc003wla.3	-	42	10196	c.9977C>T	c.(9976-9978)cCt>cTt	p.P3326L	MLL3_uc003wkz.3_Missense_Mutation_p.P2387L|MLL3_uc003wky.3_Missense_Mutation_p.P835L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3326	Gln-rich.|Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CATTCTAACAGGGCTAGTATG	0.557000			N		medulloblastoma									22			23		0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	9060965	9060965	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9060965C>T	uc002mkp.3	-	2	26685	c.26481G>A	c.(26479-26481)ggG>ggA	p.G8827G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8829	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						GAGTGGTCATCCCTGAGTGTG	0.537000														90			28		0	0	0.005443	0	0
ME3	10873	broad.mit.edu	37	11	86158197	86158197	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:86158197G>A	uc001pbz.3	-	10	1544	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A	ME3_uc001pca.3_Silent_p.A430A|ME3_uc009yvk.3_Silent_p.A430A	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	430					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CGTGGAAGGAGGCCATGTCCC	0.602000														46			19		0	0	0.000958	0	0
TRPV6	55503	broad.mit.edu	37	7	142575478	142575478	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:142575478A>C	uc003wbx.2	-	2	504	c.275T>G	c.(274-276)cTg>cGg	p.L92R	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	92					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCGGCCTCCAGGTTGTCATA	0.587000														120			29		0	0	0.001512	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290827	20290827	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:20290827G>A	uc001iqg.1	+	1	873	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	PLXDC2_uc001iqh.1_Missense_Mutation_p.R79Q	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	79						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GACACGAACCGAGCAAGCGTC	0.527000														6			27		0	0	0.001271	0	0
SCARA5	286133	broad.mit.edu	37	8	27779295	27779295	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:27779295C>T	uc003xgj.3	-	3	1320	c.709G>A	c.(709-711)Gac>Aac	p.D237N	SCARA5_uc010luz.3_Intron|SCARA5_uc003xgk.3_Missense_Mutation_p.D194N|SCARA5_uc003xgl.3_Missense_Mutation_p.D237N	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	237					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AGGGCCACGTCGTAGGACAGG	0.741000														1			3		0	0	0.000248	0	0
SEMA6A	57556	broad.mit.edu	37	5	115837929	115837929	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:115837929G>C	uc003krx.4	-	2	904	c.195C>G	c.(193-195)aaC>aaG	p.N65K	SEMA6A_uc010jck.3_Missense_Mutation_p.N65K	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	65	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGAGGGTTCCGTTCATGATCA	0.488000														97			30		0	0	0.002445	0	0
AGBL5	60509	broad.mit.edu	37	2	27278044	27278044	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:27278044C>T	uc002rie.3	+	5	1048	c.831C>T	c.(829-831)gcC>gcT	p.A277A	AGBL5_uc002rid.3_Silent_p.A277A|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	277					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCCGGGCCCAAACCCTCC	0.542000														38			63		0	0	0.003610	0	0
GFRAL	389400	broad.mit.edu	37	6	55214901	55214901	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:55214901G>A	uc003pcm.1	+	3	414	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	110						integral to membrane	receptor activity	p.E110D(1)		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)			TAACGTGAAAGAGGATAAATT	0.289000														45			14		0	0	0.004990	0	0
SLC26A8	116369	broad.mit.edu	37	6	35943221	35943221	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:35943221G>A	uc003olm.3	-	9	1329	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	SLC26A8_uc003oll.3_Silent_p.F301F|SLC26A8_uc003oln.3_Silent_p.F406F	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	406					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CACAAGATCTGAAAAATGAAC	0.383000														27			13		0	0	0.003163	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820703	35820703	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:35820703G>A	uc010ngt.1	+	1	669	c.390G>A	c.(388-390)atG>atA	p.M130I	MAGEB16_uc022bus.1_Missense_Mutation_p.M130I	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	130	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTGTCAGATGAAAAAGCCAA	0.458000														7			9		0	0	0.000673	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253710	32253710	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:32253710G>A	uc002yov.3	-	0	165	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	45						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTCTGGAAGGAACTGGGCAA	0.582000														7			52		0	0	0.003610	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525646	150525646	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:150525646G>A	uc009wlw.3	+	3	509	c.351G>A	c.(349-351)caG>caA	p.Q117Q	ADAMTSL4_uc001euw.3_Silent_p.Q117Q|ADAMTSL4_uc001eux.3_Silent_p.Q117Q|ADAMTSL4_uc010pcg.2_Silent_p.Q117Q	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	117					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACAGGACACAGTCTCGGGGAA	0.667000														87			21		0	0	0.002780	0	0
ABCA4	24	broad.mit.edu	37	1	94544152	94544152	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:94544152C>T	uc001dqh.3	-	9	1454	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	ABCA4_uc010otn.1_Missense_Mutation_p.M450I	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	450					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTACTCTGATCATGTTCATCT	0.502000														135			54		0	0	0.003610	0	0
NCF4	4689	broad.mit.edu	37	22	37271732	37271732	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:37271732C>T	uc003apy.4	+	7	849	c.665C>T	c.(664-666)tCc>tTc	p.S222F	NCF4_uc003apz.4_Missense_Mutation_p.S222F	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	222	SH3.				cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TTCCCTCTCTCCTTCGTGAAG	0.582000														8			65		0	0	0.003610	0	0
PRKCA	5578	broad.mit.edu	37	17	64785059	64785059	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:64785059G>A	uc002jfp.1	+	15	1860	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K		NM_002737	NP_002728	P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	606	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGAAAAACTGGAGAACAGGGA	0.567000														40			17		0	0	0.001216	0	0
OR52D1	390066	broad.mit.edu	37	11	5510270	5510270	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:5510270G>A	uc010qzg.2	+	0	356	c.334G>A	c.(334-336)Gct>Act	p.A112T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTATCTATGCTCTGGAGTC	0.473000														69			32		0	0	0.002836	0	0
LOC150776	150776	broad.mit.edu	37	2	132266141	132266141	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:132266141C>T	uc010fna.3	+	1	360	c.20C>T	c.(19-21)tCg>tTg	p.S7L	LOC150776_uc010zax.1_Non-coding_Transcript|LOC150776_uc010zay.1_Non-coding_Transcript|LOC150776_uc010zaz.1_Non-coding_Transcript|LOC150776_uc002tsy.3_Non-coding_Transcript					Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane pseudogene (LOC150776), non-coding RNA.																		CATCACTATTCGTTGGAGATG	0.458000														14			20		0	0	0.003330	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70674000	70674000	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:70674000C>T	uc003xyl.3	-	2	1725	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	SLCO5A1_uc010lzb.3_Missense_Mutation_p.D340N|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.D340N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D340N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	340						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAACGAGGGTCATTCTGGTCA	0.353000														34			44		0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109688951	109688951	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:109688951C>T	uc004bcz.3	+	2	3047	c.2758C>T	c.(2758-2760)Cac>Tac	p.H920Y	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.H768Y|ZNF462_uc004bda.3_Missense_Mutation_p.H768Y	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	920					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAACTTTGATCACTCGGACCT	0.488000														8			71		0	0	0.003610	0	0
LPAR4	2846	broad.mit.edu	37	X	78010794	78010794	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:78010794C>T	uc022bzj.1	+	0	428	c.428C>T	c.(427-429)cCt>cTt	p.P143L	LPAR4_uc010nme.3_Missense_Mutation_p.P143L	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	143						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.P143H(2)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATTGTCTATCCTTTTCGATCT	0.463000														4			42		0	0	0.002522	0	0
PRSS50	29122	broad.mit.edu	37	3	46754496	46754496	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:46754496C>T	uc003cqe.1	-	4	1298	c.816G>A	c.(814-816)gaG>gaA	p.E272E	PRSS50_uc021wxe.1_Silent_p.E272E|PRSS50_uc003cqf.2_Silent_p.E186E	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	272	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						AATTGTCACACTCTTTGTTGT	0.522000														142			56		0	0	0.003610	0	0
PDZD3	79849	broad.mit.edu	37	11	119059239	119059239	+	Silent	SNP	G	A	A	rs12292621		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:119059239G>A	uc001pwb.3	+	5	1760	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E	PDZD3_uc001pvz.3_Silent_p.E346E|PDZD3_uc010rzd.2_Silent_p.E333E|PDZD3_uc001pvy.3_Silent_p.E332E|PDZD3_uc001pwa.3_Silent_p.E42E			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	412	PDZ 3.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCGACCCTGAGGCGGACCGCT	0.662000														23			8		0	0	0.003080	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790578	133790578	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:133790578C>T	uc001qgx.4	-	17	3273	c.3042G>A	c.(3040-3042)gaG>gaA	p.E1014E		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1014	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCCATTCTCCTCGGGGATGG	0.667000														56			24		0	0	0.002299	0	0
FGA	2243	broad.mit.edu	37	4	155507658	155507658	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:155507658C>T	uc003iod.1	-	4	981	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	FGA_uc003ioe.1_Missense_Mutation_p.R308Q|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	308					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R308Q(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCAGGGTTTCGGTTTCCAGT	0.572000														29			66		0	0	0.003610	0	0
STXBP5	134957	broad.mit.edu	37	6	147525714	147525714	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:147525714G>A	uc003qlz.3	+	0	221	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	LOC729178_uc003qlt.2_Non-coding_Transcript|LOC729178_uc003qlu.1_Non-coding_Transcript|STXBP5_uc010khz.2_Missense_Mutation_p.G16S|STXBP5_uc003qly.3_5'Flank	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	16					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CCTGACCGCCGGCTCGTCCTC	0.677000														3			20		0	0	0.001523	0	0
PRMT3	10196	broad.mit.edu	37	11	20486071	20486071	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:20486071C>T	uc001mqb.3	+	12	1543	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	PRMT3_uc001mqc.3_Silent_p.I365I|PRMT3_uc010rdn.2_Silent_p.I380I	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	442							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CCCTGAAAATCACAAGGACAT	0.378000														26			42		0	0	0.003214	0	0
PREX1	57580	broad.mit.edu	37	20	47267558	47267558	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:47267558G>A	uc002xtw.1	-	22	2714	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	PREX1_uc002xtv.1_Silent_p.F194F	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	897					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.F897F(3)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTTCTCCACGAAGACGCTGT	0.557000														52			9		0	0	0.000443	0	0
ACSM1	116285	broad.mit.edu	37	16	20634825	20634825	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:20634825C>T	uc002dhm.1	-	12	1785	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.E573K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	573					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGACCAGTCTCCTTTTTCCGA	0.493000														37			54		0	0	0.003610	0	0
COL24A1	255631	broad.mit.edu	37	1	86591268	86591268	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:86591268C>T	uc001dlj.3	-	2	826	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.E251K	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	251					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATGCTTGTTTCAGGTTGGTAT	0.418000														54			26		0	0	0.002096	0	0
UGT1A1	54658	broad.mit.edu	37	2	234681160	234681160	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:234681160G>A	uc002vuw.3	+	4	1560	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	UGT1A1_uc002vup.3_Silent_p.G516G|UGT1A1_uc002vur.3_Silent_p.G516G|UGT1A1_uc002vus.3_Silent_p.G516G|UGT1A1_uc002vut.3_Silent_p.G516G|UGT1A1_uc002vuu.3_Silent_p.G251G|UGT1A1_uc002vuv.4_Silent_p.G518G|UGT1A1_uc002vux.3_Silent_p.G520G|UGT1A1_uc002vuy.3_Silent_p.G520G|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Silent_p.G519G	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	519					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)	AATGCTTGGGGAAAAAAGGGC	0.453000														33			12		0	0	0.000978	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:108672495C>T	uc003dxj.2	-	0	183	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_uc003dxk.2_Missense_Mutation_p.E39K	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000														48			69		0	0	0.003610	0	0
SEL1L3	23231	broad.mit.edu	37	4	25789957	25789957	+	Silent	SNP	C	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:25789957C>G	uc003gru.4	-	12	2258	c.2106G>C	c.(2104-2106)ggG>ggC	p.G702G	SEL1L3_uc003grv.3_Silent_p.G109G	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	702						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CACCTTGCTGCCCCCAGAACA	0.468000														59			29		0	0	0.001271	0	0
C3	718	broad.mit.edu	37	19	6711045	6711045	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:6711045G>A	uc002mfm.3	-	11	1494	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	478					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGGTCCATTCGCAGGAGGAAG	0.602000														194			35		0	0	0.001485	0	0
ITCH	83737	broad.mit.edu	37	20	33033181	33033181	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:33033181C>T	uc010geu.1	+	11	1370	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	ITCH_uc002xak.2_Missense_Mutation_p.S352F|ITCH_uc010zuj.1_Missense_Mutation_p.S242F	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	393					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACACTGGAATCCGTCCGGAAC	0.473000														70			21		0	0	0.001216	0	0
OR2M3	127062	broad.mit.edu	37	1	248366997	248366997	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248366997C>T	uc010pzg.2	+	0	628	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	210					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)			GATTGTTTTCCCTGTTGCAAT	0.423000														330			75		0	0	0.003610	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498292	73498292	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:73498292C>T	uc002joc.3	-	17	3413	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	CASKIN2_uc010wsc.2_Missense_Mutation_p.E873K	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	955	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTTCCCTTCCTCTGCAAAC	0.697000														48			19		0	0	0.001216	0	0
DIP2B	57609	broad.mit.edu	37	12	51108322	51108322	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:51108322C>T	uc001rwv.3	+	22	2950	c.2794C>T	c.(2794-2796)Ctc>Ttc	p.L932F	DIP2B_uc009zlt.3_Missense_Mutation_p.L362F	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	932						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTGCAACATCCTCATGTGCCC	0.468000														28			33		0	0	0.002836	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049243	36049243	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:36049243G>A	uc003jjz.2	-	3	723	c.591C>T	c.(589-591)ttC>ttT	p.F197F	UGT3A2_uc011cos.2_Silent_p.F163F|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	197						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCGGCCCCAGAAGTCCATGT	0.448000														46			25		0	0	0.003954	0	0
ADAM18	8749	broad.mit.edu	37	8	39468212	39468212	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:39468212C>T	uc003xni.3	+	5	564	c.509C>T	c.(508-510)cCt>cTt	p.P170L	ADAM18_uc003xnh.3_Missense_Mutation_p.P170L|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.P170L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	170					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.P170S(2)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TACAAAGTTCCTTTAAACTCA	0.328000														34			15		0	0	0.004007	0	0
LINC00477	144360	broad.mit.edu	37	12	24736954	24736954	+	RNA	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:24736954G>A	uc001rgb.1	-	0		c.149C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		GCTCTGCAAAGGAAGAAAAAG	0.488000														59			26		0	0	0.001061	0	0
DSCAML1	57453	broad.mit.edu	37	11	117667821	117667821	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:117667821G>A	uc001prh.1	-	0	156	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	DSCAML1_uc001pri.1_Intron	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	0	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATTCTCCGGGGAGGTGGTCCT	0.687000														6			18		0	0	0.001882	0	0
TACR1	6869	broad.mit.edu	37	2	75276617	75276617	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:75276617C>T	uc002sng.2	-	4	1751	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q		NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	389					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGTCACTTCGTGAAGAGCA	0.617000														56			82		0	0	0.003610	0	0
NLRP6	171389	broad.mit.edu	37	11	281032	281033	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:281032_281033CC>TT	uc010qvs.2	+	3	1298_1299	c.1298_1299CC>TT	c.(1297-1299)gcc>gTT	p.A433V	NLRP6_uc010qvt.2_Missense_Mutation_p.A433V	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	433	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTCCGGTAGCCGACGGGCCCC	0.673000														44			85		0	0	0.004672	0	0
TPO	7173	broad.mit.edu	37	2	1440129	1440129	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:1440129G>A	uc002qwr.3	+	4	541	c.455G>A	c.(454-456)aGg>aAg	p.R152K	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.R152K|TPO_uc002qww.3_Missense_Mutation_p.R152K|TPO_uc002qwx.3_Missense_Mutation_p.R152K|TPO_uc002qwu.3_Missense_Mutation_p.R152K|TPO_uc010yio.2_Missense_Mutation_p.R152K|TPO_uc010yip.2_Missense_Mutation_p.R152K	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	152					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	p.R152S(2)		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)	AACAAATACAGGCCCATCACA	0.443000														40			20		0	0	0.001882	0	0
DPPA2	151871	broad.mit.edu	37	3	109023372	109023372	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:109023372G>A	uc003dxo.3	-	6	1051	c.804C>T	c.(802-804)ttC>ttT	p.F268F		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	268						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGGATGGGAAAATGCAGG	0.478000														52			17		0	0	0.004007	0	0
PATE1	160065	broad.mit.edu	37	11	125617706	125617706	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:125617706G>A	uc001qct.3	+	3	248	c.236G>A	c.(235-237)aGg>aAg	p.R79K	PATE1_uc009zbr.3_Missense_Mutation_p.R67K	NM_138294	NP_612151	Q8WXA2	PATE1_HUMAN	Homo sapiens prostate and testis expressed 1 (PATE1), mRNA.	79						extracellular region				large_intestine(1)|lung(5)	6						ATGGTTGGAAGGATGTTCAAA	0.493000														61			17		0	0	0.000958	0	0
EZH2	2146	broad.mit.edu	37	7	148544380	148544381	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:148544380_148544381GT>AG	uc003wfd.2	-	1	203_204	c.10_11AC>CT	c.(10-12)act>CTt	p.T4L	EZH2_uc022aov.1_Missense_Mutation_p.T4L|EZH2_uc011kug.2_Missense_Mutation_p.T4L|EZH2_uc003wfb.2_Missense_Mutation_p.T4L|EZH2_uc003wfc.2_Missense_Mutation_p.T4L|EZH2_uc011kuh.2_Missense_Mutation_p.T4L|EZH2_uc011kui.2_Missense_Mutation_p.T4L|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	4	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTTCTTCCCAGTCTGGCCCATG	0.421000			Mis		DLBCL									178			112		0	0	0.004672	0	0
NLRP13	126204	broad.mit.edu	37	19	56413465	56413465	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:56413465C>T	uc010ygg.2	-	8	2750	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	909							ATP binding	p.R908G(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACTCCCTCGTCTCTCAGGCTG	0.552000														63			11		0	0	0.000673	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062262	76062262	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:76062262A>C	uc001oxh.1	-	4	1932	c.1932T>G	c.(1930-1932)tgT>tgG	p.C644W	PRKRIR_uc021qnn.1_Missense_Mutation_p.C469W|PRKRIR_uc010rrz.1_Missense_Mutation_p.C469W	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	644					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGATTCTCCAACAATGAAGCT	0.453000														103			30		0	0	0.002836	0	0
GALNT14	79623	broad.mit.edu	37	2	31133871	31133871	+	Missense_Mutation	SNP	C	T	T	rs150328877		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:31133871C>T	uc002rns.3	-	15	2210	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	GALNT14_uc002rnq.3_Missense_Mutation_p.D499N|GALNT14_uc010ymr.2_Missense_Mutation_p.D484N|GALNT14_uc002rnr.3_Missense_Mutation_p.D519N	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.	519	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)					ATATCTGTATCGAGGCAGAGG	0.507000														42			50		0	0	0.003610	0	0
NFASC	23114	broad.mit.edu	37	1	204943936	204943936	+	Missense_Mutation	SNP	C	T	T	rs149731085		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:204943936C>T	uc010prc.2	+	12	1773	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	NFASC_uc001hbh.3_Missense_Mutation_p.R515C|NFASC_uc010pqz.2_Missense_Mutation_p.R509C|NFASC_uc001hbj.3_Missense_Mutation_p.R515C|NFASC_uc010pra.2_Missense_Mutation_p.R526C|NFASC_uc001hbi.3_Missense_Mutation_p.R526C|NFASC_uc010prb.2_Missense_Mutation_p.R526C|NFASC_uc001hbk.1_Missense_Mutation_p.R336C			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	515	Ig-like C2-type 1.				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)			AAACCAAGTCCGCCTGGAGGT	0.512000														97			10		0	0	0.000978	0	0
PCSK7	9159	broad.mit.edu	37	11	117089803	117089803	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:117089803G>A	uc001pqr.3	-	10	1602	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	467	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCAGGCGTTGAGGAGGCCGA	0.602000			T	IGH@	MLCLS									11			14		0	0	0.003163	0	0
EDEM3	80267	broad.mit.edu	37	1	184663459	184663459	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:184663459G>A	uc010pom.2	-	20	2846	c.2585C>T	c.(2584-2586)tCa>tTa	p.S862L	EDEM3_uc010pok.2_Missense_Mutation_p.S846L|EDEM3_uc010pol.2_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	846					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGAGATAATGATTCTGGGTG	0.393000														12			51		0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152280873	152280873	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:152280873G>A	uc001ezu.1	-	2	6525	c.6489C>T	c.(6487-6489)caC>caT	p.H2163H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2163	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)			GAGACCCTGAGTGTCCAGACC	0.567000									Ichthyosis					670			98		0	0	0.003610	0	0
NSD1	64324	broad.mit.edu	37	5	176637511	176637511	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:176637511T>A	uc003mfr.4	+	4	2249	c.2111T>A	c.(2110-2112)aTt>aAt	p.I704N	NSD1_uc003mft.4_Missense_Mutation_p.I435N|NSD1_uc003mfs.1_Missense_Mutation_p.I601N|NSD1_uc011dfx.2_Missense_Mutation_p.I352N	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	704					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGCCTCTCATTAGTAACTCA	0.403000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				37			16		0	0	0.004990	0	0
PREPL	9581	broad.mit.edu	37	2	44553880	44553880	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:44553880G>A	uc002ruf.3	-	9	2676	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	PREPL_uc002rug.3_Missense_Mutation_p.P507S|PREPL_uc002ruh.3_Missense_Mutation_p.P511S|PREPL_uc010fax.3_Missense_Mutation_p.P573S|PREPL_uc002rui.4_Missense_Mutation_p.P484S|PREPL_uc002ruj.2_Missense_Mutation_p.P484S|PREPL_uc002ruk.2_Missense_Mutation_p.P573S	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	573					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCAGCTCTGGATTAGAATTA	0.483000														36			49		0	0	0.003610	0	0
HSPA4L	22824	broad.mit.edu	37	4	128717042	128717042	+	Silent	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:128717042T>G	uc003ifm.3	+	2	538	c.285T>G	c.(283-285)ccT>ccG	p.P95P	HSPA4L_uc010iny.1_Silent_p.P95P|HSPA4L_uc011cgr.2_Silent_p.P62P	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	95					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGAAAATGCCTAATGGAAGTG	0.368000														24			36		0	0	0.001287	0	0
FBXO40	51725	broad.mit.edu	37	3	121340598	121340598	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:121340598G>A	uc003eeg.2	+	2	532	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	108					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TGTGGACTCTGAAACCACCCT	0.572000														41			16		0	0	0.004990	0	0
ADH1C	126	broad.mit.edu	37	4	100273819	100273819	+	RNA	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:100273819C>T	uc021xqi.1	-	0		c.99G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCTTACTTTTCCTGCTGTGCT	0.313000														27			38		0	0	0.002222	0	0
PLCL2	23228	broad.mit.edu	37	3	17051295	17051295	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:17051295C>T	uc011awc.2	+	2	529	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PLCL2_uc010het.1_Missense_Mutation_p.R27C|PLCL2_uc011awd.2_Missense_Mutation_p.R27C	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	153	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAAAAAGGTTCGCTCCAACTC	0.418000														11			17		0	0	0.004990	0	0
DSC1	1823	broad.mit.edu	37	18	28736122	28736122	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:28736122G>A	uc002kwn.3	-	3	617	c.355C>T	c.(355-357)Cct>Tct	p.P119S	DSC1_uc002kwm.3_Missense_Mutation_p.P119S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	119					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCTTCTTAGGAGACTACATT	0.408000														77			21		0	0	0.002299	0	0
ZNF516	9658	broad.mit.edu	37	18	74154915	74154915	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:74154915G>A	uc021ulp.1	-	2	414	c.96C>T	c.(94-96)acC>acT	p.T32T		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGTGTGGCAGGTAGCCTTGT	0.652000														39			7		0	0	0.004482	0	0
CDCP1	64866	broad.mit.edu	37	3	45136972	45136972	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:45136972G>A	uc003com.3	-	4	1248	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	371						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AACAGCCAGGGACAAACTTGC	0.493000														47			21		0	0	0.001523	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808954	48808954	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:48808954G>A	uc002rwp.2	+	1	1296	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	STON1-GTF2A1L_uc021vhf.1_Silent_p.E394E|STON1-GTF2A1L_uc002rwo.4_Silent_p.E394E|STON1-GTF2A1L_uc010fbm.3_Silent_p.E394E|STON1-GTF2A1L_uc010yol.2_Silent_p.E394E	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	394					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)			CTACTGTGGAGGAGGAGCTGA	0.428000														23			28		0	0	0.001061	0	0
MYO5C	55930	broad.mit.edu	37	15	52543596	52543596	+	Silent	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:52543596A>G	uc010bff.3	-	12	1815	c.1653T>C	c.(1651-1653)ttT>ttC	p.F551F	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	551	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCTTATCAGCAAAGTGCTGGA	0.438000														65			22		0	0	0.002780	0	0
HFM1	164045	broad.mit.edu	37	1	91788545	91788545	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:91788545C>T	uc001doa.4	-	22	2643	c.2544G>A	c.(2542-2544)atG>atA	p.M848I	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.M527I|HFM1_uc001dob.4_Missense_Mutation_p.M80I|HFM1_uc010osv.1_Missense_Mutation_p.M532I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	848	SEC63.						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)		TTCTTCCTTCCATTGGAAATC	0.199000														4			3		0	0	0.004672	0	0
VEGFA	7422	broad.mit.edu	37	6	43745229	43745229	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:43745229C>T	uc003owh.3	+	2	1180	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	VEGFA_uc003owb.3_Nonsense_Mutation_p.Q48*|VEGFA_uc003owd.3_Nonsense_Mutation_p.Q228*|VEGFA_uc010jyx.3_Nonsense_Mutation_p.Q228*|VEGFA_uc003owf.3_Nonsense_Mutation_p.Q228*|VEGFA_uc003owg.3_Nonsense_Mutation_p.Q228*|VEGFA_uc003owe.3_Nonsense_Mutation_p.Q228*|VEGFA_uc021yzu.1_Nonsense_Mutation_p.Q227*|VEGFA_uc003owj.3_Nonsense_Mutation_p.Q228*|VEGFA_uc003owi.3_Nonsense_Mutation_p.Q228*|VEGFA_uc003owk.3_5'Flank|VEGFA_uc021yzv.1_5'Flank	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	48					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GGATGTCTATCAGCGCAGCTA	0.547000														26			22		0	0	0.002780	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643006	1643006	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:1643006G>A	uc009ycy.1	-	1	300	c.213C>T	c.(211-213)ggC>ggT	p.G71G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	166	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G106G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAGCCCCCACAGG	0.682000														66			28		0	0	0.001485	0	0
ITPKC	80271	broad.mit.edu	37	19	41245275	41245275	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:41245275C>T	uc002oot.3	+	6	1895	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	621						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTAGGCAGCTCCCTCCTCTTC	0.632000														28			24		0	0	0.003954	0	0
ROCK2	9475	broad.mit.edu	37	2	11367399	11367399	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:11367399G>A	uc002rbd.1	-	5	1298	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	283	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTCATAAAGGAAAACACCTA	0.353000														125			31		0	0	0.001786	0	0
abParts	0	broad.mit.edu	37	22	23248698	23248698	+	RNA	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:23248698A>G	uc021wml.1	+	439		c.17831A>G			abParts_uc021wmm.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAACAAAGCAACAACAAGTAC	0.597000														5			26		0	0	0.002096	0	0
MED25	81857	broad.mit.edu	37	19	50333403	50333403	+	Silent	SNP	C	A	A	rs111621037		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:50333403C>A	uc002ppw.2	+	6	810	c.747C>A	c.(745-747)ccC>ccA	p.P249P	MED25_uc010ybe.2_Intron|MED25_uc002ppx.1_Silent_p.P30P	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	249	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCCTGCCTCCCGCCGCACCCT	0.667000														78			8		0.00307968	0.00598551	0.003080	1	0
ATP13A5	344905	broad.mit.edu	37	3	193007785	193007785	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:193007785G>A	uc011bsq.2	-	25	2912	c.2912C>T	c.(2911-2913)cCc>cTc	p.P971L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	971					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)		CAGTAAAGGGGGAGAAAGGAG	0.418000														18			20		0	0	0.002780	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342311	60342311	+	RNA	SNP	G	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:60342311G>T	uc010woz.2	-	13		c.1818C>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						AAAACGAGGAGGCGAAGCTTG	0.458000														91			7		3.09899e-07	6.05968e-07	0.004482	1	0
FLNB	2317	broad.mit.edu	37	3	58107028	58107028	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:58107028G>A	uc003djj.2	+	19	3089	c.2924G>A	c.(2923-2925)gGg>gAg	p.G975E	FLNB_uc010hne.2_Missense_Mutation_p.G975E|FLNB_uc003djk.2_Missense_Mutation_p.G975E|FLNB_uc010hnf.2_Missense_Mutation_p.G975E|FLNB_uc003djl.2_Missense_Mutation_p.G806E|FLNB_uc003djm.2_Missense_Mutation_p.G806E	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	975					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.Q974H(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAGGCCAGGGGAAGCTGGAC	0.582000														46			52		0	0	0.003610	0	0
LDLR	3949	broad.mit.edu	37	19	11215952	11215952	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:11215952C>T	uc002mqk.4	+	3	557	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	LDLR_uc010xlk.2_Missense_Mutation_p.R124W|LDLR_uc010xll.2_Missense_Mutation_p.R83W|LDLR_uc021upc.1_Intron|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Intron|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	124	LDL-receptor class A 3.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GTGCATCTCTCGGCAGTTCGT	0.632000														320			78		0	0	0.003610	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200607	47200607	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:47200607G>A	uc003oyv.3	-	5	2295	c.1862C>T	c.(1861-1863)gCt>gTt	p.A621V		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	621					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TTTGTCCTCAGCCTGGGGAAT	0.517000														130			80		0	0	0.003610	0	0
RIC3	79608	broad.mit.edu	37	11	8161624	8161624	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:8161624C>T	uc010rbm.1	-	1	295	c.241G>A	c.(241-243)Gga>Aga	p.G81R	RIC3_uc001mgb.2_5'Flank|RIC3_uc010rbl.1_Missense_Mutation_p.G31R|RIC3_uc001mgd.2_Missense_Mutation_p.G81R|RIC3_uc001mgc.2_Missense_Mutation_p.G81R|RIC3_uc009yfm.2_Missense_Mutation_p.G81R|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.4_Missense_Mutation_p.G81R	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	81	Poly-Gly.					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CCACCTGATCCTTTGGCCTTT	0.502000														30			56		0	0	0.003610	0	0
ZNF208	7757	broad.mit.edu	37	19	22155094	22155094	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:22155094C>T	uc021urr.1	-	3	2891	c.2742G>A	c.(2740-2742)gaG>gaA	p.E914E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGTTTCTCTCCAGTAT	0.373000														34			14		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9088939	9088939	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9088939G>A	uc002mkp.3	-	0	3080	c.2876C>T	c.(2875-2877)tCt>tTt	p.S959F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	959	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						GGGTGCAGCAGAGTCATTAAA	0.473000														130			102		0	0	0.003610	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730513	15730513	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:15730513C>T	uc002nbi.3	+	5	527	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	156					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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCTGCCTTCCATTTCAACAT	0.527000														19			6		0	0	0.001984	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891506	2891506	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:2891506G>A	uc002kln.3	+	3	1540	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	461					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAATGTGACGGAGAAGAACGC	0.448000														138			45		0	0	0.003610	0	0
WNT9B	7484	broad.mit.edu	37	17	44950057	44950057	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:44950057C>T	uc002ikw.1	+	1	289	c.252C>T	c.(250-252)ctC>ctT	p.L84L	WNT9B_uc002ikx.1_Silent_p.L84L	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	84					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent	p.L84L(2)|p.L90L(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTGCGCACCTCGGCCTGCTTG	0.652000														34			19		0	0	0.000958	0	0
SETD1A	9739	broad.mit.edu	37	16	30972749	30972749	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:30972749C>T	uc002ead.1	+	3	1094	c.408C>T	c.(406-408)ggC>ggT	p.G136G	SETD1A_uc002eae.1_Silent_p.G136G	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	136	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGCACCTGGGCCTGGCCCGTG	0.587000														23			26		0	0	0.004656	0	0
UNC5C	8633	broad.mit.edu	37	4	96166223	96166223	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:96166223C>T	uc003hto.3	-	5	1201	c.848G>A	c.(847-849)cGt>cAt	p.R283H	UNC5C_uc010ilc.2_Missense_Mutation_p.R283H|UNC5C_uc003htq.3_Missense_Mutation_p.R283H	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	283	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTCCTTGTACGTTTCTGATA	0.527000														27			43		0	0	0.002222	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110445392	110445392	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:110445392C>T	uc003yne.3	+	27	3391	c.3287C>T	c.(3286-3288)tCa>tTa	p.S1096L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1096	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCCTAGTTCAGCTGTAACA	0.338000										HNSCC(38;0.096)				261			69		0	0	0.003610	0	0
EPHA6	285220	broad.mit.edu	37	3	97202883	97202883	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:97202883T>G	uc010how.1	+	9	2223	c.2180T>G	c.(2179-2181)aTt>aGt	p.I727S	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.I93S|EPHA6_uc003drs.4_Missense_Mutation_p.I119S|EPHA6_uc003drr.4_Missense_Mutation_p.I119S|EPHA6_uc003drt.3_Missense_Mutation_p.I119S|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	632	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGAATTCGTATTGAGAGAGTC	0.358000														22			6		0	0	0.003080	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					51			37		0	0	0.004672	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269996	150269996	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:150269996G>A	uc003whl.3	+	2	920	c.838G>A	c.(838-840)Gag>Aag	p.E280K	GIMAP4_uc011kuu.2_Missense_Mutation_p.E141K|GIMAP4_uc011kuv.2_Missense_Mutation_p.E294K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	280							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGCAAATGGAGAAGAAACT	0.448000														16			13		0	0	0.001368	0	0
FCRL5	83416	broad.mit.edu	37	1	157514161	157514161	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:157514161G>A	uc009wsm.3	-	4	893	c.735C>T	c.(733-735)ttC>ttT	p.F245F	FCRL5_uc001fqu.3_Silent_p.F245F|FCRL5_uc010phv.1_Silent_p.F245F|FCRL5_uc010phw.1_Silent_p.F160F|FCRL5_uc001fqv.1_Silent_p.F245F|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	245	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGTAATCTGGAAATTCGGGG	0.522000														245			56		0	0	0.003610	0	0
CACNA1S	779	broad.mit.edu	37	1	201030461	201030461	+	Silent	SNP	G	A	A	rs150020550		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:201030461G>A	uc001gvv.3	-	24	3416	c.3189C>T	c.(3187-3189)ttC>ttT	p.F1063F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1063	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.F1063F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGACAATGACGAAGCCCACAA	0.522000														32			52		0	0	0.003610	0	0
HERC1	8925	broad.mit.edu	37	15	64005676	64005677	+	Missense_Mutation	DNP	GG	AA	AA	rs7162519		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:64005676_64005677GG>AA	uc002amp.3	-	22	4486_4487	c.4338_4339CC>TT	c.(4336-4341)atccat>atTTat	p.H1447Y	HERC1_uc010uil.1_Missense_Mutation_p.H431Y	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1447			H -> N (in dbSNP:rs7162519).		protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACACCGATGGATCACGGAGT	0.510000														47			37		0	0	0.004672	0	0
MRO	83876	broad.mit.edu	37	18	48331632	48331632	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:48331632G>A	uc010dpa.3	-	3	512	c.363C>T	c.(361-363)atC>atT	p.I121I	MRO_uc010xdn.2_Silent_p.I107I|MRO_uc002lew.4_Silent_p.I107I|MRO_uc010dpb.3_Silent_p.I121I|MRO_uc010dpc.3_Silent_p.I107I|MRO_uc002lex.4_Silent_p.I107I	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	107						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TACTCTCATGGATGACTTCCA	0.448000														38			36		0	0	0.003755	0	0
SPOCK3	50859	broad.mit.edu	37	4	167658662	167658662	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:167658662C>T	uc011cjq.1	-	8	1181	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	SPOCK3_uc021xuf.1_Missense_Mutation_p.G366E|SPOCK3_uc011cjr.1_Missense_Mutation_p.G246E|SPOCK3_uc003iri.1_Missense_Mutation_p.G366E|SPOCK3_uc011cjs.1_Missense_Mutation_p.G315E|SPOCK3_uc003irj.1_Missense_Mutation_p.G363E|SPOCK3_uc011cjt.1_Missense_Mutation_p.G274E|SPOCK3_uc011cjp.2_Missense_Mutation_p.G323E|SPOCK3_uc011cju.1_Missense_Mutation_p.G270E|SPOCK3_uc011cjv.1_Missense_Mutation_p.G268E	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	366	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.G363E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GACTTCATTTCCATATCTGTC	0.403000														95			33		0	0	0.004878	0	0
TPRN	286262	broad.mit.edu	37	9	140094258	140094258	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:140094258G>A	uc004clt.3	-	0	906	c.906C>T	c.(904-906)gcC>gcT	p.A302A	TPRN_uc004clu.3_Silent_p.A302A	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	302					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CTGGCTTGGGGGCCGGCCGTA	0.652000														4			3		0	0	0.000602	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776575	159776575	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:159776575G>A	uc003lyd.3	-	2	597	c.593C>T	c.(592-594)tCg>tTg	p.S198L		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	153	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTGCCACCGAGAAAGCTGA	0.607000														148			38		0	0	0.003214	0	0
MYO5B	4645	broad.mit.edu	37	18	47369720	47369720	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:47369720G>A	uc002leb.2	-	33	4790	c.4502C>T	c.(4501-4503)cCc>cTc	p.P1501L	MYO5B_uc002ldz.3_Missense_Mutation_p.P71L|MYO5B_uc002lea.2_Missense_Mutation_p.P616L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1501					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GATGTAGGCGGGGAGACAGGG	0.557000														55			13		0	0	0.002450	0	0
MICAL2	9645	broad.mit.edu	37	11	12277215	12277215	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:12277215G>A	uc001mjz.3	+	22	3161	c.2873G>A	c.(2872-2874)gGa>gAa	p.G958E	MICAL2_uc010rch.1_Missense_Mutation_p.G768E|MICAL2_uc001mka.3_Missense_Mutation_p.G958E|MICAL2_uc010rci.2_Missense_Mutation_p.G937E|MICAL2_uc001mkb.3_Intron|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Missense_Mutation_p.G170E|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	958						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTGTCCAGCGGAATAGGGGCT	0.547000														3			11		0	0	0.000978	0	0
SCEL	8796	broad.mit.edu	37	13	78130041	78130041	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:78130041C>T	uc001vki.3	+	1	201	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SCEL_uc010thx.2_Missense_Mutation_p.P11S|SCEL_uc001vkj.3_Missense_Mutation_p.P11S	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	11					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAAATGTCTCCCACAGGAAA	0.353000														34			33		0	0	0.001287	0	0
MYH1	4619	broad.mit.edu	37	17	10408762	10408762	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:10408762C>T	uc002gmo.3	-	19	2335	c.2241G>A	c.(2239-2241)gaG>gaA	p.E747E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	747	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAGGAGCTTCTCTGAAGCCT	0.413000														42			23		0	0	0.002780	0	0
BCMO1	53630	broad.mit.edu	37	16	81303860	81303860	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:81303860G>A	uc002fgn.1	+	6	1158	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	BCMO1_uc010vnp.1_Missense_Mutation_p.E245K	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	314					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CAACGCCTACGAAGAGGACGG	0.522000														69			29		0	0	0.001512	0	0
CDON	50937	broad.mit.edu	37	11	125864879	125864879	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:125864879G>A	uc009zbw.3	-	12	2559	c.2431C>T	c.(2431-2433)Cgt>Tgt	p.R811C	CDON_uc001qdb.4_Missense_Mutation_p.R188C|CDON_uc001qdc.4_Missense_Mutation_p.R811C	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	811	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGATAAGGACGAGATGCTGAA	0.433000														51			22		0	0	0.003330	0	0
ARL14	80117	broad.mit.edu	37	3	160395290	160395290	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:160395290C>T	uc003fdq.3	+	0	343	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	52					small GTPase mediated signal transduction	intracellular	GTP binding	p.I52I(2)		lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TGGAAATGATCGAGTTGGAAA	0.438000														58			26		0	0	0.001786	0	0
SATB2	23314	broad.mit.edu	37	2	200188594	200188594	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:200188594G>C	uc002uuy.2	-	8	2291	c.1474C>G	c.(1474-1476)Caa>Gaa	p.Q492E	SATB2_uc010fsq.2_Missense_Mutation_p.Q374E|SATB2_uc002uva.2_Missense_Mutation_p.Q492E|SATB2_uc002uuz.2_Missense_Mutation_p.Q492E	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	492						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATCTCCTGTTGGATCTCGTCA	0.483000														58			29		0	0	0.001271	0	0
TACC2	10579	broad.mit.edu	37	10	123843338	123843338	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:123843338C>T	uc001lfv.3	+	3	1683	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.S441S|TACC2_uc010qtv.2_Silent_p.S441S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	441						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)				GATCATCATCCAGGGAATCAG	0.542000														15			56		0	0	0.003610	0	0
EDNRA	1909	broad.mit.edu	37	4	148406970	148406970	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:148406970G>A	uc003iky.3	+	1	667	c.137G>A	c.(136-138)aGc>aAc	p.S46N	EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Missense_Mutation_p.S46N|EDNRA_uc010ipe.1_Missense_Mutation_p.S46N|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	46					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	ACAGAGCTCAGCTTCCTGGTT	0.443000														35			19		0	0	0.000958	0	0
GABRB2	2561	broad.mit.edu	37	5	160757971	160757971	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:160757971C>T	uc003lys.1	-	8	1214	c.996G>A	c.(994-996)ggG>ggA	p.G332G	GABRB2_uc011deh.1_Silent_p.G171G|GABRB2_uc003lyr.1_Silent_p.G332G|GABRB2_uc003lyt.1_Silent_p.G332G|GABRB2_uc021yhg.1_Silent_p.G269G	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	332					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)	GGGGCCCCCTCCCAAAGAAGA	0.507000														86			33		0	0	0.002096	0	0
MYOC	4653	broad.mit.edu	37	1	171621471	171621471	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:171621471G>A	uc001ghu.3	-	0	303	c.281C>T	c.(280-282)tCc>tTc	p.S94F	MYOC_uc010pmk.2_Intron	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	94					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GCTCTCCAGGGAGCTGAGTCG	0.627000														30			76		0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181705457	181705457	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:181705457G>A	uc009wxt.3	+	21	3504	c.3309G>A	c.(3307-3309)gaG>gaA	p.E1103E	CACNA1E_uc001gow.3_Silent_p.E1103E|CACNA1E_uc009wxs.3_Silent_p.E1084E|CACNA1E_uc001gox.1_Silent_p.E329E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1103					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGAGGCAGAGATCAGAgagg	0.498000														10			14		0	0	0.004007	0	0
CNTN4	152330	broad.mit.edu	37	3	2967459	2967459	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:2967459G>A	uc003bpc.3	+	12	1693	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	CNTN4_uc003bpb.1_Missense_Mutation_p.E124K|CNTN4_uc021wsg.1_Missense_Mutation_p.E452K|CNTN4_uc003bpd.1_Missense_Mutation_p.E452K|CNTN4_uc003bpe.3_Missense_Mutation_p.E124K|CNTN4_uc003bpf.3_Missense_Mutation_p.E124K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	452	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAAGAAAATGAAAGGTACTG	0.368000														29			44		0	0	0.002852	0	0
STON2	85439	broad.mit.edu	37	14	81862461	81862461	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:81862461G>A	uc010tvu.2	-	1	348	c.150C>T	c.(148-150)tcC>tcT	p.S50S	STON2_uc001xvk.1_Silent_p.S50S|STON2_uc010atc.1_Silent_p.S50S	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	50					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGTTCTCCCCGGAGGAGCTCT	0.577000														2			24		0	0	0.002299	0	0
CHD3	1107	broad.mit.edu	37	17	7808417	7808417	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:7808417G>A	uc002gjd.2	+	26	4252	c.4250_splice	c.e26-1	p.D1417_splice	CHD3_uc002gje.2_Splice_Site_p.D1358_splice|CHD3_uc002gjf.2_Splice_Site_p.D1358_splice|CHD3_uc002gjh.2_Splice_Site|SCARNA21_uc002gji.1_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1358					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCCCCACAGACAACCAGTC	0.572000														28			35		0	0	0.001287	0	0
MKI67	4288	broad.mit.edu	37	10	129904640	129904640	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:129904640G>A	uc001lke.3	-	12	5659	c.5464C>T	c.(5464-5466)Cgt>Tgt	p.R1822C	MKI67_uc001lkf.3_Missense_Mutation_p.R1462C|MKI67_uc009yav.1_Missense_Mutation_p.R1397C|MKI67_uc009yaw.1_Missense_Mutation_p.R972C	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1822	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTTCCTTACGAGTTTGTAGC	0.473000														13			97		0	0	0.003610	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540896	133540896	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:133540896C>T	uc002ttp.3	-	13	3862	c.3488G>A	c.(3487-3489)aGt>aAt	p.S1163N	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1163							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACGGTGGAACTTTTCCTGAG	0.483000														62			23		0	0	0.002299	0	0
MAP4K3	8491	broad.mit.edu	37	2	39479010	39479010	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:39479010G>A	uc002rro.3	-	32	2649	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	MAP4K3_uc002rrp.3_Missense_Mutation_p.S832L|MAP4K3_uc010yns.2_Missense_Mutation_p.S406L	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	853	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGTGCTATCTGAAATTTCTTG	0.303000														17			25		0	0	0.002445	0	0
CABP5	56344	broad.mit.edu	37	19	48543970	48543970	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:48543970G>C	uc002phu.2	-	2	262	c.130C>G	c.(130-132)Cga>Gga	p.R44G		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	44	EF-hand 1.				signal transduction	cytoplasm	calcium ion binding	p.R44*(2)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AACCCATCTCGGTCCTTATCG	0.502000														89			30		0	0	0.004289	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718366	103718366	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:103718366G>A	uc001vpy.4	-	0	831	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	78					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGAGGGGCATGATTCCAAACT	0.527000														48			29		0	0	0.001271	0	0
IL12B	3593	broad.mit.edu	37	5	158750203	158750203	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:158750203G>A	uc003lxr.1	-	2	265	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	75	Ig-like C2-type.				T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGATGGTCAGGGTTTTGCCA	0.527000														37			14		0	0	0.002450	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421051	55421051	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:55421051C>T	uc001sgp.4	+	1	1206	c.828C>T	c.(826-828)tcC>tcT	p.S276S	NEUROD4_uc021qyr.1_Silent_p.S276S	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	276					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S276S(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TAGAAAAATCCTACAGCTTCA	0.502000														157			46		0	0	0.002522	0	0
KCNH6	81033	broad.mit.edu	37	17	61615918	61615918	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:61615918C>T	uc002jay.3	+	7	1929	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	KCNH6_uc010wpl.2_Missense_Mutation_p.P494S|KCNH6_uc010wpm.2_Missense_Mutation_p.P617S|KCNH6_uc002jaz.1_Missense_Mutation_p.P564S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	617					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCACGCGCCGCCTGGGGACAC	0.682000														17			5		0	0	0.000602	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816294	1816294	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:1816294G>A	uc010uvl.2	+	21	2823	c.2703G>A	c.(2701-2703)gaG>gaA	p.E901E	MAPK8IP3_uc002cmk.3_Silent_p.E900E|MAPK8IP3_uc002cml.3_Silent_p.E890E|MAPK8IP3_uc021tah.1_Silent_p.E894E	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	900					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGGCCACGGAGGTGCCAGACC	0.667000														24			15		0	0	0.003163	0	0
EHD2	30846	broad.mit.edu	37	19	48229100	48229100	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:48229100C>T	uc002phj.4	+	3	784	c.534C>T	c.(532-534)ttC>ttT	p.F178F	EHD2_uc010xyu.2_Silent_p.F42F	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	178					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGCGCTGGTTCGCGGAGCGCG	0.637000														38			13		0	0	0.004007	0	0
WHSC1	7468	broad.mit.edu	37	4	1902443	1902443	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:1902443T>G	uc003gdz.4	+	1	238	c.62T>G	c.(61-63)aTg>aGg	p.M21R	WHSC1_uc003geb.4_Missense_Mutation_p.M21R|WHSC1_uc003gec.4_Missense_Mutation_p.M21R|WHSC1_uc003ged.4_Missense_Mutation_p.M21R|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Missense_Mutation_p.M21R|WHSC1_uc003gdy.1_Missense_Mutation_p.M21R|WHSC1_uc010icd.1_Missense_Mutation_p.M21R|WHSC1_uc003gea.1_Missense_Mutation_p.M21R|WHSC1_uc010ice.1_Missense_Mutation_p.M21R|WHSC1_uc003geg.1_Missense_Mutation_p.M21R|WHSC1_uc003geh.1_Missense_Mutation_p.M21R	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	21					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGCATAAAGATGAAGCAGGCA	0.507000			T	IGH@	MM									118			50		0	0	0.003610	0	0
ZBTB48	3104	broad.mit.edu	37	1	6640876	6640876	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:6640876C>T	uc009vmc.2	+	1	330	c.207C>T	c.(205-207)ttC>ttT	p.F69F	ZBTB48_uc001anx.3_Silent_p.F69F|ZBTB48_uc009vmd.2_Silent_p.F69F	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	69	BTB.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CTGCTGGCTTCGCTGAGATCT	0.577000														39			25		0	0	0.003330	0	0
APPL1	26060	broad.mit.edu	37	3	57282295	57282295	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:57282295C>T	uc003dio.3	+	9	926	c.779C>T	c.(778-780)cCc>cTc	p.P260L	APPL1_uc010hnb.3_Missense_Mutation_p.P260L|APPL1_uc011bey.1_Missense_Mutation_p.P243L	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	260	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCAGTGATCCCTTATATGTG	0.418000														44			21		0	0	0.004656	0	0
TESPA1	9840	broad.mit.edu	37	12	55368220	55368220	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:55368220G>A	uc010spd.1	-	1	260	c.127C>T	c.(127-129)Cct>Tct	p.P43S	TESPA1_uc001sgl.3_5'Flank|TESPA1_uc001sgm.3_5'Flank|TESPA1_uc010spb.1_5'Flank|TESPA1_uc010spc.1_5'Flank|TESPA1_uc001sgn.3_Missense_Mutation_p.P43S	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	43																	GAAGGCTCAGGATCTGGGACA	0.597000														12			3		0	0	0.000602	0	0
NPAS4	266743	broad.mit.edu	37	11	66191958	66191958	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:66191958C>T	uc001ohx.1	+	6	1773	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	NPAS4_uc010rpc.1_Missense_Mutation_p.P323S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	533					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACAGCTGACTCCTCCCAGCAC	0.612000														79			93		0	0	0.003610	0	0
CHST6	4166	broad.mit.edu	37	16	75512971	75512971	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:75512971G>A	uc021tlj.1	-	0	756	c.756C>T	c.(754-756)atC>atT	p.I252I	CHST6_uc002fef.3_Silent_p.I252I|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Silent_p.I252I	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	252					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGCCTCGGCGATGCGTACGT	0.716000														31			25		0	0	0.004656	0	0
OR2T33	391195	broad.mit.edu	37	1	248436624	248436624	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248436624G>A	uc010pzi.2	-	0	493	c.493C>T	c.(493-495)Cca>Tca	p.P165S		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P165Q(2)		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)			CCACAATATGGGAAGCTCAGG	0.562000														14			97		0	0	0.003610	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132057	59132057	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:59132057G>A	uc010rks.2	+	0	126	c.126G>A	c.(124-126)tgG>tgA	p.W42*		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCTGGCCTGGAACCTCTCCC	0.413000														44			58		0	0	0.003610	0	0
AGGF1	55109	broad.mit.edu	37	5	76349860	76349860	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:76349860C>T	uc003ket.3	+	9	1920	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	513					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACTGTCTTATCCTTTCACATT	0.423000														461			178		0	0	0.003610	0	0
ATG13	9776	broad.mit.edu	37	11	46690351	46690351	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:46690351C>T	uc001nda.3	+	15	1965	c.1337C>T	c.(1336-1338)cCt>cTt	p.P446L	ATG13_uc009yld.3_Missense_Mutation_p.P413L|ATG13_uc001ndb.3_Missense_Mutation_p.P413L|ATG13_uc001ncz.3_Missense_Mutation_p.P376L|ATG13_uc001ndc.3_Missense_Mutation_p.P376L|ATG13_uc010rgv.2_Missense_Mutation_p.P297L	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	413					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CAGGTGAATCCTCCAGATTCC	0.488000														38			16		0	0	0.001216	0	0
KLK7	5650	broad.mit.edu	37	19	51480889	51480889	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:51480889C>T	uc002puo.3	-	5	767	c.665G>A	c.(664-666)gGa>gAa	p.G222E	KLK7_uc002pup.3_Missense_Mutation_p.G222E|KLK7_uc021uyj.1_Missense_Mutation_p.G215E|KLK7_uc010eok.3_Missense_Mutation_p.G150E	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	222	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGGGAAAGTTCCCCAGGACAC	0.522000														50			44		0	0	0.001951	0	0
GRM3	2913	broad.mit.edu	37	7	86394322	86394322	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:86394322G>A	uc003uid.3	+	2	960	c.-139_splice	c.e2-1		GRM3_uc010lef.3_Splice_Site|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.						synaptic transmission	integral to plasma membrane				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)	ATCTCTTTAGGAATTTTGTGA	0.388000														20			4		0	0	0.000602	0	0
NOTUM	147111	broad.mit.edu	37	17	79910903	79910903	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:79910903C>T	uc010wvg.2	-	10	1697	c.1425G>A	c.(1423-1425)caG>caA	p.Q475Q		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	475						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGGCCACCGTCTGCATGTCGA	0.647000														103			41		0	0	0.003610	0	0
PCDP1	200373	broad.mit.edu	37	2	120383232	120383233	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:120383232_120383233AG>TA	uc002tmb.3	+	15	1738_1739	c.626_627AG>TA	c.(625-627)aag>aTA	p.K209I	PCDP1_uc010yyq.2_Missense_Mutation_p.K339I	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	495						cilium	calmodulin binding					Colorectal(110;0.196)					ATACTGAGAAAGATTGGCCAAG	0.426000														22			5		0	0	0.004672	0	0
TDRD5	163589	broad.mit.edu	37	1	179587780	179587780	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:179587780G>A	uc010pnp.2	+	4	1396	c.878G>A	c.(877-879)gGa>gAa	p.G293E	TDRD5_uc021pfm.1_Missense_Mutation_p.G293E|TDRD5_uc001gnf.2_Missense_Mutation_p.G293E|TDRD5_uc021pfn.1_Missense_Mutation_p.G293E|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	293					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGACCTGGAGGAACTATCAGT	0.313000														114			27		0	0	0.002445	0	0
KDR	3791	broad.mit.edu	37	4	55972864	55972864	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:55972864C>T	uc003has.3	-	10	1828	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	KDR_uc003hat.1_Missense_Mutation_p.G509E|KDR_uc011bzx.2_Missense_Mutation_p.G509E	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	509	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGTTTTTTCCTTCAATTAG	0.323000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				20			5		0	0	0.000602	0	0
MAPT	4137	broad.mit.edu	37	17	44064408	44064408	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:44064408C>T	uc002ijr.4	+	6	1451	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	MAPT_uc010dau.3_Missense_Mutation_p.R377C|MAPT_uc002ijs.4_Missense_Mutation_p.R126C|MAPT_uc002ijx.4_Missense_Mutation_p.R97C|MAPT_uc021tyv.1_Missense_Mutation_p.R126C|MAPT_uc002ijt.4_Missense_Mutation_p.R68C|MAPT_uc021tyw.1_Missense_Mutation_p.R97C|MAPT_uc002iju.4_Missense_Mutation_p.R68C	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	377					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton	p.R377C(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TTTATCAGCTCGCATGGTCAG	0.453000														27			15		0	0	0.002450	0	0
OR4C3	256144	broad.mit.edu	37	11	48346522	48346522	+	Silent	SNP	C	T	T	rs140779640	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:48346522C>T	uc010rhv.2	+	0	30	c.30C>T	c.(28-30)ctC>ctT	p.L10L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTATGTTTCTCCTTGTCTTTA	0.373000														89			32		0	0	0.002836	0	0
NR5A2	2494	broad.mit.edu	37	1	200017898	200017899	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:200017898_200017899CT>TC	uc001gvb.3	+	4	1268_1269	c.1062_1063CT>TC	c.(1060-1065)ttctcc>ttTCcc	p.S355P	NR5A2_uc001gvc.3_Missense_Mutation_p.S309P|NR5A2_uc009wzh.3_Missense_Mutation_p.S315P|NR5A2_uc010pph.2_Missense_Mutation_p.S283P	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	355	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.S355S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAACTCTCTTCTCCATTGTCGA	0.455000														163			31		0	0	0.004672	0	0
SPZ1	84654	broad.mit.edu	37	5	79617198	79617198	+	RNA	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:79617198G>A	uc011ctk.1	-	0		c.461C>T			SPZ1_uc003kgn.3_Nonsense_Mutation_p.W388*			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GTACATTTTGGAAAAAAGACA	0.358000														54			26		0	0	0.004656	0	0
TNPO1	3842	broad.mit.edu	37	5	72178914	72178914	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:72178914G>A	uc003kck.4	+	10	1152	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	TNPO1_uc011csi.1_Non-coding_Transcript|TNPO1_uc011csj.1_Silent_p.T285T|TNPO1_uc003kci.4_Silent_p.T327T|TNPO1_uc003kcg.4_Silent_p.T327T	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	335					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGACGAAACGATTCCTGATA	0.403000														81			36		0	0	0.001951	0	0
EPHB6	2051	broad.mit.edu	37	7	142561946	142561946	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:142561946C>T	uc011kst.2	+	6	1175	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	EPHB6_uc011ksu.2_Missense_Mutation_p.L130F|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	130						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GACCTTCACCCTTTACTACCG	0.647000														96			29		0	0	0.001786	0	0
C1orf127	148345	broad.mit.edu	37	1	11024187	11024187	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:11024187G>C	uc010oao.2	-	4	514	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	C1orf127_uc001ars.2_Missense_Mutation_p.Q33E|C1orf127_uc001arr.2_Missense_Mutation_p.Q33E	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	23										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCATTACCTGGATGAACATG	0.607000														36			8		0	0	0.004482	0	0
ASB15	142685	broad.mit.edu	37	7	123276868	123276868	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:123276868C>T	uc003vku.1	+	11	1892	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	ASB15_uc003vkw.1_Missense_Mutation_p.P534S	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	534	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTTAGAGAATCCTTGTTCATT	0.393000														60			39		0	0	0.001485	0	0
NOX1	27035	broad.mit.edu	37	X	100104847	100104847	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:100104847C>T	uc004egj.3	-	9	1416	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R	NOX1_uc004egl.4_Missense_Mutation_p.G404R|NOX1_uc010nne.3_Missense_Mutation_p.G367R	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	404	Interaction with NOXO1.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACCCCAATTCCTGCTCCAACC	0.468000														0			13		0	0	0.001368	0	0
VPRBP	9730	broad.mit.edu	37	3	51467536	51467536	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:51467536G>A	uc003dbe.2	-	9	1442	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	VPRBP_uc021wys.1_Silent_p.A418A	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	472					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GCTCCAAGACGGCCCGAAATG	0.473000														44			22		0	0	0.002780	0	0
EXT2	2132	broad.mit.edu	37	11	44130788	44130788	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:44130788G>A	uc001mya.3	+	2	736	c.680G>A	c.(679-681)gGa>gAa	p.G227E	EXT2_uc010rfo.2_Missense_Mutation_p.G222E|EXT2_uc009ykt.3_Missense_Mutation_p.G194E|EXT2_uc001mxz.3_Missense_Mutation_p.G194E	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	194			D -> N (in EXT2; can still form an oligomeric complex).		glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGTTGCCTGGAGGTCCCCCA	0.433000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					52			15		0	0	0.006122	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357063	37357063	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:37357063C>T	uc002xjc.3	+	1	1622	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	453					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCCGCACTTCGCGCTGCTCA	0.672000														74			33		0	0	0.001287	0	0
CILP2	148113	broad.mit.edu	37	19	19653450	19653450	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:19653450G>A	uc002nmw.4	+	4	962	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CILP2_uc002nmv.4_Missense_Mutation_p.D287N	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	287	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CATCATCCTTGATAAGTTGGG	0.562000														30			20		0	0	0.003330	0	0
C3orf58	205428	broad.mit.edu	37	3	143704392	143704392	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:143704392C>T	uc003evo.3	+	1	1200	c.665C>T	c.(664-666)cCg>cTg	p.P222L	C3orf58_uc011bnl.2_Missense_Mutation_p.P13L	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	222						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAGAGTTTTCCGTCTGATGAA	0.373000														76			28		0	0	0.005443	0	0
FCRL4	83417	broad.mit.edu	37	1	157551345	157551345	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:157551345G>A	uc001fqw.3	-	6	1361	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	409						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CGCCAGCAGTGAAACAGCAGG	0.587000														60			10		0	0	0.001368	0	0
TRPC5	7224	broad.mit.edu	37	X	111090558	111090558	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:111090558G>A	uc004epl.1	-	5	2403	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	TRPC5_uc004epm.1_Missense_Mutation_p.S495F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	495					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTGAACAGGGATATGAGACG	0.483000														1			29		0	0	0.002445	0	0
LRP1B	53353	broad.mit.edu	37	2	141092026	141092026	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:141092026G>A	uc002tvj.1	-	78	13191	c.12219C>T	c.(12217-12219)ccC>ccT	p.P4073P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4073					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATACCTGTGGGTCTCTGTA	0.363000										TSP Lung(27;0.18)				26			22		0	0	0.002780	0	0
MYH13	8735	broad.mit.edu	37	17	10267766	10267766	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:10267766G>A	uc002gmk.1	-	2	172	c.82C>T	c.(82-84)Caa>Taa	p.Q28*		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	28	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						GGACGATTTTGAGCCTCGATT	0.468000														7			8		0	0	0.004482	0	0
PRRG1	5638	broad.mit.edu	37	X	37312719	37312719	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:37312719C>T	uc004ddn.3	+	4	755	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PRRG1_uc004ddo.3_Missense_Mutation_p.P168S|PRRG1_uc022buu.1_Missense_Mutation_p.P168S|PRRG1_uc022buv.1_Missense_Mutation_p.P168S	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	168						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						CAATTGTGATCCCCCGCCAAC	0.512000														7			14		0	0	0.001855	0	0
SLC28A1	9154	broad.mit.edu	37	15	85476408	85476408	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:85476408G>A	uc002blg.3	+	12	1318	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V	SLC28A1_uc010bnb.3_Silent_p.V372V|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Silent_p.V372V|SLC28A1_uc010upg.1_Silent_p.V372V	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	372					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGCCTCTGTGATGGCTGCCC	0.567000														108			80		0	0	0.003610	0	0
HLA-DPB2	3116	broad.mit.edu	37	6	33095754	33095754	+	RNA	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:33095754C>T	uc003ocw.1	+	2		c.524C>T								Homo sapiens major histocompatibility complex, class II, DP beta 2 (pseudogene) (HLA-DPB2), non-coding RNA.																		CCAACCTGATCCGTAATGGAG	0.542000														43			27		0	0	0.001271	0	0
ZNF521	25925	broad.mit.edu	37	18	22807497	22807497	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:22807497G>A	uc002kvk.2	-	3	632	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.R129C|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	129					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TAGCTGAGGCGGCTAAACGAC	0.517000			T	PAX5	ALL									127			37		0	0	0.001706	0	0
MUC21	394263	broad.mit.edu	37	6	30954052	30954052	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:30954052G>A	uc003nsh.2	+	1	351	c.100G>A	c.(100-102)Gga>Aga	p.G34R	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.G18R	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	34	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGCCAACACTGGATCCAGTGT	0.478000														63			62		0	0	0.003610	0	0
MEGF9	1955	broad.mit.edu	37	9	123453747	123453747	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:123453747G>A	uc004bkj.2	-	1	736	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	MEGF9_uc022bms.1_Intron|MEGF9_uc004bkk.4_Intron	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	Homo sapiens multiple EGF-like-domains 9 (MEGF9), mRNA.	200	Pro-rich.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ACAGGCCACTGATGCCCTGAA	0.353000														4			5		0	0	0.001168	0	0
ANKK1	255239	broad.mit.edu	37	11	113265695	113265695	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:113265695G>A	uc001pny.3	+	2	619	c.525G>A	c.(523-525)cgG>cgA	p.R175R		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	175	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGTCCACCCGGATGCAGTACA	0.547000														13			8		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179423192	179423192	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179423192G>A	uc021vsy.1	-	275	79515	c.79290C>T	c.(79288-79290)acC>acT	p.T26430T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T20125T|TTN_uc021vta.1_Silent_p.T20058T|TTN_uc021vtb.1_Silent_p.T19933T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27357	Fibronectin type-III 92.						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)			CAACGTGATGGGTTGACTTTG	0.453000														42			18		0	0	0.006122	0	0
PIK3R5	23533	broad.mit.edu	37	17	8808179	8808179	+	Nonsense_Mutation	SNP	G	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:8808179G>C	uc002glt.3	-	4	394	c.327C>G	c.(325-327)taC>taG	p.Y109*	PIK3R5_uc010vuz.2_Nonsense_Mutation_p.Y109*|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	109					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGAACCGGTGGTAGGTGCTGG	0.552000														37			53		0	0	0.003610	0	0
LOC646214	646214	broad.mit.edu	37	15	21938041	21938041	+	RNA	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:21938041T>C	uc010tzj.1	-	0		c.2699A>G								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TGACAAAGGGTCTTTGCCCCC	0.463000														363			31		0	0	0.002445	0	0
SNTG2	54221	broad.mit.edu	37	2	1079206	1079206	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:1079206G>A	uc002qwq.3	+	1	204	c.75G>A	c.(73-75)acG>acA	p.T25T	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Silent_p.T25T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	25					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.T25T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCCTACAGACGAAAACCACTA	0.478000														68			15		0	0	0.001216	0	0
ENPEP	2028	broad.mit.edu	37	4	111469345	111469345	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:111469345G>A	uc003iab.4	+	13	2356	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	672					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCAACTTCTAGATTATAAGGT	0.308000														7			8		0	0	0.003080	0	0
RAD54B	25788	broad.mit.edu	37	8	95405993	95405993	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:95405993G>A	uc003ygk.3	-	8	1627	c.1496C>T	c.(1495-1497)tCg>tTg	p.S499L	RAD54B_uc010may.2_Missense_Mutation_p.S315L|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.S499*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGGTTCTCTCGATAAAATGAT	0.299000								Direct reversal of damage;Homologous recombination						140			102		0	0	0.003610	0	0
C8A	731	broad.mit.edu	37	1	57351831	57351831	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:57351831G>A	uc001cyo.2	+	6	1219	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	363	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCAAAAATGGAATCCCTTGG	0.418000														37			10		0	0	0.000673	0	0
PARM1	25849	broad.mit.edu	37	4	75938336	75938336	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:75938336G>A	uc003hih.2	+	1	998	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	249					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GATCATGCAGGAAGTAGAACA	0.463000														15			20		0	0	0.001882	0	0
THSD1P1	374500	broad.mit.edu	37	13	52855044	52855044	+	RNA	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:52855044G>A	uc001vgm.1	-	3		c.374C>T								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		TGAGCCAGATGAAAAACTCTT	0.328000														6			3		0	0	0.004672	0	0
OR4A5	81318	broad.mit.edu	37	11	51411655	51411655	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:51411655A>T	uc001nhi.2	-	0	794	c.741T>A	c.(739-741)ttT>ttA	p.F247L		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGGTACAAAAAAGAGGACAA	0.413000														45			17		0	0	0.004007	0	0
MFSD12	126321	broad.mit.edu	37	19	3547300	3547300	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:3547300C>T	uc002lxw.3	-	5	1163	c.993G>A	c.(991-993)atG>atA	p.M331I	MFSD12_uc002lxx.3_Missense_Mutation_p.M331I|MFSD12_uc002lxy.3_Missense_Mutation_p.M322I|MFSD12_uc002lxz.3_Missense_Mutation_p.M331I	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	331					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TGATGGGCTTCATGAGGAAGG	0.627000														61			39		0	0	0.003214	0	0
OR5T2	219464	broad.mit.edu	37	11	55999753	55999753	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:55999753G>A	uc010rjc.2	-	0	909	c.909C>T	c.(907-909)tcC>tcT	p.S303S		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S302G(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AAGCATAGCTGGAACTTGGTC	0.423000														84			32		0	0	0.002096	0	0
GPR83	10888	broad.mit.edu	37	11	94113369	94113369	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:94113369G>A	uc001pet.2	-	3	1390	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	406						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCCCAGACTGGAGTTGGGAGG	0.582000														45			16		0	0	0.003163	0	0
ESRP1	54845	broad.mit.edu	37	8	95686711	95686711	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:95686711C>T	uc003ygq.4	+	11	1811	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	ESRP1_uc003ygr.4_Missense_Mutation_p.S543F|ESRP1_uc003ygs.4_Missense_Mutation_p.S543F|ESRP1_uc003ygt.4_Missense_Mutation_p.S543F|ESRP1_uc003ygu.4_Missense_Mutation_p.S543F|ESRP1_uc003ygv.3_Missense_Mutation_p.S383F|ESRP1_uc003ygw.3_Missense_Mutation_p.S383F	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	543					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AATGGCTTATCCCCACCGCCA	0.413000														231			201		0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240371813	240371813	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:240371813C>T	uc010pye.2	+	5	3938	c.3713C>T	c.(3712-3714)cCg>cTg	p.P1238L	FMN2_uc010pyd.2_Missense_Mutation_p.P1234L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1234	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGAATCCCACCGCCCCCTCTG	0.602000														18			32		0	0	0.002445	0	0
NUP210	23225	broad.mit.edu	37	3	13378341	13378341	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:13378341G>A	uc003bxv.1	-	26	3713	c.3630C>T	c.(3628-3630)ttC>ttT	p.F1210F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1210					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGACCAGTGGAAGGTCAGGC	0.627000														63			26		0	0	0.004656	0	0
CLPB	81570	broad.mit.edu	37	11	72145328	72145328	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:72145328G>A	uc001osj.3	-	0	241	c.191C>T	c.(190-192)tCc>tTc	p.S64F	CLPB_uc010rqx.2_5'UTR|CLPB_uc010rqy.2_Missense_Mutation_p.S64F|CLPB_uc001osk.3_Missense_Mutation_p.S64F|CLPB_uc010rqz.2_5'UTR	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	64					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCCACGTCCGGAGAACAAGGC	0.682000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			46		0	0	0.003610	0	0
IKZF3	22806	broad.mit.edu	37	17	37944556	37944556	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:37944556C>T	uc002hsu.3	-	5	726	c.664G>A	c.(664-666)Gag>Aag	p.E222K	IKZF3_uc002htd.3_Missense_Mutation_p.E188K|IKZF3_uc010cwd.3_Missense_Mutation_p.E79K|IKZF3_uc002hsv.3_Intron|IKZF3_uc010cwe.3_Intron|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Intron|IKZF3_uc002hsx.3_Missense_Mutation_p.E166K|IKZF3_uc002hsy.3_Missense_Mutation_p.E222K|IKZF3_uc002hsz.3_Intron|IKZF3_uc002hta.3_Intron|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.E135K|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	222					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCAGCGCTCCTTGTGCTCC	0.498000														23			12		0	0	0.000978	0	0
SFMBT2	57713	broad.mit.edu	37	10	7213013	7213013	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:7213013C>T	uc009xio.2	-	19	2512	c.2421G>A	c.(2419-2421)acG>acA	p.T807T	SFMBT2_uc001ijn.2_Silent_p.T807T|SFMBT2_uc010qay.2_Silent_p.T642T	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	807					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						CCTCCTGTTTCGTGTCCTGCA	0.617000														43			27		0	0	0.001061	0	0
KRT23	25984	broad.mit.edu	37	17	39092725	39092725	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:39092725G>A	uc002hvm.1	-	1	720	c.131C>T	c.(130-132)tCc>tTc	p.S44F	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.S44F|KRT23_uc002hvn.1_Missense_Mutation_p.S44F	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	44	Head.					intermediate filament	structural molecule activity	p.S44F(2)		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)				GAAGGACAGGGAGATGCGGGC	0.701000														45			9		0	0	0.000673	0	0
LRP1B	53353	broad.mit.edu	37	2	141214161	141214161	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:141214161G>A	uc002tvj.1	-	61	10798	c.9826C>T	c.(9826-9828)Ctc>Ttc	p.L3276F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3276					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCATGCAGAGATGTTTGGAG	0.383000										TSP Lung(27;0.18)				39			24		0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179595331	179595331	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179595331C>T	uc021vsy.1	-	57	14422	c.14197G>A	c.(14197-14199)Gaa>Aaa	p.E4733K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1394K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5660	Ig-like 27.						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)			TGGCTGATTTCCAAGAAGGCA	0.448000														49			68		0	0	0.003610	0	0
TPP1	1200	broad.mit.edu	37	11	6637555	6637555	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:6637555A>G	uc001mel.1	-	7	1127	c.1066T>C	c.(1066-1068)Ttc>Ctc	p.F356L	TPP1_uc001mek.1_Missense_Mutation_p.F113L	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	356					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	p.L355F(1)		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)		CCTGAGGCGAAGAGCAGGGTG	0.567000														74			24		0	0	0.001271	0	0
EMR4P	326342	broad.mit.edu	37	19	6981226	6981226	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:6981226C>T	uc010xjk.2	-	6	454	c.-322_splice	c.e6-1		EMR4P_uc010dve.1_Intron					Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene (EMR4P), non-coding RNA.																		CTCAGATTTTCCTTCCAAAAA	0.408000														29			6		0	0	0.001168	0	0
PEX5L	51555	broad.mit.edu	37	3	179689405	179689405	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:179689405C>T	uc003fki.1	-	1	200	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Missense_Mutation_p.E24K|PEX5L_uc010hxd.1_Intron|PEX5L_uc011bqg.1_Intron|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	24					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			acaattatttcgaggtcttca	0.313000														26			8		0	0	0.000443	0	0
CHIT1	1118	broad.mit.edu	37	1	203188902	203188902	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:203188902G>A	uc001gzn.2	-	7	901	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_Missense_Mutation_p.R60C|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.R260C	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	269					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTGAAGGAGCGTCCGTAGGTA	0.617000														58			16		0	0	0.004007	0	0
PLIN4	729359	broad.mit.edu	37	19	4511419	4511419	+	Silent	SNP	C	T	T	rs71263980		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:4511419C>T	uc002mar.1	-	2	2511	c.2511G>A	c.(2509-2511)ctG>ctA	p.L837L	PLIN4_uc010dub.1_Intron	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	837	27 X 33 AA approximate tandem repeat.			GLKTTQNIA -> SVDTTKTVL (in Ref. 2; BAB67774).		lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGGTCGTTTTCAGCCCAGTTT	0.607000														84			22		0	0	0.003954	0	0
NLRP2	55655	broad.mit.edu	37	19	55494253	55494253	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:55494253C>T	uc021vbq.1	+	5	1298	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L	NLRP2_uc010yfp.2_Missense_Mutation_p.S373L|NLRP2_uc002qij.3_Missense_Mutation_p.S396L|NLRP2_uc010esp.3_Missense_Mutation_p.S374L|NLRP2_uc010esn.3_Missense_Mutation_p.S372L|NLRP2_uc010eso.3_Missense_Mutation_p.S393L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	396	NACHT.				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)		CAGCTGGGCTCGGCCCCCGCG	0.637000														53			10		0	0	0.001368	0	0
CHI3L1	1116	broad.mit.edu	37	1	203152902	203152902	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:203152902G>A	uc001gzi.2	-	4	503	c.332C>T	c.(331-333)tCc>tTc	p.S111F	CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Missense_Mutation_p.S111F	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	111					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTGGGTGTTGGAGGCTATCTT	0.562000														92			15		0	0	0.006122	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147871	82147871	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:82147871G>A	uc001szo.2	-	2	291	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	PPFIA2_uc021rbi.1_Missense_Mutation_p.R44C|PPFIA2_uc021rbj.1_Missense_Mutation_p.R44C|PPFIA2_uc021rbk.1_Missense_Mutation_p.R44C|PPFIA2_uc021rbl.1_Missense_Mutation_p.R44C	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	303								p.R44S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTAGAAGACGATCCCTTTCA	0.527000														11			5		0	0	0.001168	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117364737	117364737	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:117364737G>A	uc003vjf.3	-	18	4403	c.4311C>T	c.(4309-4311)tcC>tcT	p.S1437S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1437								p.S1437S(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGAAACTATGGATAAAGGGA	0.443000														28			18		0	0	0.001882	0	0
IGSF10	285313	broad.mit.edu	37	3	151165675	151165675	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:151165675G>A	uc011bod.2	-	3	2094	c.2094C>T	c.(2092-2094)ctC>ctT	p.L698L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	698					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGATGTACGGAGTTGTGCAC	0.493000														41			14		0	0	0.002450	0	0
PRPF3	9129	broad.mit.edu	37	1	150318499	150318499	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:150318499G>A	uc001eum.4	+	12	1808	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Missense_Mutation_p.R508Q|PRPF3_uc010pcb.2_Missense_Mutation_p.R500Q|PRPF3_uc009wlq.1_Non-coding_Transcript	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	549					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TCCAGAGTTCGAAATTTGAGC	0.453000														101			268		0	0	0.003610	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500846	149500846	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:149500846G>A	uc003lro.3	-	16	2853	c.2384C>T	c.(2383-2385)tCt>tTt	p.S795F	PDGFRB_uc010jhd.3_Missense_Mutation_p.S634F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	795	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGCACTGGAGACTCGTTGAT	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									35			13		0	0	0.001368	0	0
C7orf58	79974	broad.mit.edu	37	7	120906769	120906769	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:120906769C>T	uc003vjq.4	+	19	2987	c.2540C>T	c.(2539-2541)cCc>cTc	p.P847L		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	847						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AGATCACGTCCCCTAGAGAAT	0.398000														53			38		0	0	0.002222	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673327	25673327	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:25673327G>A	uc003grr.3	+	8	1113	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K	SLC34A2_uc003grs.3_Silent_p.K343K|SLC34A2_uc010iev.3_Silent_p.K343K	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	344					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGACCTACAAGGAGAACATCG	0.502000			T	ROS1	NSCLC									50			98		0	0	0.003610	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319617	21319617	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:21319617C>T	uc021tss.1	+	2	1333	c.963C>T	c.(961-963)atC>atT	p.I321I	KCNJ18_uc002gyv.1_Silent_p.I321I|KCNJ18_uc021tst.1_Silent_p.I321I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	321						integral to membrane	inward rectifier potassium channel activity										CCAATGAGATCCTGTGGGGTC	0.577000														178			17		0	0	0.004007	0	0
PCSK1	5122	broad.mit.edu	37	5	95735892	95735892	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:95735892T>G	uc003kls.2	-	10	1436	c.1197_splice	c.e10-1	p.N399_splice	PCSK1_uc010jbi.2_Splice_Site_p.N89_splice|PCSK1_uc021ybq.1_Splice_Site_p.N352_splice	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	399	Catalytic.				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)	AGATTTGGGCTGGAGGGGAAG	0.478000														56			21		0	0	0.001523	0	0
FIBIN	387758	broad.mit.edu	37	11	27016635	27016635	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:27016635G>A	uc001mrd.3	+	0	1008	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	188						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GGACAAATACGAGCTGCTGGC	0.517000														58			15		0	0	0.004007	0	0
PLCD4	84812	broad.mit.edu	37	2	219500990	219500990	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:219500990C>A	uc021vwx.1	+	14	2396	c.2057C>A	c.(2056-2058)aCa>aAa	p.T686K		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	686	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGGGGGCAGACACTATGTTTC	0.433000														150			55		4.96213e-28	9.7822e-28	0.003610	1	0
DNAH7	56171	broad.mit.edu	37	2	196664077	196664077	+	Silent	SNP	G	A	A	rs76632128	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:196664077G>A	uc002utj.4	-	54	10397	c.10296C>T	c.(10294-10296)ttC>ttT	p.F3432F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3432	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F3432F(2)		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						GAGAGAGCACGAAAATCAGTG	0.413000														76			109		0	0	0.003610	0	0
KIF18B	146909	broad.mit.edu	37	17	43010091	43010091	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:43010091G>A	uc010wji.2	-	8	1289	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P	KIF18B_uc002iht.3_Silent_p.P396P|KIF18B_uc010wjh.2_Silent_p.P396P	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CCTGTGGTGGGGGCTGGCCTC	0.637000														103			38		0	0	0.002222	0	0
OR6K3	391114	broad.mit.edu	37	1	158687515	158687515	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:158687515G>A	uc021pbn.1	-	0	391	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ATTTGATAGCGAAGAGGGTTG	0.493000														153			33		0	0	0.003271	0	0
OR51T1	401665	broad.mit.edu	37	11	4903372	4903372	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:4903372C>T	uc010qyp.2	+	0	324	c.324C>T	c.(322-324)ccC>ccT	p.P108P		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P108S(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGACCCTTCCCACTGTGCTTG	0.458000														45			27		0	0	0.001061	0	0
IARS2	55699	broad.mit.edu	37	1	220298681	220298681	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:220298681G>A	uc001hmc.3	+	13	1847	c.1743_splice	c.e13+1	p.E581_splice		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	581					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TCTTATCTGAGGTAAATTTCT	0.343000														49			7		0	0	0.003080	0	0
BIRC7	79444	broad.mit.edu	37	20	61869824	61869824	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:61869824T>G	uc002yej.3	+	2	699	c.526T>G	c.(526-528)Tcc>Gcc	p.S176A	BIRC7_uc010gkc.1_Missense_Mutation_p.S176A|BIRC7_uc002yei.3_Missense_Mutation_p.S176A|MIR3196_uc021wga.1_5'Flank	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA.	176					DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GCTGCTGGGCTCCTGGGTGAG	0.622000														26			20		0	0	0.000958	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552601	43552601	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:43552601G>A	uc002ija.3	-	3	958	c.788C>T	c.(787-789)tCc>tTc	p.S263F	PLEKHM1_uc010wjm.2_Missense_Mutation_p.S235F|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S212F	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	263					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TAGGCTGCAGGACAGCTGGGA	0.557000														39			10		0	0	0.002450	0	0
PLCG2	5336	broad.mit.edu	37	16	81979868	81979868	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:81979868G>A	uc002fgt.3	+	31	3748	c.3570_splice	c.e31+1	p.L1190_splice		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1190					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGCCAGTCCTGGTGAGTGGAG	0.527000														54			19		0	0	0.000958	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679151	176679151	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:176679151G>A	uc001gkz.3	+	10	4654	c.3490G>A	c.(3490-3492)Gat>Aat	p.D1164N	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1164					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTATGAGGGAGATGGCATATG	0.423000														152			36		0	0	0.001706	0	0
IGSF1	3547	broad.mit.edu	37	X	130416672	130416672	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:130416672G>A	uc004ewe.4	-	6	1275	c.992C>T	c.(991-993)gCt>gTt	p.A331V	IGSF1_uc004ewd.3_Missense_Mutation_p.A331V|IGSF1_uc022cdv.1_Missense_Mutation_p.A322V|IGSF1_uc004ewf.2_Missense_Mutation_p.A311V	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	331	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTGGACCACAGCACTGGGCCG	0.498000														3			24		0	0	0.005443	0	0
XYLT2	64132	broad.mit.edu	37	17	48433213	48433213	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:48433213G>A	uc002iqo.3	+	5	1269	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	387					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CTGGGCGAGCGGCAGATCCCA	0.597000														28			11		0	0	0.000978	0	0
ADAM32	203102	broad.mit.edu	37	8	39111981	39111981	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:39111981C>T	uc003xmt.4	+	17	2196	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	ADAM32_uc011lch.2_Missense_Mutation_p.P552S|ADAM32_uc003xmu.4_Missense_Mutation_p.P545S|ADAM32_uc003xmv.3_Missense_Mutation_p.P75S	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	651	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTATAAGCCTCCAAACTGCCA	0.333000														12			10		0	0	0.001855	0	0
KCTD18	130535	broad.mit.edu	37	2	201355076	201355076	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:201355076G>A	uc002uvs.3	-	6	1545	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	KCTD18_uc002uvt.3_Missense_Mutation_p.P343L	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	343						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAAGCCTGAGGATGCCCAGG	0.627000														61			28		0	0	0.001271	0	0
ACIN1	22985	broad.mit.edu	37	14	23528545	23528546	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:23528545_23528546GT>AG	uc001wit.4	-	18	4165_4166	c.3837_3838AC>CT	c.(3835-3840)aaacgt>aaCTgt	p.1279_1280KR>NC	CDH24_uc001wil.3_5'Flank|CDH24_uc010akf.3_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.521_522KR>NC|ACIN1_uc001wiq.4_Missense_Mutation_p.521_522KR>NC|ACIN1_uc001wir.4_Missense_Mutation_p.552_553KR>NC|ACIN1_uc001wis.4_Missense_Mutation_p.960_961KR>NC|ACIN1_uc010akg.3_Missense_Mutation_p.1266_1267KR>NC|ACIN1_uc010tnj.2_Missense_Mutation_p.1239_1240KR>NC	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1279	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGCTCCCGACGTTTCTCTCGCT	0.614000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		0			7		0	0	0.004672	0	0
OR8D1	283159	broad.mit.edu	37	11	124180491	124180492	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:124180491_124180492GG>AA	uc010sag.2	-	0	171_172	c.171_172CC>TT	c.(169-174)accccc>acTTcc	p.P58S		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TAGTACATGGGGGTGTGAAGTA	0.490000														30			37		0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	215990524	215990524	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:215990524C>T	uc001hku.1	-	47	9772	c.9385G>A	c.(9385-9387)Gat>Aat	p.D3129N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3129	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACACCCAATCAATTTGAAGA	0.378000										HNSCC(13;0.011)				26			74		0	0	0.003610	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289124	98289124	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:98289124G>A	uc003yhy.3	-	0	1053	c.949C>T	c.(949-951)Cct>Tct	p.P317S		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	317					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGCCAGAAGGACCACACCCA	0.502000														82			14		0	0	0.002450	0	0
NLRC3	197358	broad.mit.edu	37	16	3614585	3614585	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:3614585G>A	uc010btn.3	-	4	764	c.353C>T	c.(352-354)cCc>cTc	p.P118L		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	118					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						GGTCCTGGCGGGGTGCCCGCC	0.706000														31			16		0	0	0.006122	0	0
SPTA1	6708	broad.mit.edu	37	1	158590251	158590251	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:158590251C>T	uc001fst.1	-	43	6325	c.6126G>A	c.(6124-6126)gaG>gaA	p.E2042E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2042					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CGAACAGGTCCTCAGCCTGCA	0.418000														36			7		0	0	0.003080	0	0
PGBD4	161779	broad.mit.edu	37	15	34396452	34396452	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:34396452C>T	uc001zho.3	+	0	2179	c.1720C>T	c.(1720-1722)Ccg>Tcg	p.P574S	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	574										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTGTGTTGTTCCGTGCTTTGA	0.383000														28			30		0	0	0.004289	0	0
PDZD2	23037	broad.mit.edu	37	5	32087979	32087979	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:32087979C>T	uc003jhl.3	+	19	4813	c.4425C>T	c.(4423-4425)gtC>gtT	p.V1475V	PDZD2_uc003jhm.3_Silent_p.V1475V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1475					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCGAACCAGTCCCGGGGGGCC	0.677000														17			9		0	0	0.004482	0	0
TRANK1	9881	broad.mit.edu	37	3	36874608	36874608	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:36874608G>A	uc003cgj.3	-	20	6582	c.6334C>T	c.(6334-6336)Cat>Tat	p.H2112Y		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2112					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						ATCAAAAAATGATCTTTTGTT	0.423000														20			5		0	0	0.000602	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998871	72998871	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:72998871G>A	uc002lly.3	+	1	1937	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	TSHZ1_uc021uln.1_Silent_p.E458E	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	503						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAGAGCCAGAGAAGGAGAAGC	0.607000														103			30		0	0	0.002836	0	0
ESRRG	2104	broad.mit.edu	37	1	216692542	216692542	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:216692542C>T	uc001hkw.2	-	5	1257	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	ESRRG_uc009xdp.1_Missense_Mutation_p.E339K|ESRRG_uc001hky.1_Missense_Mutation_p.E339K|ESRRG_uc001hkz.2_Missense_Mutation_p.E300K|ESRRG_uc010puc.2_Missense_Mutation_p.E339K|ESRRG_uc001hla.2_Missense_Mutation_p.E339K|ESRRG_uc001hlb.2_Missense_Mutation_p.E339K|ESRRG_uc010pud.2_Missense_Mutation_p.E177K|ESRRG_uc021pja.1_Missense_Mutation_p.E111K|ESRRG_uc001hlc.1_Missense_Mutation_p.E339K|ESRRG_uc001hld.1_Missense_Mutation_p.E339K|ESRRG_uc001hkx.2_Missense_Mutation_p.E374K|ESRRG_uc009xdo.2_Missense_Mutation_p.E339K|ESRRG_uc001hle.2_Missense_Mutation_p.E339K|ESRRG_uc021piz.1_Missense_Mutation_p.E339K	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	362					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCTTCTTTTTCCAGCTTCATG	0.358000														11			46		0	0	0.003610	0	0
PPP1R7	5510	broad.mit.edu	37	2	242105766	242105766	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:242105766C>T	uc002wat.1	+	7	738	c.729C>T	c.(727-729)acC>acT	p.T243T	PPP1R7_uc010fzm.1_Silent_p.T227T|PPP1R7_uc002was.3_Silent_p.T243T|PPP1R7_uc002wau.1_Silent_p.T200T	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.	243						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		ACCGGCTGACCAAGATCGAGG	0.507000														35			8		0	0	0.004482	0	0
CASC3	22794	broad.mit.edu	37	17	38319959	38319959	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:38319959C>T	uc010cwt.1	+	6	1306	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	CASC3_uc010cws.1_Silent_p.G337G|CASC3_uc002hue.3_Silent_p.G337G	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	337					RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCATGGTGGCCGGTCTGGTG	0.562000														74			116		0	0	0.003610	0	0
NUP214	8021	broad.mit.edu	37	9	134020013	134020013	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:134020013C>T	uc004cag.3	+	11	1752	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S	NUP214_uc004cah.3_Silent_p.S547S|NUP214_uc004cai.3_5'UTR|NUP214_uc004caf.1_Silent_p.S547S|NUP214_uc010mzf.3_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	547	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTTCATTCTCCTTTGGATCAT	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									34			16		0	0	0.000958	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840794	1840794	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:1840794C>G	uc002ftp.3	-	1	341	c.322G>C	c.(322-324)Ggc>Cgc	p.G108R		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	108					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CGGTTGTCGCCGAGGTCCAGC	0.637000														37			14		0	0	0.004007	0	0
IGF2R	3482	broad.mit.edu	37	6	160505109	160505109	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:160505109C>T	uc003qta.3	+	39	6109	c.5961C>T	c.(5959-5961)tgC>tgT	p.C1987C		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1987					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGTTGTCTGCCCTCCAAAGA	0.498000														7			43		0	0	0.002522	0	0
LMOD3	56203	broad.mit.edu	37	3	69171496	69171496	+	Silent	SNP	G	A	A	rs141377610	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:69171496G>A	uc003dns.2	-	0	251	c.42C>T	c.(40-42)ctC>ctT	p.L14L	LMOD3_uc003dnt.2_Silent_p.L14L	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	14						cytoplasm|cytoskeleton	tropomyosin binding	p.L14delL(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCTCCTCATCGAGAAGTTCTT	0.363000														15			4		0	0	0.000248	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408420	75408420	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:75408420C>T	uc001jut.4	-	3	1142	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNPO2L_uc001jus.4_Silent_p.T106T	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	330						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGGACTCACTCGTGGGGGGAA	0.607000														29			14		0	0	0.002450	0	0
XRCC1	7515	broad.mit.edu	37	19	44057650	44057650	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:44057650G>A	uc002owt.2	-	5	624	c.504C>T	c.(502-504)acC>acT	p.T168T	XRCC1_uc010xwp.1_Silent_p.T137T	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	168					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGCCAAGCTTGGTCACTGTCA	0.597000								Other BER factors						43			32		0	0	0.002445	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64599960	64599960	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:64599960G>A	uc001obs.4	-	26	3027	c.3027C>T	c.(3025-3027)acC>acT	p.T1009T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1009	PH.				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						CCAGGACAGGGGTAGCCGAGA	0.592000														27			17		0	0	0.000958	0	0
SPESP1	246777	broad.mit.edu	37	15	69238462	69238462	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:69238462G>A	uc002arn.2	+	1	743	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	197					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TACAGAATCAGAAGATGTTCC	0.398000														71			56		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141747669	141747669	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:141747669G>A	uc003vwy.3	+	21	2637	c.2583G>A	c.(2581-2583)acG>acA	p.T861T		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	861	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)	ATGGGGAAACGAAGGGTGAGC	0.458000														18			10		0	0	0.000673	0	0
IP6K2	51447	broad.mit.edu	37	3	48725997	48725997	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:48725997G>A	uc003cuq.3	-	5	1451	c.990C>T	c.(988-990)tcC>tcT	p.S330S	NCKIPSD_uc003cun.3_5'Flank|NCKIPSD_uc003cum.3_5'Flank|NCKIPSD_uc010hkh.2_5'Flank|IP6K2_uc003cup.3_Silent_p.S330S	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	330					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TGACCAGCAGGGAGCTTGAGT	0.567000														40			19		0	0	0.001523	0	0
C10orf67	256815	broad.mit.edu	37	10	23611392	23611392	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:23611392T>G	uc010qcx.2	-	2	471	c.405A>C	c.(403-405)aaA>aaC	p.K135N		NM_153714	NP_714925	Q8IYJ2	CJ067_HUMAN	Homo sapiens chromosome 10 open reading frame 67 (C10orf67), mRNA.	135										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						AAGATTCCTCTTTCAGTCGGT	0.353000														41			30		0	0	0.003271	0	0
MEST	4232	broad.mit.edu	37	7	130139723	130139723	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:130139723T>A	uc003vqg.3	+	6	799	c.543T>A	c.(541-543)ttT>ttA	p.F181L	MEST_uc003vqc.3_Missense_Mutation_p.F172L|MEST_uc003vqd.3_Missense_Mutation_p.F172L|MEST_uc022alp.1_Missense_Mutation_p.F172L|MEST_uc003vqf.3_Missense_Mutation_p.F172L|MEST_uc011kph.2_Missense_Mutation_p.F167L	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	181					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CAGGTATCTTTCCTGAGACTC	0.403000														511			127		0	0	0.003610	0	0
ITGAL	3683	broad.mit.edu	37	16	30510543	30510543	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:30510543C>T	uc002dyi.4	+	15	2157	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	ITGAL_uc002dyj.4_Missense_Mutation_p.P578S|ITGAL_uc010vev.2_Missense_Mutation_p.P57S	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	661					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GTCTCTCATCCCCCAGTTCCA	0.507000														45			47		0	0	0.003610	0	0
LRRC7	57554	broad.mit.edu	37	1	70478688	70478688	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:70478688C>T	uc001dep.3	+	10	1082	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	351						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						ACAGTCATGTCTCTACGCTCC	0.308000														70			83		0	0	0.003610	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566762	45566762	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:45566762G>A	uc010dnv.3	-	2	1219	c.783C>T	c.(781-783)gcC>gcT	p.A261A	ZBTB7C_uc002ldb.3_Silent_p.A239A|ZBTB7C_uc010dnu.3_Silent_p.A248A|ZBTB7C_uc010dnw.3_Silent_p.A239A|ZBTB7C_uc010dnx.1_Silent_p.A239A|ZBTB7C_uc010dny.1_Silent_p.A239A|ZBTB7C_uc010dnz.1_Silent_p.A261A|ZBTB7C_uc010doi.1_Silent_p.A239A|ZBTB7C_uc010doj.1_Silent_p.A248A|ZBTB7C_uc010dok.1_Silent_p.A288A|ZBTB7C_uc010dol.1_Silent_p.A248A|ZBTB7C_uc010doa.1_Silent_p.A261A|ZBTB7C_uc010dob.1_Silent_p.A239A|ZBTB7C_uc010doc.1_Silent_p.A248A|ZBTB7C_uc010dod.1_Silent_p.A261A|ZBTB7C_uc010doe.1_Silent_p.A239A|ZBTB7C_uc010dof.1_Silent_p.A239A|ZBTB7C_uc010dog.1_Silent_p.A239A|ZBTB7C_uc010doh.1_Silent_p.A248A|ZBTB7C_uc010dom.1_Silent_p.A248A|ZBTB7C_uc010don.1_Silent_p.A247A|ZBTB7C_uc010dop.1_Silent_p.A239A|ZBTB7C_uc010doq.1_Silent_p.A248A|ZBTB7C_uc010dor.1_Silent_p.A261A|ZBTB7C_uc010dos.1_Silent_p.A239A|ZBTB7C_uc010dot.1_Silent_p.A239A|ZBTB7C_uc010doo.1_Silent_p.A239A|ZBTB7C_uc010dou.1_Silent_p.A248A	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	239						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CGGGGATGTTGGCCTTGGGGT	0.607000														26			21		0	0	0.001523	0	0
TCOF1	6949	broad.mit.edu	37	5	149753761	149753761	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:149753761C>T	uc003lry.3	+	7	1003	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	TCOF1_uc003lrw.3_Nonsense_Mutation_p.Q299*|TCOF1_uc003lrz.3_Nonsense_Mutation_p.Q299*|TCOF1_uc011dch.2_Nonsense_Mutation_p.Q299*|TCOF1_uc003lrx.3_Nonsense_Mutation_p.Q222*|TCOF1_uc003lsa.3_Nonsense_Mutation_p.Q222*|TCOF1_uc011dci.1_5'Flank	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	299					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAATTCTCCAGGTCAGAGC	0.567000														5			4		0	0	0.000248	0	0
PTPN9	5780	broad.mit.edu	37	15	75763107	75763107	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:75763107G>A	uc002bal.3	-	10	1781	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	425	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCCAAATCGGATCCGAGAG	0.458000														72			62		0	0	0.003610	0	0
ADRBK2	157	broad.mit.edu	37	22	26110410	26110410	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:26110410C>T	uc003abx.4	+	17	1674	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	ADRBK2_uc003abw.2_Silent_p.F396F|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	509	AGC-kinase C-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACAAGAACTTCCCTTTGGTCA	0.398000														3			47		0	0	0.003610	0	0
MAPK10	5602	broad.mit.edu	37	4	86985430	86985430	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:86985430C>A	uc003hps.3	-	10	1785	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	MAPK10_uc010ikg.3_Nonsense_Mutation_p.E329*|MAPK10_uc003hpr.3_Nonsense_Mutation_p.E329*|MAPK10_uc003hpt.3_Nonsense_Mutation_p.E367*|MAPK10_uc003hpu.3_Nonsense_Mutation_p.E367*|MAPK10_uc003hpv.3_Nonsense_Mutation_p.E222*|MAPK10_uc003hpn.3_Nonsense_Mutation_p.E115*|MAPK10_uc011ccw.2_Nonsense_Mutation_p.E253*|MAPK10_uc003hpo.3_Nonsense_Mutation_p.E222*|MAPK10_uc003hpp.3_Nonsense_Mutation_p.E222*	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	367					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GCCTCCACTTCGGCTGGGTCA	0.443000														78			29		3.03874e-20	5.97825e-20	0.003271	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12835722	12835722	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:12835722G>A	uc001aui.3	+	1	351	c.324G>A	c.(322-324)gtG>gtA	p.V108V		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	108										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGGAATGTGGATGAGAACT	0.527000														90			156		0	0	0.003610	0	0
WDR49	151790	broad.mit.edu	37	3	167247024	167247024	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:167247024C>T	uc003fev.1	-	9	1470	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	WDR49_uc003feu.1_Missense_Mutation_p.G214E|WDR49_uc011bpd.1_Missense_Mutation_p.G453E|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	389										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAGGTTAGCTCCTCCTAACAT	0.393000														21			26		0	0	0.005443	0	0
WNT2B	7482	broad.mit.edu	37	1	113062964	113062964	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:113062964A>G	uc001ecb.3	+	4	1524	c.1009A>G	c.(1009-1011)Atc>Gtc	p.I337V	WNT2B_uc001eca.3_Missense_Mutation_p.I318V|WNT2B_uc009wgg.3_Missense_Mutation_p.I245V	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	337					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGTTGTGAAATCATGTGCTG	0.532000														24			8		0	0	0.000443	0	0
KCNG2	26251	broad.mit.edu	37	18	77659241	77659241	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:77659241G>A	uc010xfl.2	+	1	826	c.826G>A	c.(826-828)Ggg>Agg	p.G276R		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	276					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGGCCCGGGCGGGACCAAGCT	0.716000														37			6		0	0	0.003080	0	0
UNC13B	10497	broad.mit.edu	37	9	35295821	35295821	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:35295821C>T	uc003zwr.3	+	7	947	c.655C>T	c.(655-657)Ccg>Tcg	p.P219S	UNC13B_uc010mkl.1_Missense_Mutation_p.P219S|UNC13B_uc003zwq.3_Missense_Mutation_p.P219S	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	219					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTTCCCTGTGCCGGTGCGATC	0.547000														5			39		0	0	0.005524	0	0
FAM49B	51571	broad.mit.edu	37	8	130866549	130866549	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:130866549C>T	uc003yss.3	-	9	1028	c.479G>A	c.(478-480)aGa>aAa	p.R160K	FAM49B_uc003yst.3_Missense_Mutation_p.R160K|FAM49B_uc003ysu.3_Missense_Mutation_p.R160K|FAM49B_uc003ysw.3_Missense_Mutation_p.R160K|FAM49B_uc003ysx.3_Missense_Mutation_p.R160K|FAM49B_uc003ysy.1_Missense_Mutation_p.R160K	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	Homo sapiens family with sequence similarity 49, member B (FAM49B), mRNA.	160										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CAATGTTCTTCTATAATAGCT	0.338000														81			17		0	0	0.000958	0	0
GFM2	84340	broad.mit.edu	37	5	74046440	74046440	+	Silent	SNP	A	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:74046440A>C	uc010izj.1	-	7	905	c.579T>G	c.(577-579)ggT>ggG	p.G193G	GFM2_uc003kdh.1_Silent_p.G161G|GFM2_uc003kdi.1_Silent_p.G161G|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Silent_p.G161G|GFM2_uc010izl.1_Silent_p.G119G	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAGCCACTGCACCATCCAACA	0.378000														36			14		0	0	0.004990	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409792	22409792	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:22409792G>A	uc021rpl.1	+	1	325	c.282G>A	c.(280-282)ttG>ttA	p.L94L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Silent_p.L94L					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		CTTTCCACTTGGAGAAAGGCT	0.502000														27			13		0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179489255	179489255	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179489255C>T	uc021vsy.1	-	190	37273	c.37048G>A	c.(37048-37050)Gat>Aat	p.D12350N	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D6045N|TTN_uc021vta.1_Missense_Mutation_p.D5978N|TTN_uc021vtb.1_Missense_Mutation_p.D5853N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13277							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R12349C(1)		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)			GTTTTAATATCCTCTGGGGTA	0.368000														73			31		0	0	0.002445	0	0
CD93	22918	broad.mit.edu	37	20	23066300	23066300	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:23066300C>T	uc002wsv.3	-	0	678	c.530G>A	c.(529-531)gGc>gAc	p.G177D		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	177					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACACGAAGCCCTCAATGTT	0.657000														52			31		0	0	0.003755	0	0
SNRPN	6638	broad.mit.edu	37	15	25207312	25207312	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:25207312A>T	uc001ywu.3	+	1	192	c.66A>T	c.(64-66)gaA>gaT	p.E22D	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_5'UTR|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'UTR	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CAGAGGTGGAAGTCCAAGTCA	0.458000									Prader-Willi syndrome					30			18		0	0	0.001216	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067950	11067950	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:11067950C>T	uc010hdq.3	+	9	1394	c.983C>T	c.(982-984)tCg>tTg	p.S328L		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	328					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGCATCAATTCGTGCACCAGC	0.577000														83			38		0	0	0.001951	0	0
MAGI3	260425	broad.mit.edu	37	1	114196578	114196578	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:114196578G>A	uc001edk.3	+	14	2748	c.2567G>A	c.(2566-2568)cGa>cAa	p.R856Q	MAGI3_uc001edh.3_Missense_Mutation_p.R881Q|MAGI3_uc001edi.4_Missense_Mutation_p.R856Q|MAGI3_uc010owm.2_Missense_Mutation_p.R881Q|MAGI3_uc001edj.3_Missense_Mutation_p.R577Q	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	881					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		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)		GTCTTGCAACGAAAAGAAAAT	0.507000														228			104		0	0	0.003610	0	0
LHX5	64211	broad.mit.edu	37	12	113906206	113906206	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:113906206G>A	uc001tvj.1	-	2	975	c.401C>T	c.(400-402)tCa>tTa	p.S134L		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	134						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CGTACAGGATGACACTGCGGG	0.677000														9			19		0	0	0.001523	0	0
MME	4311	broad.mit.edu	37	3	154855984	154855984	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:154855984G>A	uc010hvr.1	+	8	1025	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	MME_uc003fab.1_Missense_Mutation_p.E272K|MME_uc003fac.1_Missense_Mutation_p.E272K|MME_uc003fad.1_Missense_Mutation_p.E272K|MME_uc003fae.1_Missense_Mutation_p.E272K	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	272					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCTTGCTTTGGAAATGAATAA	0.358000														39			55		0	0	0.003610	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132565	11132565	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:11132565C>T	uc010dxp.3	+	19	3141	c.2781C>T	c.(2779-2781)ttC>ttT	p.F927F	SMARCA4_uc010dxo.3_Silent_p.F927F|SMARCA4_uc002mqf.4_Silent_p.F927F|SMARCA4_uc002mqg.1_Silent_p.F927F|SMARCA4_uc010dxq.3_Silent_p.F927F|SMARCA4_uc010dxr.3_Silent_p.F927F|SMARCA4_uc002mqj.4_Silent_p.F927F|SMARCA4_uc010dxs.3_Silent_p.F927F|SMARCA4_uc010dxt.1_Silent_p.F147F|SMARCA4_uc002mqh.4_Silent_p.F50F|SMARCA4_uc002mqi.1_Silent_p.F130F	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	927	Helicase ATP-binding.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCTCAACTTCCTGCTGCCCA	0.622000			"""F, N, Mis"""		NSCLC									24			31		0	0	0.002096	0	0
RTN2	6253	broad.mit.edu	37	19	45997557	45997557	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:45997557C>T	uc002pcb.3	-	3	911	c.681G>A	c.(679-681)tcG>tcA	p.S227S	RTN2_uc002pcc.3_Silent_p.S227S|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	227						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GCCCAGAGTTCGAATCTCGCG	0.632000														42			16		0	0	0.000958	0	0
USP36	57602	broad.mit.edu	37	17	76803147	76803147	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:76803147G>A	uc002jvz.1	-	13	2304	c.1979C>T	c.(1978-1980)tCt>tTt	p.S660F	USP36_uc002jwa.1_Missense_Mutation_p.S660F|USP36_uc002jwb.1_Missense_Mutation_p.S297F|USP36_uc002jwc.1_Missense_Mutation_p.S360F	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	660					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CACCGTCTTAGAATCTGCTCC	0.587000														21			36		0	0	0.003271	0	0
TCOF1	6949	broad.mit.edu	37	5	149755438	149755438	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:149755438G>A	uc003lry.3	+	11	1967	c.1859G>A	c.(1858-1860)aGt>aAt	p.S620N	TCOF1_uc003lrw.3_Missense_Mutation_p.S620N|TCOF1_uc003lrz.3_Missense_Mutation_p.S620N|TCOF1_uc011dch.2_Missense_Mutation_p.S620N|TCOF1_uc003lrx.3_Missense_Mutation_p.S543N|TCOF1_uc003lsa.3_Missense_Mutation_p.S543N|TCOF1_uc011dci.1_Missense_Mutation_p.S109N	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	620					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGCGGACAGTGAGGAGGCA	0.642000														15			16		0	0	0.006122	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42839718	42839718	+	Silent	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:42839718T>C	uc010gor.3	-	12	1582	c.1521A>G	c.(1519-1521)agA>agG	p.R507R	TMPRSS2_uc002yzj.3_Silent_p.R470R|TMPRSS2_uc010gos.1_Silent_p.R470R|TMPRSS2_uc021wjn.1_5'Flank	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	470					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				ACACTCCTGGTCTGTAAGCTT	0.507000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									7			59		0	0	0.003610	0	0
MNDA	4332	broad.mit.edu	37	1	158812064	158812064	+	Missense_Mutation	SNP	G	A	A	rs144926525		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:158812064G>A	uc001fsz.1	+	1	321	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	41	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAAATGCAAGAGGAATACAA	0.343000														27			68		0	0	0.003610	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342294	60342294	+	RNA	SNP	A	C	C	rs76100965		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:60342294A>C	uc010woz.2	-	13		c.1835T>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TAAGTTTAACAAAAAATAAAA	0.483000														97			4		0	0	0.000602	0	0
NOS1	4842	broad.mit.edu	37	12	117665378	117665378	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:117665378G>A	uc001twn.2	-	23	4287	c.3576C>T	c.(3574-3576)ttC>ttT	p.F1192F	NOS1_uc021ren.1_Silent_p.F822F|NOS1_uc021reo.1_Silent_p.F822F|NOS1_uc001twm.2_Silent_p.F1158F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1158	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGATAGATGGGAACTCCTCCA	0.582000														86			25		0	0	0.001271	0	0
GPR98	84059	broad.mit.edu	37	5	90016003	90016003	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:90016003C>T	uc003kju.3	+	43	9682	c.9586C>T	c.(9586-9588)Cct>Tct	p.P3196S	GPR98_uc003kjt.3_Missense_Mutation_p.P902S|GPR98_uc003kjv.3_Missense_Mutation_p.P796S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3196					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)		AAACCAGGCCCCTTTGGGGCT	0.378000														37			14		0	0	0.001855	0	0
TEX14	56155	broad.mit.edu	37	17	56647821	56647821	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:56647821C>A	uc010dcz.2	-	25	3998	c.3880G>T	c.(3880-3882)Gct>Tct	p.A1294S	TEX14_uc002iwr.2_Missense_Mutation_p.A1288S|TEX14_uc002iws.2_Missense_Mutation_p.A1248S|TEX14_uc010dda.2_Missense_Mutation_p.A1028S	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1294						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGATCCAGCCCCAATAAAT	0.438000														91			30		1.12875e-08	2.21162e-08	0.001061	1	0
TBC1D22B	55633	broad.mit.edu	37	6	37250023	37250023	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:37250023C>T	uc003onn.3	+	3	630	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	162						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GCCCATCATCCCCCTCGTTGC	0.542000														55			16		0	0	0.000958	0	0
FAT3	120114	broad.mit.edu	37	11	92088331	92088331	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:92088331C>T	uc001pdj.4	+	0	3070	c.3053C>T	c.(3052-3054)cCt>cTt	p.P1018L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1018	Cadherin 9.				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)				AAAGGGCGGCCTGTCTCTCTG	0.463000										TCGA Ovarian(4;0.039)				189			280		0	0	0.003610	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2321950	2321950	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:2321950C>T	uc003gex.2	-	6	1070	c.750G>A	c.(748-750)gtG>gtA	p.V250V	ZFYVE28_uc011bvk.2_Silent_p.V180V|ZFYVE28_uc011bvl.2_Silent_p.V220V|ZFYVE28_uc003gew.2_Silent_p.V136V	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	250					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						ACATGTCTTCCACCTTGCGGT	0.612000														36			11		0	0	0.004990	0	0
RBMS2	5939	broad.mit.edu	37	12	56975215	56975215	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:56975215G>A	uc001sln.2	+	6	854	c.655G>A	c.(655-657)Gat>Aat	p.D219N	RBMS2_uc010sqp.1_Missense_Mutation_p.D74N|RBMS2_uc010sqq.1_Missense_Mutation_p.D94N|RBMS2_uc009zou.2_5'UTR	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA.	219	RRM 2.				RNA processing	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CAAATTTGCTGATGGCGGGCC	0.537000														38			19		0	0	0.001216	0	0
DDX11L11	0	broad.mit.edu	37	12	92119	92119	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:92119T>C	uc010sdi.1	-	1	219	c.191A>G	c.(190-192)cAc>cGc	p.H64R	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		CGCCAGGCAGTGGTGCAGCTG	0.592000														18			3		0	0	0.004672	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834456	101834456	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:101834456C>T	uc003knn.3	-	0	265	c.93G>A	c.(91-93)aaG>aaA	p.K31K	SLCO6A1_uc003kno.3_Silent_p.K31K|SLCO6A1_uc003knp.3_Silent_p.K31K|SLCO6A1_uc003knq.3_Silent_p.K31K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	31						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCTCCTGTCCTTAGCAGGCT	0.622000														59			119		0	0	0.003610	0	0
PRIM2	5558	broad.mit.edu	37	6	57467182	57467182	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:57467182C>T	uc003pdx.3	+	11	1207	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	375					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCTATCCAATCCACCAAGCCA	0.428000														86			13		0	0	0.002450	0	0
CCDC141	285025	broad.mit.edu	37	2	179702444	179702444	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179702444C>T	uc002une.2	-	22	3620	c.3502G>A	c.(3502-3504)Ggc>Agc	p.G1168S	CCDC141_uc002unf.1_Missense_Mutation_p.G647S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	593							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATTGATGCCCAAAAGATCT	0.468000														48			54		0	0	0.003610	0	0
OR51A4	401666	broad.mit.edu	37	11	4967974	4967974	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:4967974G>A	uc010qys.2	-	0	357	c.357C>T	c.(355-357)atC>atT	p.I119I		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAATGACATGATCAGGAGGA	0.438000														205			62		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	22	22663112	22663112	+	RNA	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:22663112C>T	uc021wml.1	+	30		c.2470C>T			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGGATAAATCCATAAAAATTG	0.289000														36			17		0	0	0.000958	0	0
MED12L	116931	broad.mit.edu	37	3	151067891	151067891	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:151067891C>T	uc003eyp.3	+	14	2319	c.2190C>T	c.(2188-2190)ctC>ctT	p.L730L	MED12L_uc011bnz.2_Silent_p.L590L|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	730					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)			CAATCCTTCTCTATGGAGTCG	0.423000														164			77		0	0	0.003610	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081057	53081057	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:53081057G>A	uc002aci.1	-	0	1153	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	342					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTCCCGGCCGGATTTGAGTTT	0.657000														44			11		0	0	0.001368	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171528	150171528	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:150171528G>A	uc003whj.3	+	3	1441	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	371						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)		AGATTTAGGGGATCAGGATCT	0.388000														115			70		0	0	0.003610	0	0
MET	4233	broad.mit.edu	37	7	116414943	116414943	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:116414943C>T	uc003vij.3	+	14	3224	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	MET_uc010lkh.3_Missense_Mutation_p.P1031S|MET_uc011knj.2_Missense_Mutation_p.P583S	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1013					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(8)|p.L982_D1028del(3)|p.D981_D1028del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGATCAGTTTCCTAATTCATC	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					54			36		0	0	0.001706	0	0
DNAH3	55567	broad.mit.edu	37	16	21033336	21033336	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:21033336G>A	uc010vbe.2	-	39	5733	c.5733C>T	c.(5731-5733)atC>atT	p.I1911I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1911					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P1910A(1)		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)		AGGCAAGGTGGATGGGAGATG	0.473000														46			17		0	0	0.004007	0	0
PLD2	5338	broad.mit.edu	37	17	4711685	4711685	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:4711685C>T	uc002fzc.3	+	3	483	c.357C>T	c.(355-357)gtC>gtT	p.V119V	PLD2_uc010vsj.2_5'UTR|PLD2_uc002fzd.3_Silent_p.V119V	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	119	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACACAAAGTCTTGATGAGTC	0.567000														148			49		0	0	0.003610	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698255	17698255	+	Silent	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:17698255A>T	uc002rcl.1	-	0	1452	c.1428T>A	c.(1426-1428)acT>acA	p.T476T	RAD51AP2_uc010exn.1_Silent_p.T467T	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	476										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)					TTAGCCAAACAGTCGTTATTA	0.338000														25			8		0	0	0.003080	0	0
SEC1	653677	broad.mit.edu	37	19	49183688	49183688	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:49183688C>T	uc010xzv.2	+	4	835	c.708C>T	c.(706-708)atC>atT	p.I236I	SEC1_uc002pka.3_Silent_p.I196I|SEC1_uc010xzw.2_Silent_p.I153I|SEC1_uc010ema.3_Silent_p.I142I					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		ACCGCCACATCCCGGGGCGCT	0.652000														33			9		0	0	0.000443	0	0
C11orf40	143501	broad.mit.edu	37	11	4593483	4593483	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:4593483G>A	uc010qyg.2	-	2	350	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	Homo sapiens chromosome 11 open reading frame 40 (C11orf40), mRNA.	117										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGAGATCCAGGAAATAGAGAT	0.458000														16			31		0	0	0.003755	0	0
ABI3	51225	broad.mit.edu	37	17	47299496	47299496	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:47299496C>T	uc002iop.1	+	6	1344	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ABI3_uc002ioq.1_Silent_p.P276P	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	282	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CTCCTCCACCCCTGGATGGAG	0.592000										HNSCC(55;0.14)				68			41		0	0	0.003214	0	0
PTPRC	5788	broad.mit.edu	37	1	198671599	198671599	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:198671599C>T	uc001gur.1	+	5	697	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Intron|PTPRC_uc010ppg.1_Missense_Mutation_p.H109Y|PTPRC_uc001guu.1_Missense_Mutation_p.H216Y|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	173					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCTTGCACACCACAGCTCTGC	0.537000														234			46		0	0	0.003610	0	0
PPARG	5468	broad.mit.edu	37	3	12458537	12458537	+	Missense_Mutation	SNP	G	A	A	rs140204299		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:12458537G>A	uc003bwx.3	+	5	1245	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q	PPARG_uc003bwr.3_Missense_Mutation_p.R357Q|PPARG_uc003bws.3_Missense_Mutation_p.R357Q|PPARG_uc003bwu.3_Missense_Mutation_p.R357Q|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	385	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGAGCCTGCGAAAGCCTTTT	0.443000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							248			307		0	0	0.003610	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600958	161600958	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:161600958G>A	uc009wul.3	-	0	295	c.35C>T	c.(34-36)cCc>cTc	p.P12L	FCGR3B_uc021pdo.1_Intron	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TAGACAGGAGGGAGTAAACAG	0.512000														40			5		0	0	0.000602	0	0
OR10K1	391109	broad.mit.edu	37	1	158435715	158435715	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:158435715C>T	uc010pij.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(2)|p.D121N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGGCTATGATCGCTATATGGC	0.527000														181			33		0	0	0.002445	0	0
HAP1	9001	broad.mit.edu	37	17	39884452	39884452	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:39884452C>T	uc002hxm.1	-	7	1212	c.1200_splice	c.e7+1	p.M400_splice	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Splice_Site_p.M400_splice|HAP1_uc002hxo.1_Splice_Site_p.M408_splice|HAP1_uc002hxp.1_Splice_Site_p.M400_splice	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	400	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCGACTCACCATCCGGCAG	0.637000														33			9		0	0	0.000978	0	0
CNTN4	152330	broad.mit.edu	37	3	3081908	3081908	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:3081908G>A	uc003bpc.3	+	19	2690	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	CNTN4_uc003bpb.1_Missense_Mutation_p.G455E|CNTN4_uc021wsg.1_Missense_Mutation_p.G784E|CNTN4_uc003bpe.3_Missense_Mutation_p.G456E|CNTN4_uc003bpf.3_Missense_Mutation_p.G455E|CNTN4_uc003bpg.3_Missense_Mutation_p.G40E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	784	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AACAACAAAGGAGAAGGCCCT	0.458000														51			21		0	0	0.001882	0	0
SPEN	23013	broad.mit.edu	37	1	16263664	16263665	+	Missense_Mutation	DNP	CC	TT	TT	rs35291379		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:16263664_16263665CC>TT	uc001axk.1	+	11	10237_10238	c.10033_10034CC>TT	c.(10033-10035)cct>TTt	p.P3345F	SPEN_uc010obp.1_Missense_Mutation_p.P3304F	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3345	Pro-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCAGGGCCCTCCTCCTGAAGGT	0.639000														64			20		0	0	0.004672	0	0
VCL	7414	broad.mit.edu	37	10	75834566	75834566	+	Missense_Mutation	SNP	C	T	T	rs139312390	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:75834566C>T	uc001jwd.3	+	5	782	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	VCL_uc009xrr.3_5'UTR|VCL_uc010qky.1_Missense_Mutation_p.R137C|VCL_uc001jwe.3_Missense_Mutation_p.R230C|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	230	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TTTAAAAAATCGCAATTTTAC	0.348000														52			27		0	0	0.001061	0	0
CPA2	1358	broad.mit.edu	37	7	129910623	129910623	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:129910623G>A	uc003vpq.3	+	3	398	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CPA2_uc011kpc.1_Missense_Mutation_p.E127K	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	127					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCATACCCTGGAAGAGGTAGG	0.423000														36			28		0	0	0.001786	0	0
NLRP13	126204	broad.mit.edu	37	19	56419195	56419195	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:56419195C>T	uc010ygg.2	-	6	2435	c.2410G>A	c.(2410-2412)Gct>Act	p.A804T		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	804							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTCTCAAAGCTTTAAGAATC	0.493000														53			60		0	0	0.003610	0	0
RSF1	51773	broad.mit.edu	37	11	77409717	77409717	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:77409717G>A	uc001oyn.3	-	6	2650	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	RSF1_uc001oym.3_Nonsense_Mutation_p.R592*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	844					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.R844*(2)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAGTCCATCGAACTTTGCCT	0.368000														76			31		0	0	0.004289	0	0
OR2T27	403239	broad.mit.edu	37	1	248814140	248814140	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248814140C>T	uc010pzo.2	-	0	46	c.46G>A	c.(46-48)Ggt>Agt	p.G16S		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGAACAAACCCAGAAGGATA	0.453000														75			8		0	0	0.000978	0	0
OBSCN	84033	broad.mit.edu	37	1	228469851	228469852	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:228469851_228469852GG>AA	uc009xez.1	+	30	8459_8460	c.8415_8416GG>AA	c.(8413-8418)ggggag>ggAAag	p.E2806K	OBSCN_uc001hsn.3_Missense_Mutation_p.E2806K|OBSCN_uc001hsp.1_Missense_Mutation_p.E505K|OBSCN_uc001hsq.1_Missense_Mutation_p.E62K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2806	Ig-like 27.				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)				GTGATGCCGGGGAGGTGGTCTT	0.644000														52			6		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9060067	9060067	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9060067G>A	uc002mkp.3	-	2	27583	c.27379C>T	c.(27379-27381)Cct>Tct	p.P9127S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9129	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						ACATCTCCAGGAGTTCTACTC	0.488000														39			13		0	0	0.001368	0	0
RYR3	6263	broad.mit.edu	37	15	33835881	33835881	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:33835881G>A	uc001zhi.3	+	7	775	c.705G>A	c.(703-705)acG>acA	p.T235T	RYR3_uc010bar.3_Silent_p.T235T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	235	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AATGTTTGACGATACCATCTA	0.403000														94			48		0	0	0.003610	0	0
MYO3B	140469	broad.mit.edu	37	2	171356173	171356173	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:171356173C>T	uc002ufy.3	+	26	3287	c.3144C>T	c.(3142-3144)taC>taT	p.Y1048Y	MYO3B_uc002ufv.3_Silent_p.Y1035Y|MYO3B_uc010fqb.1_Silent_p.Y1048Y|MYO3B_uc002ufz.3_Silent_p.Y1048Y|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1048	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCAAATATTACCATGTTGAGC	0.393000														35			9		0	0	0.004482	0	0
OR10S1	219873	broad.mit.edu	37	11	123847609	123847609	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:123847609G>A	uc001pzm.1	-	0	790	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACGTAGTACAGGAGCACCCCA	0.612000														52			28		0	0	0.004656	0	0
SEC63	11231	broad.mit.edu	37	6	108230237	108230237	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:108230237G>A	uc003psc.4	-	7	896	c.627C>T	c.(625-627)ggC>ggT	p.G209G	SEC63_uc003psb.4_Silent_p.G69G	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	209	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ACCACCAAGAGCCCTAAAACA	0.383000														14			10		0	0	0.000978	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933711	94933711	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:94933711C>T	uc001ydf.3	-	2	852	c.691G>A	c.(691-693)Gag>Aag	p.E231K	SERPINA9_uc001yde.3_Missense_Mutation_p.E131K|SERPINA9_uc010avc.3_Missense_Mutation_p.E82K|SERPINA9_uc001ydg.3_Missense_Mutation_p.E195K|SERPINA9_uc001ydh.1_Missense_Mutation_p.E231K|SERPINA9_uc001ydi.1_Missense_Mutation_p.E195K	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	213					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AAGGGCTTCTCCCACTTGGCT	0.453000														6			28		0	0	0.002096	0	0
TNXB	7148	broad.mit.edu	37	6	32056824	32056824	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:32056824C>T	uc003nzl.2	-	6	2718	c.2516_splice	c.e6-1	p.M839_splice		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	791	Fibronectin type-III 1.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCATCGATCACTAGCCAGG	0.582000														173			53		0	0	0.003610	0	0
CCKAR	886	broad.mit.edu	37	4	26483644	26483644	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:26483644G>A	uc003gse.1	-	4	1056	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	301					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGTTGGCTGCGGAGCTGTTAC	0.612000														69			28		0	0	0.003755	0	0
RP1L1	94137	broad.mit.edu	37	8	10464636	10464636	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:10464636C>T	uc003wtc.3	-	3	7201	c.6972G>A	c.(6970-6972)agG>agA	p.R2324R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2324					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CATCAGGGCTCCTTGTGTCTC	0.562000														103			69		0	0	0.003610	0	0
CLVS2	134829	broad.mit.edu	37	6	123369776	123369776	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:123369776C>T	uc003pzi.1	+	3	1443	c.574C>T	c.(574-576)Cca>Tca	p.P192S		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	192	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						GGATAGTTTCCCAGCGCGATT	0.378000														13			100		0	0	0.003610	0	0
KCNH7	90134	broad.mit.edu	37	2	163292069	163292069	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:163292069G>A	uc002uch.2	-	7	1822	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L	KCNH7_uc002uci.3_Silent_p.L524L	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	531					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)	CAAGACGGAGGAGTCGGGCAG	0.433000														35			9		0	0	0.000673	0	0
TPTE	7179	broad.mit.edu	37	21	10921986	10921986	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr21:10921986C>T	uc002yip.1	-	17	1405	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G328E|TPTE_uc002yir.1_Missense_Mutation_p.G308E|TPTE_uc010gkv.1_Missense_Mutation_p.G208E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	346	Phosphatase tensin-type.				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)		AACCATAGTTCCTGTTCTATC	0.328000														67			27		0	0	0.001786	0	0
EXOC6B	23233	broad.mit.edu	37	2	72786584	72786584	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:72786584G>A	uc010fep.3	-	7	1051	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	EXOC6B_uc002sij.2_Silent_p.L305L	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	305					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AGACTCACCAGGACAGAATAT	0.358000														21			9		0	0	0.000673	0	0
ABCC3	8714	broad.mit.edu	37	17	48746818	48746818	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:48746818C>T	uc002isl.3	+	16	2250	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	724	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCAGCAGACTCTGGAGGCCTG	0.567000														75			27		0	0	0.001271	0	0
TNNC1	7134	broad.mit.edu	37	3	52485777	52485777	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:52485777G>A	uc003deb.3	-	3	326	c.300C>T	c.(298-300)ctC>ctT	p.L100L		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	100	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	ACATGCGGAAGAGGTCAGACA	0.557000														43			17		0	0	0.006122	0	0
X06774	0	broad.mit.edu	37	7	38370122	38370122	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:38370122C>T	uc010kxj.1	-	1	312	c.176G>A	c.(175-177)gGg>gAg	p.G59E	X06774_uc010kxk.1_Non-coding_Transcript					Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		TGGGGCCTTCCCCTCCTGGTG	0.483000														63			48		0	0	0.003610	0	0
TRIM55	84675	broad.mit.edu	37	8	67062683	67062683	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:67062683G>A	uc003xvv.3	+	6	1193	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	TRIM55_uc003xvu.3_Missense_Mutation_p.E323K|TRIM55_uc003xvw.3_Missense_Mutation_p.E323K|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	323	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.R322H(1)		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)			GATAATACGTGAAATTGACTT	0.423000														46			11		0	0	0.003163	0	0
KLHL7	55975	broad.mit.edu	37	7	23164757	23164757	+	Silent	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:23164757T>C	uc003svs.4	+	3	701	c.408T>C	c.(406-408)ttT>ttC	p.F136F	KLHL7_uc003svr.4_Silent_p.F114F|KLHL7_uc011jys.2_Silent_p.F60F|KLHL7_uc011jyt.2_Intron|KLHL7_uc003svt.3_Silent_p.F88F|KLHL7_uc003svp.3_Silent_p.F114F|KLHL7_uc003svq.3_Silent_p.F136F|KLHL7_uc011jyu.2_Silent_p.F114F	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	136						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGTTGATTTTTTGAAAGAAC	0.303000														38			28		0	0	0.002445	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222237	100222237	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:100222237C>T	uc003knk.3	-	2	641	c.313G>A	c.(313-315)Ggt>Agt	p.G105S	ST8SIA4_uc003knl.3_Missense_Mutation_p.G105S	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	105					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATGACATCACCAGGCTTAAAA	0.408000														64			28		0	0	0.001786	0	0
BSDC1	55108	broad.mit.edu	37	1	32834069	32834069	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:32834069G>A	uc001bvi.3	-	9	1337	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	BSDC1_uc001bvh.4_Silent_p.S413S|BSDC1_uc010ohg.2_Silent_p.S430S|BSDC1_uc010ohh.2_Silent_p.S357S|BSDC1_uc010ohi.2_Silent_p.S318S|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.S309S			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	413				E -> D (in Ref. 3; CAG33533).			protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATCCACTTTGGAAAGTGCCA	0.587000														54			14		0	0	0.004990	0	0
MAP1B	4131	broad.mit.edu	37	5	71482544	71482544	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:71482544C>T	uc003kbw.4	+	3	714	c.473C>T	c.(472-474)tCc>tTc	p.S158F	MAP1B_uc010iyw.1_Missense_Mutation_p.S158F|MAP1B_uc010iyx.1_Missense_Mutation_p.S32F|MAP1B_uc010iyy.1_Missense_Mutation_p.S32F	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	158						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCTCTTTCTCCTTCCAGAAC	0.493000														90			20		0	0	0.001882	0	0
HTR5A	3361	broad.mit.edu	37	7	154863156	154863156	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:154863156G>A	uc003wlu.1	+	0	611	c.547G>A	c.(547-549)Gag>Aag	p.E183K	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	183						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGGCTGGGGAGAGACGTACTC	0.637000														34			21		0	0	0.001216	0	0
TP63	8626	broad.mit.edu	37	3	189612096	189612096	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:189612096C>T	uc003fry.2	+	13	1937	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Silent_p.L522L|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Silent_p.L437L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	616	Transactivation inhibition.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTCTCATCTCCTGCGGACCC	0.572000										HNSCC(45;0.13)				36			52		0	0	0.003610	0	0
AURKC	6795	broad.mit.edu	37	19	57746709	57746710	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:57746709_57746710CC>TT	uc002qoe.3	+	6	1043_1044	c.854_855CC>TT	c.(853-855)gcc>gTT	p.A285V	AURKC_uc002qoc.3_Missense_Mutation_p.A266V|AURKC_uc002qod.3_Missense_Mutation_p.A251V|AURKC_uc010etv.3_Missense_Mutation_p.A282V	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	285	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CTGCCCCTGGCCCAGATCCTGA	0.594000														45			37		0	0	0.004672	0	0
FECH	2235	broad.mit.edu	37	18	55230187	55230187	+	Silent	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:55230187T>C	uc002lgq.4	-	5	741	c.624A>G	c.(622-624)agA>agG	p.R208R	FECH_uc002lgp.4_Silent_p.R214R|FECH_uc002lgr.4_Silent_p.R66R	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	208					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GATTATAGTATCTGTAAATGG	0.438000														30			16		0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13885301	13885301	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:13885301G>A	uc003jfd.2	-	18	2822	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	927	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)					ATTAATAGATGATGTCAAGGT	0.413000									Kartagener syndrome					42			16		0	0	0.004990	0	0
NRG1	3084	broad.mit.edu	37	8	32621757	32621757	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:32621757C>T	uc003xiv.2	+	11	2277	c.1760C>T	c.(1759-1761)cCt>cTt	p.P587L	NRG1_uc022ats.1_Missense_Mutation_p.P537L|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.P592L|NRG1_uc003xiw.2_Missense_Mutation_p.P584L|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.P329L|NRG1_uc010lvs.2_Missense_Mutation_p.P329L|NRG1_uc010lvp.2_Missense_Mutation_p.P541L|NRG1_uc010lvq.2_Missense_Mutation_p.P517L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.P430L|NRG1_uc003xja.2_Missense_Mutation_p.P398L	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	587					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAAGATACGCCTTTCCTGGGC	0.542000														11			5		0	0	0.000602	0	0
AP2A1	160	broad.mit.edu	37	19	50303356	50303356	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:50303356C>T	uc002ppn.3	+	10	1615	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.3_Silent_p.I468I|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	468					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCTACAGATCGTCACCAACC	0.592000														28			6		0	0	0.001168	0	0
MYO1H	283446	broad.mit.edu	37	12	109835574	109835574	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:109835574C>T	uc010sxn.1	+	3	479	c.479C>T	c.(478-480)tCc>tTc	p.S160F		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AATGACAACTCCAGCAGATTT	0.433000														17			6		0	0	0.001984	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494446	20494446	+	Missense_Mutation	SNP	G	A	A	rs144620533		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:20494446G>A	uc010bwe.3	+	13	1815	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	ACSM2A_uc002dhf.4_Missense_Mutation_p.E526K|ACSM2A_uc002dhg.4_Missense_Mutation_p.E526K|ACSM2A_uc010vay.2_Missense_Mutation_p.E447K|ACSM2A_uc002dhh.4_Missense_Mutation_p.E156K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	526					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTCACCAAGGAGCTGCAGCA	0.502000														85			37		0	0	0.001706	0	0
STAC	6769	broad.mit.edu	37	3	36545919	36545919	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:36545919C>T	uc003cgh.1	+	6	840	c.801C>T	c.(799-801)ttC>ttT	p.F267F	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Silent_p.F206F	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	267					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CTGATGATTTCAGAGATCCAG	0.408000														28			16		0	0	0.000958	0	0
OR1L1	26737	broad.mit.edu	37	9	125424312	125424312	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:125424312C>T	uc022bmz.1	+	0	318	c.318C>T	c.(316-318)gcC>gcT	p.A106A		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	156					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						TTTTCTTAGCCTTTGGAAACA	0.438000														73			48		0	0	0.003610	0	0
PROM2	150696	broad.mit.edu	37	2	95944534	95944534	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:95944534T>C	uc002suk.3	+	9	1247	c.1114_splice	c.e9+2	p.E372_splice	PROM2_uc002suh.2_Splice_Site_p.E372_splice|PROM2_uc002sui.3_Splice_Site_p.E372_splice|PROM2_uc002suj.3_Splice_Site_p.E26_splice|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	372						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						TGGTGCAAGGTTAGGCCACAC	0.632000														36			22		0	0	0.003954	0	0
C1orf173	127254	broad.mit.edu	37	1	75037406	75037406	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:75037406C>T	uc001dgg.3	-	13	4207	c.3988G>A	c.(3988-3990)Gag>Aag	p.E1330K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1330	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCATGCCCTCATTCTTTTGT	0.557000														36			29		0	0	0.001512	0	0
FNTA	2339	broad.mit.edu	37	8	42940398	42940398	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:42940398T>G	uc003xps.3	+	8	1161	c.1113T>G	c.(1111-1113)aaT>aaG	p.N371K	FNTA_uc003xpt.3_Missense_Mutation_p.N280K|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	371					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GCACAGAAAATGACTCACCAA	0.373000														36			5		0	0	0.001984	0	0
BMPER	168667	broad.mit.edu	37	7	34094863	34094863	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:34094863G>A	uc011kap.2	+	9	1249	c.875G>A	c.(874-876)cGa>cAa	p.R292Q		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	292					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCCTCCTACGAGTGCCCCCA	0.522000														77			77		0	0	0.003610	0	0
STX5	6811	broad.mit.edu	37	11	62592034	62592034	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:62592034C>T	uc001nvh.3	-	8	840	c.683G>A	c.(682-684)gGt>gAt	p.G228D	STX5_uc010rmj.2_Missense_Mutation_p.G228D|STX5_uc010rmi.2_Missense_Mutation_p.G132D	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	228					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus	SNAP receptor activity|protein N-terminus binding			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CACAGCACCACCGCCTGGGGG	0.552000														22			36		0	0	0.002836	0	0
TBC1D2	55357	broad.mit.edu	37	9	101006406	101006406	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:101006406C>T	uc011lvb.2	-	2	697	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	TBC1D2_uc004ayq.3_Missense_Mutation_p.E173K|TBC1D2_uc004ayr.3_5'UTR	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	173						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TCTGCCTCTTCTTGCCCTGGG	0.572000														2			14		0	0	0.004990	0	0
CNTN2	6900	broad.mit.edu	37	1	205041641	205041641	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:205041641G>A	uc001hbr.3	+	20	3031	c.2762G>A	c.(2761-2763)tGg>tAg	p.W921*	CNTN2_uc001hbq.1_Nonsense_Mutation_p.W812*|CNTN2_uc001hbs.3_Nonsense_Mutation_p.W709*	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	921	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACATCTCCTGGACTTTCTCA	0.542000														80			14		0	0	0.004007	0	0
RAG2	5897	broad.mit.edu	37	11	36615058	36615058	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:36615058C>T	uc021qge.1	-	0	661	c.661G>A	c.(661-663)Gga>Aga	p.G221R	RAG2_uc021qgc.1_Missense_Mutation_p.G221R|RAG2_uc021qgd.1_Missense_Mutation_p.G221R|RAG2_uc001mwv.4_Missense_Mutation_p.G221R|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	221					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				AGTGAATGTCCTCCTAAAATA	0.443000									Familial Hemophagocytic Lymphohistiocytosis					52			12		0	0	0.001368	0	0
SYDE2	84144	broad.mit.edu	37	1	85624434	85624434	+	Nonstop_Mutation	SNP	C	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:85624434C>G	uc009wcm.3	-	6	3633	c.3584G>C	c.(3583-3585)tGa>tCa	p.*1195S		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	0					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CCCTCAATCTCAAAAACTCAT	0.299000														5			7		0	0	0.003080	0	0
FCGBP	8857	broad.mit.edu	37	19	40363278	40363278	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:40363278C>T	uc002omp.4	-	31	14800	c.14792G>A	c.(14791-14793)gGc>gAc	p.G4931D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4931	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTCGCCGTCCACGGT	0.657000														26			6		0	0	0.001984	0	0
CUL9	23113	broad.mit.edu	37	6	43181575	43181575	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:43181575C>T	uc003ouk.3	+	28	5688	c.5613C>T	c.(5611-5613)ctC>ctT	p.L1871L	CUL9_uc003oul.3_Silent_p.L1843L|CUL9_uc010jyk.3_Silent_p.L1023L|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1871					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGAGGAATCTCTTGAGCTGTC	0.552000														44			44		0	0	0.003214	0	0
WNT9A	7483	broad.mit.edu	37	1	228111920	228111920	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:228111920G>A	uc001hri.2	-	2	622	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	178					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ATTCCTTGACGAACTTGCTGC	0.612000														179			39		0	0	0.002852	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806364	97806364	+	Silent	SNP	C	T	T	rs147718311		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:97806364C>T	uc011bgs.2	+	0	348	c.348C>T	c.(346-348)ctC>ctT	p.L116L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						AATGCTTCCTCCTGGTGATGA	0.433000														124			39		0	0	0.005524	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:52034594C>T	uc002pwy.3	-	1	455	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_uc002pwz.3_Missense_Mutation_p.E83K|SIGLEC6_uc010ydb.2_Missense_Mutation_p.E47K|SIGLEC6_uc010ydc.2_Missense_Mutation_p.E83K|SIGLEC6_uc002pxa.3_Missense_Mutation_p.E83K|SIGLEC6_uc010eoz.2_Missense_Mutation_p.E83K|SIGLEC6_uc010epa.2_Missense_Mutation_p.E72K|SIGLEC6_uc010epb.2_Missense_Mutation_p.E36K	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	83	Ig-like V-type.				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)		TGCACTTCTTCGTCTGGGTCG	0.582000														44			43		0	0	0.001706	0	0
CNOT3	4849	broad.mit.edu	37	19	54647829	54647829	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:54647829C>T	uc002qdj.2	+	5	670	c.346C>T	c.(346-348)Cct>Tct	p.P116S	CNOT3_uc010yel.2_Missense_Mutation_p.P116S|CNOT3_uc002qdi.3_Missense_Mutation_p.P29S|CNOT3_uc002qdk.2_Missense_Mutation_p.P116S|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	116					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.D115Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTAGATCCTGCCCAGAA	0.552000														42			15		0	0	0.002450	0	0
CCDC101	112869	broad.mit.edu	37	16	28600457	28600457	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:28600457C>T	uc002dqf.3	+	4	446	c.261C>T	c.(259-261)atC>atT	p.I87I	NPIPL1_uc010vct.2_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	Homo sapiens coiled-coil domain containing 101 (CCDC101), mRNA.	87					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						TCGCGGAAATCAAGTCTCTGT	0.542000														103			49		0	0	0.003610	0	0
TEAD4	7004	broad.mit.edu	37	12	3103986	3103987	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:3103986_3103987CC>TT	uc010sej.2	+	2	346_347	c.54_55CC>TT	c.(52-57)tcccct>tcTTct	p.P19S	TEAD4_uc010sek.2_Missense_Mutation_p.P19S|TEAD4_uc001qln.3_Intron	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	19					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTCCCACCTCCCCTGAGGGGAG	0.639000														36			41		0	0	0.004672	0	0
NOL4	8715	broad.mit.edu	37	18	31709935	31709935	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:31709935A>G	uc010dmi.3	-	1	612	c.314T>C	c.(313-315)gTt>gCt	p.V105A	NOL4_uc002kxr.4_5'UTR|NOL4_uc010xbt.2_Missense_Mutation_p.V31A|NOL4_uc010dmh.3_Missense_Mutation_p.V31A|NOL4_uc010xbu.2_Missense_Mutation_p.V105A|NOL4_uc002kxt.4_Missense_Mutation_p.V105A	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	105						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						GAAATCTTCAACCACAGCTAC	0.388000														41			30		0	0	0.001061	0	0
MAN1A1	4121	broad.mit.edu	37	6	119515055	119515055	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:119515055G>A	uc003pym.1	-	8	1655	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	405					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTGATACATGATCTGGAAAG	0.388000														8			26		0	0	0.003954	0	0
GPR171	29909	broad.mit.edu	37	3	150917160	150917160	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:150917160G>A	uc003eyq.4	-	2	254	c.14C>T	c.(13-15)tCg>tTg	p.S5L	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.S5L	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	5						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.S5L(2)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGAAGAACGAACTGTTTGT	0.348000														26			21		0	0	0.002780	0	0
DGKD	8527	broad.mit.edu	37	2	234368862	234368863	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:234368862_234368863CC>TT	uc002vui.1	+	23	2864_2865	c.2852_2853CC>TT	c.(2851-2853)tcc>tTT	p.S951F	DGKD_uc002vuj.1_Missense_Mutation_p.S907F|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	951					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACCCTGAAGTCCTGGGAAGACA	0.579000														55			13		0	0	0.004672	0	0
DENR	8562	broad.mit.edu	37	12	123238315	123238315	+	Silent	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:123238315T>C	uc001uda.3	+	1	203	c.67T>C	c.(67-69)Tta>Cta	p.L23L		NM_003677	NP_003668	O43583	DENR_HUMAN	Homo sapiens density-regulated protein (DENR), mRNA.	23							protein binding|translation initiation factor activity			kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		CAGTGCCAAGTTAGATGCCGA	0.438000														31			12		0	0	0.000978	0	0
FAM19A5	25817	broad.mit.edu	37	22	49103654	49103654	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:49103654A>C	uc003bim.4	+	2	505	c.388A>C	c.(388-390)Acg>Ccg	p.T130P	FAM19A5_uc003bio.4_Missense_Mutation_p.T123P	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.	130						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		AAAGACCACCACGGTATGTGG	0.657000														97			36		0	0	0.001706	0	0
LOC200726	200726	broad.mit.edu	37	2	207509016	207509017	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:207509016_207509017CC>TT	uc010fuh.1	+	1	231_232	c.56_57CC>TT	c.(55-57)tcc>tTT	p.S19F		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		TTCACCTGCTCCCTGCTCATTG	0.530000														13			11		0	0	0.004672	0	0
TMEM132B	114795	broad.mit.edu	37	12	125811186	125811186	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:125811186C>T	uc001uhe.1	+	0	25	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	6						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)		GGTGCAGCATCCAGAATGGAC	0.577000														16			5		0	0	0.001168	0	0
ADAM18	8749	broad.mit.edu	37	8	39495990	39495990	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:39495990G>A	uc003xni.3	+	9	889	c.834G>A	c.(832-834)agG>agA	p.R278R	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.R254R	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	278	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTAGTTACAGGAAACATCCTA	0.269000														25			19		0	0	0.001216	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794391	15794391	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:15794391C>T	uc002nbl.3	+	6	855	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CATGGACTTTCTGTATTACCT	0.582000														53			45		0	0	0.003610	0	0
FAM75D1	389763	broad.mit.edu	37	9	84605857	84605857	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:84605857C>T	uc004amn.3	+	3	519	c.472C>T	c.(472-474)Cct>Tct	p.P158S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	158						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CTCTGTGTCCCCTTTGGCTTC	0.562000														3			24		0	0	0.004656	0	0
ALDH2	217	broad.mit.edu	37	12	112221090	112221090	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:112221090G>A	uc001tst.3	+	2	444	c.348G>A	c.(346-348)cgG>cgA	p.R116R	ALDH2_uc010syi.2_Intron	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	116				R -> Q (in Ref. 5; AAT41621).	carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.D115N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AGCGGGACCGGACCTACCTGG	0.652000			T	HMGA2	leiomyoma									58			18		0	0	0.000958	0	0
CMYA5	202333	broad.mit.edu	37	5	79026253	79026253	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:79026253G>A	uc003kgc.3	+	1	1737	c.1665G>A	c.(1663-1665)gtG>gtA	p.V555V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	555	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCCTGAAGTGGAGCACAAAG	0.418000														145			82		0	0	0.003610	0	0
KCNB2	9312	broad.mit.edu	37	8	73480294	73480294	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:73480294C>T	uc003xzb.3	+	1	913	c.325C>T	c.(325-327)Cat>Tat	p.H109Y		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	109					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)			CGGGAAACTCCATATGATGGA	0.453000														68			27		0	0	0.001061	0	0
TLR7	51284	broad.mit.edu	37	X	12905377	12905377	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:12905377G>A	uc004cvc.3	+	2	1889	c.1750G>A	c.(1750-1752)Gga>Aga	p.G584R		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	584					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCAATCAGAAGGAATTACTCA	0.398000														10			59		0	0	0.003610	0	0
SPZ1	84654	broad.mit.edu	37	5	79616895	79616895	+	RNA	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:79616895C>T	uc011ctk.1	-	0		c.764G>A			SPZ1_uc003kgn.3_Silent_p.V287V			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ATAATGGAGTCGGTTTCCAAA	0.413000														45			32		0	0	0.001512	0	0
SYDE2	84144	broad.mit.edu	37	1	85634895	85634895	+	Silent	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:85634895A>G	uc009wcm.3	-	4	2734	c.2685T>C	c.(2683-2685)gaT>gaC	p.D895D		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	895	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTCTTAAATAATCCTTAAGAA	0.333000														86			39		0	0	0.001485	0	0
OR2C1	4993	broad.mit.edu	37	16	3406061	3406061	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:3406061G>A	uc002cuw.1	+	0	173	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GACCCTACTTGGGAACTCAAC	0.517000														53			70		0	0	0.003610	0	0
CEP164	22897	broad.mit.edu	37	11	117222542	117222542	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:117222542C>T	uc001prc.3	+	4	378	c.231C>T	c.(229-231)ttC>ttT	p.F77F	CEP164_uc001prb.3_Silent_p.F77F|CEP164_uc001prd.2_Silent_p.F77F|CEP164_uc010rxj.1_Silent_p.F31F|CEP164_uc010rxk.1_Silent_p.F77F	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	77	Interaction with ATRIP.|WW.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ATTTCAACTTCGCCAACGGGC	0.478000														37			70		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141799512	141799512	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:141799512G>A	uc003vwy.3	+	43	5215	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1721	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)	GCCCTGGCAAGAGCCTGCACT	0.473000														24			21		0	0	0.001882	0	0
GARS	2617	broad.mit.edu	37	7	30671904	30671904	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:30671904G>A	uc003tbm.3	+	15	2302	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	649					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAAGTAGACGATTCCTCTGG	0.448000														46			16		0	0	0.006122	0	0
DERA	51071	broad.mit.edu	37	12	16109941	16109941	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:16109941C>T	uc001rde.3	+	1	235	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	DERA_uc010shx.1_5'UTR	NM_015954	NP_057038	Q9Y315	DEOC_HUMAN	Homo sapiens deoxyribose-phosphate aldolase (putative) (DERA), mRNA.	35					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				AATCCAGGCTCGCAGAACCGT	0.458000														19			31		0	0	0.003271	0	0
NPHS2	7827	broad.mit.edu	37	1	179533850	179533850	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:179533850G>A	uc001gmq.4	-	1	438	c.353C>T	c.(352-354)cCt>cTt	p.P118L	NPHS2_uc009wxi.3_Missense_Mutation_p.P118L	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	118					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GATGGAAAAAGGGAAGGTCAT	0.463000														63			9		0	0	0.000978	0	0
TDRKH	11022	broad.mit.edu	37	1	151754010	151754010	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:151754010G>A	uc009wnb.1	-	2	360	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.P60S|TDRKH_uc001ezc.4_Missense_Mutation_p.P60S|TDRKH_uc001eza.4_Missense_Mutation_p.P60S|TDRKH_uc001ezd.4_Missense_Mutation_p.P60S|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	60	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCCTGGGGAACCCGCATC	0.463000														148			39		0	0	0.003610	0	0
C20orf26	26074	broad.mit.edu	37	20	20341038	20341038	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:20341038G>A	uc002wru.3	+	26	3812	c.3698G>A	c.(3697-3699)tGg>tAg	p.W1233*	C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1233										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATGTACGCGTGGCCAGGCATC	0.463000											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			88		0	0	0.003610	0	0
SEPT3	55964	broad.mit.edu	37	22	42383746	42383746	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:42383746C>T	uc003bbr.4	+	4	672	c.534C>T	c.(532-534)atC>atT	p.I178I	SEPT3_uc003bbs.4_Silent_p.I178I|SEPT3_uc011apj.2_Silent_p.I114I|SEPT3_uc010gys.3_5'UTR	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	Homo sapiens septin 3 (SEPT3), transcript variant A, mRNA.	178					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						TTTACTTCATCTCTCCCACAG	0.502000														1			50		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21060892	21060892	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:21060892C>T	uc010vbe.2	-	30	4459	c.4459G>A	c.(4459-4461)Gag>Aag	p.E1487K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1487	AAA 1 (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)		AGAGTTACCTCGATCCTGTTG	0.502000														36			41		0	0	0.001485	0	0
CDH8	1006	broad.mit.edu	37	16	61891023	61891023	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:61891023C>T	uc002eog.2	-	4	1622	c.667_splice	c.e4+1	p.A223_splice	CDH8_uc002eoh.3_Splice_Site	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	223	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		GGCCACAAACCTGTTTCAGGC	0.388000														30			46		0	0	0.003610	0	0
BCAS1	8537	broad.mit.edu	37	20	52591936	52591936	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:52591936C>T	uc002xws.2	-	7	1512	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.E340K|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Intron|BCAS1_uc010gil.1_Missense_Mutation_p.E392K	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	392						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACATTCTCCTCCGCACCTGTG	0.413000														27			25		0	0	0.001271	0	0
ASPM	259266	broad.mit.edu	37	1	197074116	197074116	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:197074116G>A	uc001gtu.3	-	17	4522	c.4265C>T	c.(4264-4266)tCa>tTa	p.S1422L	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.	1422	IQ 2.				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						AAGAGTTGATGATTTTAGCAT	0.318000														96			19		0	0	0.006122	0	0
THBS1	7057	broad.mit.edu	37	15	39876278	39876278	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:39876278G>A	uc001zkh.3	+	4	972	c.793G>A	c.(793-795)Gac>Aac	p.D265N		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	265					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAAGACAAAGGACTTGCAAGC	0.557000														15			24		0	0	0.002780	0	0
MYOM1	8736	broad.mit.edu	37	18	3126739	3126739	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:3126739C>T	uc002klp.3	-	18	3285	c.2951G>A	c.(2950-2952)aGa>aAa	p.R984K	MYOM1_uc002klq.3_Missense_Mutation_p.R888K	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	984	Fibronectin type-III 4.					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						ATTGGCTTCTCTCCATTTTCC	0.483000														34			11		0	0	0.001368	0	0
DLGAP4	22839	broad.mit.edu	37	20	35075157	35075157	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:35075157G>A	uc002xff.3	+	6	1900	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	DLGAP4_uc010zvp.2_Missense_Mutation_p.E489K	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	489					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGCCTGCAGTGAAGCGGAGTC	0.637000														25			6		0	0	0.001984	0	0
FAM113B	91523	broad.mit.edu	37	12	47629084	47629084	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:47629084C>T	uc001rpq.3	+	1	763	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	FAM113B_uc001rpn.3_Missense_Mutation_p.R80C|FAM113B_uc021qxi.1_Missense_Mutation_p.R80C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	80							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					CCGTGAGGTCCGCGAGTTCCG	0.582000														70			22		0	0	0.001882	0	0
ZFP2	80108	broad.mit.edu	37	5	178358720	178358720	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:178358720G>A	uc003mjn.1	+	4	915	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	ZFP2_uc010jky.2_Missense_Mutation_p.G136R|ZFP2_uc010jkx.1_Missense_Mutation_p.G136R|ZFP2_uc021yjb.1_Missense_Mutation_p.G136R	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TAATGTATGTGGGAAACACTT	0.403000														33			12		0	0	0.001368	0	0
ODZ1	10178	broad.mit.edu	37	X	123519813	123519813	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:123519813G>A	uc010nqy.3	-	28	5854	c.5790C>T	c.(5788-5790)agC>agT	p.S1930S	ODZ1_uc011muj.2_Silent_p.S1929S|ODZ1_uc004euj.3_Silent_p.S1923S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1923					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGGTTTGTAAGCTGTGACGCA	0.502000														0			35		0	0	0.003755	0	0
USF1	7391	broad.mit.edu	37	1	161012645	161012645	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:161012645C>T	uc001fxi.3	-	2	231	c.36G>A	c.(34-36)gaG>gaA	p.E12E	USF1_uc001fxj.3_5'UTR	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	12					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCACTGTCCCCTCTTCCGTTT	0.488000														164			30		0	0	0.004878	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279362	105279362	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:105279362G>A	uc010npd.3	-	1	872	c.637C>T	c.(637-639)Cct>Tct	p.P213S	SERPINA7_uc004eme.2_Missense_Mutation_p.P213S|SERPINA7_uc010npe.2_Missense_Mutation_p.P213S	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	213					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGATCAAAAGGATTTGCCCAC	0.388000														5			36		0	0	0.001706	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640563	99640563	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:99640563G>A	uc001tge.2	-	12	2253	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S	ANKS1B_uc001tgf.2_Silent_p.S192S|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Silent_p.S578S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	612						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGGCTGGAGAGGATCCATGGA	0.463000														88			99		0	0	0.003610	0	0
MECOM	2122	broad.mit.edu	37	3	168833255	168833255	+	Missense_Mutation	SNP	C	T	T	rs139044661		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:168833255C>T	uc011bpj.1	-	7	2808	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	MECOM_uc010hwk.1_Missense_Mutation_p.G637E|MECOM_uc003ffj.3_Missense_Mutation_p.G679E|MECOM_uc003ffi.3_Missense_Mutation_p.G614E|MECOM_uc011bpi.1_Missense_Mutation_p.G615E|MECOM_uc003ffn.3_Missense_Mutation_p.G614E|MECOM_uc003ffk.2_Missense_Mutation_p.G614E|MECOM_uc003ffl.2_Missense_Mutation_p.G774E|MECOM_uc011bpk.1_Missense_Mutation_p.G614E|MECOM_uc010hwn.2_Missense_Mutation_p.G802E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	23							sequence-specific DNA binding transcription factor activity	p.G614E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GACGTTGCTTCCTTTTTTTCC	0.488000														15			31		0	0	0.001512	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71170824	71170824	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:71170824T>C	uc002shj.3	+	1	242	c.155T>C	c.(154-156)gTg>gCg	p.V52A	ATP6V1B1_uc002shi.1_Missense_Mutation_p.V52A|ATP6V1B1_uc010fdx.3_5'UTR	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	52					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GGGCCCCTGGTGGTGCTGGAC	0.627000														18			25		0	0	0.004656	0	0
ZNF107	51427	broad.mit.edu	37	7	64168503	64168503	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:64168503C>T	uc003ttd.3	+	6	2607	c.1821C>T	c.(1819-1821)ccC>ccT	p.P607P	ZNF107_uc003tte.3_Silent_p.P607P	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAGAGAAACCCCACAAATGTG	0.343000														64			22		0	0	0.003330	0	0
AK309896	0	broad.mit.edu	37	9	66513863	66513863	+	RNA	SNP	C	T	T	rs139869663	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:66513863C>T	uc010mnh.1	-	5		c.885G>A								Homo sapiens cDNA FLJ20444 fis, clone KAT05128.																		ATGACCTGCTCCTGCGGAAGG	0.498000														83			14		0	0	0.002780	0	0
DUSP15	128853	broad.mit.edu	37	20	30436336	30436336	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:30436336G>A	uc002wwu.1	-	9	836	c.759C>T	c.(757-759)tcC>tcT	p.S253S	FOXS1_uc002wwt.1_5'Flank			Q9H1R2	DUS15_HUMAN	Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA.	253						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTAGAGTGCAGGACGAGCTCC	0.632000														15			7		0	0	0.003080	0	0
PCDH19	57526	broad.mit.edu	37	X	99662809	99662809	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:99662809T>G	uc010nmz.3	-	0	2463	c.787A>C	c.(787-789)Agc>Cgc	p.S263R	PCDH19_uc004efw.4_Missense_Mutation_p.S263R|PCDH19_uc004efx.4_Missense_Mutation_p.S263R	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	263	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCTGGATCGCTGGCGTTGAGG	0.607000														9			46		0	0	0.003610	0	0
CCDC88B	283234	broad.mit.edu	37	11	64108452	64108452	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:64108452C>T	uc001nzy.3	+	2	329	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	CCDC88B_uc009ypo.2_Silent_p.L91L|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	94					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGTGTGGAACCTGAACCACCT	0.662000														72			24		0	0	0.001512	0	0
ABCA8	10351	broad.mit.edu	37	17	66871498	66871498	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:66871498C>T	uc002jhq.3	-	36	4874	c.4534G>A	c.(4534-4536)Gat>Aat	p.D1512N	ABCA8_uc002jhp.3_Missense_Mutation_p.D1472N|ABCA8_uc010wqq.2_Missense_Mutation_p.D1507N	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1472						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGCAGGTAATCTTTGCCAAAT	0.468000														45			16		0	0	0.004990	0	0
NRG2	9542	broad.mit.edu	37	5	139231201	139231202	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:139231201_139231202GG>AA	uc003lev.2	-	9	2013_2014	c.1783_1784CC>TT	c.(1783-1785)cca>TTa	p.P595L	NRG2_uc003lew.2_Missense_Mutation_p.P589L|NRG2_uc003lex.2_Missense_Mutation_p.P587L|NRG2_uc003ley.2_Missense_Mutation_p.P581L|NRG2_uc021yed.1_Missense_Mutation_p.P521L	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	587					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTGTGTGGGGAGTCGCGA	0.668000														20			13		0	0	0.004672	0	0
ALG8	79053	broad.mit.edu	37	11	77824955	77824955	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:77824955A>G	uc001oza.1	-	6	819	c.754T>C	c.(754-756)Tca>Cca	p.S252P	ALG8_uc001oyz.1_Missense_Mutation_p.S252P|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	252					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GGACCCAATGAAAGAGCAGAA	0.358000														12			5		0	0	0.000602	0	0
PXDN	7837	broad.mit.edu	37	2	1677425	1677425	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:1677425G>A	uc002qxa.3	-	8	1072	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	PXDN_uc002qxb.1_Silent_p.F336F|PXDN_uc002qxc.1_Silent_p.F153F	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	336					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGAGACCCGAAGTACCTGA	0.537000														109			38		0	0	0.001485	0	0
LOC407835	407835	broad.mit.edu	37	7	128767003	128767003	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:128767003C>T	uc003voo.3	+	0	679	c.432C>T	c.(430-432)atC>atT	p.I144I						Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA.																		AGATCAGCATCTGCATGGAGC	0.592000														8			3		0	0	0.004672	0	0
PTCHD2	57540	broad.mit.edu	37	1	11584081	11584081	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:11584081C>T	uc001ash.4	+	10	2583	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P	PTCHD2_uc001asi.1_Silent_p.P815P	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	815					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGGGGTCCCCTGGGCTAGCC	0.657000														47			12		0	0	0.002450	0	0
TMEM132A	54972	broad.mit.edu	37	11	60698102	60698102	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:60698102C>T	uc001nqi.3	+	4	1180	c.987C>T	c.(985-987)caC>caT	p.H329H	TMEM132A_uc001nqj.3_Silent_p.H329H|TMEM132A_uc001nqk.3_Silent_p.H342H|TMEM132A_uc001nql.1_Silent_p.H342H	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	329						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TCACCTGCCACCGTGCTGGGC	0.627000														42			15		0	0	0.003163	0	0
SGK1	6446	broad.mit.edu	37	6	134493877	134493877	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:134493877C>T	uc003qen.4	-	6	674	c.585G>A	c.(583-585)ctG>ctA	p.L195L	SGK1_uc003qeo.4_Silent_p.L290L|SGK1_uc011ect.2_Silent_p.L185L|SGK1_uc011ecu.2_Silent_p.L151L|SGK1_uc011ecv.2_Silent_p.L209L|SGK1_uc011ecw.2_Silent_p.L223L	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	195	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CCCGTGGTTCCAGGAAGCAGC	0.468000														22			12		0	0	0.002450	0	0
ANKRD44	91526	broad.mit.edu	37	2	198001381	198001381	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:198001381G>A	uc021vuj.1	-	3	389	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	ANKRD44_uc021vuk.1_Missense_Mutation_p.R41C|ANKRD44_uc002uub.3_Missense_Mutation_p.R66C|ANKRD44_uc010zgw.2_5'UTR|ANKRD44_uc002uuc.3_Missense_Mutation_p.R66C|ANKRD44_uc002uud.2_Missense_Mutation_p.R66C	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	66							protein binding	p.R41C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCATTTACACGAGCTCCTGGA	0.468000														21			39		0	0	0.001485	0	0
TNPO2	30000	broad.mit.edu	37	19	12830100	12830100	+	Silent	SNP	G	A	A	rs138981862	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:12830100G>A	uc002mup.3	-	1	888	c.426C>T	c.(424-426)ttC>ttT	p.F142F	TNPO2_uc002muq.3_Silent_p.F50F|TNPO2_uc002muo.3_Silent_p.F50F|TNPO2_uc002mur.3_Silent_p.F50F	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	50					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTCAGGACGAAAATCAGGT	0.552000														22			17		0	0	0.001523	0	0
SYNJ2	8871	broad.mit.edu	37	6	158507974	158507974	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:158507974C>T	uc003qqx.2	+	22	3402	c.3296C>T	c.(3295-3297)cCc>cTc	p.P1099L	SYNJ2_uc003qqw.2_Missense_Mutation_p.P1099L|SYNJ2_uc003qqy.2_Missense_Mutation_p.P862L|SYNJ2_uc003qqz.2_Missense_Mutation_p.P716L|SYNJ2_uc003qra.2_Missense_Mutation_p.P442L	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1099	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGTCGGTCCCCAACCGGCCT	0.652000														14			13		0	0	0.001855	0	0
CHD5	26038	broad.mit.edu	37	1	6181214	6181214	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:6181214C>T	uc001amb.2	-	32	4974	c.4863G>A	c.(4861-4863)cgG>cgA	p.R1621R	CHD5_uc001alz.2_Silent_p.R478R|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1621					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTCCTCTGGCCGCTCCTCTC	0.657000														21			12		0	0	0.001855	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111696	64111696	+	Silent	SNP	C	T	T	rs79231173		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:64111696C>T	uc001nzy.3	+	13	1732	c.1683C>T	c.(1681-1683)ccC>ccT	p.P561P	CCDC88B_uc009ypo.2_Silent_p.P558P|CCDC88B_uc001nzz.1_Silent_p.P210P	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	561					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGAGAGTCCCCTTCAGGCAG	0.632000														59			18		0	0	0.006122	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073137	17073137	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:17073137C>T	uc002zlp.1	-	0	564	c.304G>A	c.(304-306)Ggg>Agg	p.G102R		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	102					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)				GTGCCGTCCCCACTATTCTCT	0.662000														34			11		0	0	0.000978	0	0
LRG1	116844	broad.mit.edu	37	19	4538269	4538269	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:4538269G>A	uc002mau.3	-	1	738	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	243						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCGTTCAGGAAGAGGTAG	0.592000														252			148		0	0	0.003610	0	0
PLB1	151056	broad.mit.edu	37	2	28816583	28816584	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:28816583_28816584CC>TT	uc002rmb.2	+	32	2327_2328	c.2283_2284CC>TT	c.(2281-2286)ctcccc>ctTTcc	p.P762S	PLB1_uc010ezj.2_Missense_Mutation_p.P751S|PLB1_uc002rmc.3_Missense_Mutation_p.P450S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	762	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGACGACCTCCCCGATGTCAC	0.490000														15			11		0	0	0.004672	0	0
ZNF701	55762	broad.mit.edu	37	19	53086285	53086285	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:53086285C>T	uc010ydn.2	+	4	1234	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	ZNF701_uc002pzs.2_Missense_Mutation_p.P325S|ZNF701_uc021uyw.1_Missense_Mutation_p.P391S	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGGAGAGAAACCTTACAAATG	0.373000														56			24		0	0	0.004656	0	0
CD40LG	959	broad.mit.edu	37	X	135732472	135732472	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:135732472G>A	uc004faa.3	+	1	276	c.204G>A	c.(202-204)acG>acA	p.T68T	CD40LG_uc010nsd.3_Silent_p.T68T|CD40LG_uc010nse.1_Non-coding_Transcript	NM_000074	NP_000065	P29965	CD40L_HUMAN	Homo sapiens CD40 ligand (CD40LG), mRNA.	68					B cell proliferation|anti-apoptosis|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TCATGAAAACGATACAGAGAT	0.353000									Immune Deficiency with Hyper-IgM					5			45		0	0	0.002222	0	0
CHRNA10	57053	broad.mit.edu	37	11	3690520	3690520	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:3690520A>G	uc001lyf.3	-	2	340	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	90					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CATCGTAGGTAGGCATCTGTC	0.552000														34			40		0	0	0.003214	0	0
KIDINS220	57498	broad.mit.edu	37	2	8930116	8930116	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:8930116G>A	uc002qzc.2	-	13	1697	c.1515C>T	c.(1513-1515)acC>acT	p.T505T	KIDINS220_uc010yiv.1_Silent_p.T271T|KIDINS220_uc002qzd.2_Silent_p.T463T|KIDINS220_uc010yiw.1_Silent_p.T506T	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	505	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAAGTAGCAGGGTAAGAAACA	0.423000														74			30		0	0	0.001786	0	0
PNISR	25957	broad.mit.edu	37	6	99857138	99857138	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:99857138G>A	uc003ppo.4	-	5	812	c.584C>T	c.(583-585)cCc>cTc	p.P195L	PNISR_uc003ppp.4_Missense_Mutation_p.P195L|PNISR_uc011eag.2_Missense_Mutation_p.P195L|PNISR_uc003ppr.2_Missense_Mutation_p.P195L	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	195	Pro-rich.					nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCGATTCTGGGGAGGTGCTGG	0.507000														5			32		0	0	0.002096	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998608	112998608	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:112998608C>T	uc001ebx.3	+	5	722	c.494C>T	c.(493-495)tCt>tTt	p.S165F	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	165						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAAGCTCTCTAGTCAGCTG	0.443000														39			13		0	0	0.001368	0	0
VPS54	51542	broad.mit.edu	37	2	64174584	64174584	+	Missense_Mutation	SNP	C	T	T	rs150460424		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:64174584C>T	uc002scq.3	-	8	1341	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	VPS54_uc002scp.3_Missense_Mutation_p.R381K|VPS54_uc010fct.3_Intron	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	393					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ATTAAGCTTTCTTTGTTTTAA	0.234000														19			11		0	0	0.002450	0	0
NLRP8	126205	broad.mit.edu	37	19	56466832	56466832	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:56466832G>A	uc002qmh.3	+	2	1479	c.1408G>A	c.(1408-1410)Ggt>Agt	p.G470S	NLRP8_uc010etg.3_Missense_Mutation_p.G470S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	470	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATGGGTGTTAGGTAAAGAAGA	0.507000														112			25		0	0	0.004656	0	0
GABRE	2564	broad.mit.edu	37	X	151123253	151123253	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:151123253C>T	uc004ffi.3	-	8	1495	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	481					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTAGTTATCCAGGCGGTAG	0.507000														2			23		0	0	0.002780	0	0
PDZD2	23037	broad.mit.edu	37	5	31995685	31995685	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:31995685G>A	uc003jhl.3	+	3	1370	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	PDZD2_uc003jhm.3_Missense_Mutation_p.E328K|PDZD2_uc011cnx.1_Missense_Mutation_p.E154K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	328					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTCCAAGGAGGAAGTTGGCCG	0.517000														121			32		0	0	0.002852	0	0
MARCH2	51257	broad.mit.edu	37	19	8495718	8495718	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:8495718C>T	uc002mjv.3	+	4	990	c.549C>T	c.(547-549)atC>atT	p.I183I	MARCH2_uc002mjw.3_Silent_p.I183I|MARCH2_uc002mjx.3_Intron	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	183					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCCTCACCATCGCCCTCTTCA	0.662000														19			19		0	0	0.001216	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564916	47564916	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:47564916G>A	uc001cqu.1	+	7	1030	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	343						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATGCCGAGATGAAATCAGGGA	0.438000														14			18		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179547573	179547573	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179547573G>A	uc021vsy.1	-	131	29438	c.29213C>T	c.(29212-29214)tCa>tTa	p.S9738L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S6399L|TTN_uc010fre.1_Missense_Mutation_p.S585L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10665	Ig-like 78.						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)			CCGTTGTACTGAAACAGCTTC	0.333000														23			30		0	0	0.001061	0	0
EPHA10	284656	broad.mit.edu	37	1	38197104	38197104	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:38197104C>T	uc009vvi.3	-	6	1728	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	548	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCTGTACTTCAATGCTGGGG	0.597000														45			20		0	0	0.001882	0	0
TTC39C	125488	broad.mit.edu	37	18	21649157	21649157	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:21649157C>T	uc002kuw.3	+	3	834	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	TTC39C_uc002kuu.3_Missense_Mutation_p.R67W	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	128							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TATGGTTGATCGGCTTCAGAG	0.428000														99			25		0	0	0.002096	0	0
OR5I1	10798	broad.mit.edu	37	11	55703609	55703609	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:55703609C>T	uc010ris.2	-	0	268	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATTTGTTCTCCGAGAGGAAA	0.408000														13			8		0	0	0.003080	0	0
MN1	4330	broad.mit.edu	37	22	28194969	28194969	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr22:28194969G>A	uc003adj.3	-	0	2518	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	521							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgttgcAGGGACTGGTGGT	0.672000			T	ETV6	"""AML, meningioma"""									13			4		0	0	0.000248	0	0
CCDC144A	9720	broad.mit.edu	37	17	16703437	16703437	+	RNA	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:16703437G>A	uc010cpj.1	+	18		c.4548G>A			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		CCAGCAAAGAGAATGGGGCTG	0.572000														36			5		0	0	0.001984	0	0
OR4C12	283093	broad.mit.edu	37	11	50003790	50003790	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:50003790G>A	uc010ria.2	-	0	282	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S83S(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTCTTGAAAGGAATCCACAAT	0.438000														50			68		0	0	0.003610	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800709	70800709	+	Missense_Mutation	SNP	C	T	T	rs146773920	by1000genomes	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:70800709C>T	uc003tvy.3	+	1	412	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	138						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCGGATTATCGTCCCACCAA	0.463000														72			19		0	0	0.002299	0	0
AKAP6	9472	broad.mit.edu	37	14	33291974	33291974	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:33291974G>A	uc001wrq.3	+	12	5125	c.4955G>A	c.(4954-4956)cGa>cAa	p.R1652Q		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1652	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGATAAAACGAAGTGTTTCT	0.423000														6			29		0	0	0.001512	0	0
C4orf22	255119	broad.mit.edu	37	4	81504291	81504291	+	Missense_Mutation	SNP	C	T	T	rs142731425	byFrequency	TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:81504291C>T	uc010ijp.3	+	2	336	c.287C>T	c.(286-288)aCg>aTg	p.T96M	C4orf22_uc003hmf.3_Missense_Mutation_p.T96M	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	96										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATTTTCTGACGGCCCTGGCA	0.353000														32			14		0	0	0.003163	0	0
B3GAT1	27087	broad.mit.edu	37	11	134252684	134252684	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:134252684C>T	uc001qhq.3	-	4	1099	c.838G>A	c.(838-840)Gga>Aga	p.G280R	B3GAT1_uc001qhr.3_Missense_Mutation_p.G280R|B3GAT1_uc010scv.1_Missense_Mutation_p.G293R	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	280					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)		TGGTAGCCTCCCTTCACACCT	0.587000														36			11		0	0	0.002450	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117551	4117551	+	Missense_Mutation	SNP	A	C	C	rs121434498		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:4117551A>C	uc002lzk.3	-	1	423	c.169T>G	c.(169-171)Ttt>Gtt	p.F57V		NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	57			F -> C (in CFC syndrome).		ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTGAGAAAGGCTTCCAGC	0.597000														104			36		0	0	0.001485	0	0
COL4A4	1286	broad.mit.edu	37	2	228004933	228004933	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:228004933G>A	uc021vxr.1	-	2	237	c.136C>T	c.(136-138)Cct>Tct	p.P46S	COL4A4_uc021vxs.1_Missense_Mutation_p.P46S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	46	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P46P(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCCACAAGGACCAATGTAT	0.408000														55			17		0	0	0.000958	0	0
CHST11	50515	broad.mit.edu	37	12	105151090	105151090	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:105151090G>A	uc001tkz.3	+	2	1066	c.568G>A	c.(568-570)Gag>Aag	p.E190K	CHST11_uc001tky.3_Missense_Mutation_p.E185K	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	190					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGAGCCCTTCGAGAGGCTAGT	0.532000														27			11		0	0	0.001368	0	0
CCDC146	57639	broad.mit.edu	37	7	76909909	76909909	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:76909909G>A	uc003uga.3	+	13	1985	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	CCDC146_uc010ldp.3_Missense_Mutation_p.E334K|CCDC146_uc003ugc.3_5'Flank	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	620										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CACAATGATCGAAGAGGAGAT	0.418000														20			20		0	0	0.002299	0	0
CLCN1	1180	broad.mit.edu	37	7	143029844	143029844	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:143029844T>A	uc003wcr.1	+	11	1366	c.1279T>A	c.(1279-1281)Ttg>Atg	p.L427M	CLCN1_uc011ktc.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	427					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CATCAGTACTTTGTTTGACAA	0.512000														128			101		0	0	0.003610	0	0
ME3	10873	broad.mit.edu	37	11	86157399	86157399	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:86157399C>T	uc001pbz.3	-	11	1765	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	ME3_uc001pca.3_Missense_Mutation_p.G504E|ME3_uc009yvk.3_Missense_Mutation_p.G504E	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	504					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GTGCCGGATCCCGCCGGCGAT	0.552000														59			25		0	0	0.005443	0	0
C1orf111	284680	broad.mit.edu	37	1	162346550	162346550	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:162346550C>T	uc001gbx.2	-	0	95	c.31G>A	c.(31-33)Gga>Aga	p.G11R	C1orf226_uc010pkt.1_5'Flank	NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA.	11										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			ATTGGAGGTCCAGAGATGCTG	0.552000														68			8		0	0	0.004482	0	0
C1orf56	54964	broad.mit.edu	37	1	151020842	151020842	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:151020842C>G	uc001ewn.3	+	0	584	c.519C>G	c.(517-519)agC>agG	p.S173R	C1orf56_uc021oyi.1_Missense_Mutation_p.S173R	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	Homo sapiens chromosome 1 open reading frame 56 (C1orf56), mRNA.	173						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCACCCTGAGCCAGTGGTCCA	0.652000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			21		0	0	0.001882	0	0
PEG3	5178	broad.mit.edu	37	19	57327995	57327995	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:57327995C>T	uc002qnu.2	-	6	2166	c.1815G>A	c.(1813-1815)ggG>ggA	p.G605G	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.G576G|PEG3_uc002qnv.2_Silent_p.G605G|PEG3_uc002qnw.2_Silent_p.G481G|PEG3_uc002qnx.2_Silent_p.G479G|PEG3_uc010etr.2_Silent_p.G605G	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	605					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G605V(2)|p.R604H(1)|p.R604C(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)		TAAAGGTTTCCCCGCGCtcac	0.453000														18			28		0	0	0.001061	0	0
MYH1	4619	broad.mit.edu	37	17	10397913	10397913	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:10397913C>T	uc002gmo.3	-	37	5638	c.5544G>A	c.(5542-5544)gaG>gaA	p.E1848E	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1848						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCACTTTTCTCTCATGTTTGC	0.388000														44			51		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141752622	141752622	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:141752622C>T	uc003vwy.3	+	25	3051	c.2997C>T	c.(2995-2997)gtC>gtT	p.V999V		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	999	P-type 2.				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)	GCTATTTTGTCAACGACCTAT	0.438000														95			72		0	0	0.003610	0	0
OR13A1	79290	broad.mit.edu	37	10	45799226	45799226	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:45799226G>A	uc001jcc.1	-	3	954	c.645C>T	c.(643-645)gtC>gtT	p.V215V	OR13A1_uc001jcd.1_Silent_p.V211V|OR13A1_uc021ppq.1_Silent_p.V215V	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GGACAATCATGACACCGTTGA	0.532000														5			36		0	0	0.003271	0	0
RBBP8	5932	broad.mit.edu	37	18	20572771	20572771	+	Silent	SNP	T	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:20572771T>A	uc002kua.3	+	10	1104	c.981T>A	c.(979-981)tcT>tcA	p.S327S	RBBP8_uc002ktw.3_Silent_p.S327S|RBBP8_uc002kty.3_Silent_p.S327S|RBBP8_uc002ktz.3_Silent_p.S327S|RBBP8_uc002ktx.1_Silent_p.S327S	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	327					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAGTGTCATCTCCTGTATTTG	0.333000								Homologous recombination						96			37		0	0	0.001287	0	0
OR2L8	391190	broad.mit.edu	37	1	248112650	248112650	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248112650A>C	uc001idt.1	+	0	491	c.491A>C	c.(490-492)cAt>cCt	p.H164P	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L163L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TATGTACTCCATATTCCTTAT	0.478000														241			17		0	0	0.006122	0	0
HHIPL2	79802	broad.mit.edu	37	1	222700379	222700379	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:222700379G>A	uc001hnh.1	-	6	1795	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	579					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGGTCGCCAGGAAATACAGCT	0.443000														272			62		0	0	0.003610	0	0
PADI6	353238	broad.mit.edu	37	1	17723616	17723616	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:17723616G>A	uc001bak.1	+	14	1668	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	548					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAAGCCTGAAGAAGCAGAATG	0.567000														22			10		0	0	0.000673	0	0
DPPA3	359787	broad.mit.edu	37	12	7867946	7867946	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:7867946G>A	uc001qtf.3	+	1	328	c.250G>A	c.(250-252)Gga>Aga	p.G84R		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	84						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAGCAGGAGAGGAGTAAGAAC	0.493000														30			8		0	0	0.000443	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175678	140175678	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:140175678C>T	uc003lhd.2	+	0	1235	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.R377C|PCDHAC2_uc011czy.2_Missense_Mutation_p.R377C	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), 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)			GGTGTCGGATCGCGACTCTGG	0.522000														35			25		0	0	0.003954	0	0
SNTG1	54212	broad.mit.edu	37	8	51362228	51362228	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:51362228G>A	uc010lxy.1	+	7	591	c.220_splice	c.e7-1	p.G74_splice	SNTG1_uc003xqs.1_Splice_Site_p.G74_splice|SNTG1_uc010lxz.1_Splice_Site_p.G74_splice|SNTG1_uc011ldl.1_Splice_Site	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	74	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTCTTTTCAGGGAGGAGCAGA	0.343000														37			5		0	0	0.001168	0	0
STIM1	6786	broad.mit.edu	37	11	4112520	4112520	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:4112520C>T	uc021qco.1	+	11	2436	c.1868C>T	c.(1867-1869)aCc>aTc	p.T623I	STIM1_uc001lyv.2_Missense_Mutation_p.T517I|STIM1_uc009yef.2_Silent_p.D529D|STIM1_uc009yeg.2_Missense_Mutation_p.T344I	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	600	Pro/Ser-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AGGGATTTGACCCATTCCGAT	0.562000														94			30		0	0	0.003271	0	0
SDC2	6383	broad.mit.edu	37	8	97614757	97614757	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:97614757G>A	uc003yhv.1	+	3	924	c.306_splice	c.e3+1	p.K102_splice	SDC2_uc011lgu.1_Splice_Site_p.K73_splice	NM_002998	NP_002989	P34741	SDC2_HUMAN	Homo sapiens syndecan 2 (SDC2), mRNA.	102						integral to plasma membrane	PDZ domain binding|cytoskeletal protein binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	TCAGACAAAGGTGCGTTCTAT	0.383000														57			10		0	0	0.000978	0	0
ODZ1	10178	broad.mit.edu	37	X	123870807	123870807	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:123870807C>T	uc010nqy.3	-	4	840	c.776_splice	c.e4+1	p.R259_splice	ODZ1_uc011muj.2_Splice_Site_p.R259_splice|ODZ1_uc004euj.3_Splice_Site_p.R259_splice	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	259	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GCTCAAGTACCTGGTCTCCAA	0.493000														12			74		0	0	0.003610	0	0
CDH3	1001	broad.mit.edu	37	16	68721503	68721503	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:68721503C>T	uc002ewf.2	+	11	2791	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	CDH3_uc010vli.1_Silent_p.I498I	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	553	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCCGTCAGATCACCATCTGCA	0.572000														65			29		0	0	0.002445	0	0
DNAH5	1767	broad.mit.edu	37	5	13692194	13692194	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:13692194G>A	uc003jfd.2	-	78	13816	c.13774C>T	c.(13774-13776)Cga>Tga	p.R4592*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.R760*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4592					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4592*(2)		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)					AAGTCCGTTCGAACTGGCTTC	0.468000									Kartagener syndrome					36			14		0	0	0.002450	0	0
DNAH9	1770	broad.mit.edu	37	17	11711058	11711058	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:11711058C>T	uc002gne.3	+	43	8498	c.8430C>T	c.(8428-8430)atC>atT	p.I2810I	DNAH9_uc010coo.3_Silent_p.I2104I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2810	AAA 4 (By similarity).				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)		GCTGCCATATCAATCGCATCT	0.537000														35			51		0	0	0.003610	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180660	32180661	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:32180660_32180661CC>TT	uc003obb.3	-	15	2605_2606	c.2466_2467GG>AA	c.(2464-2469)caggac>caAAac	p.D823N	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	823	EGF-like 21.				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						TGAGGGCTGTCCTGGCAGGTTG	0.594000														153			55		0	0	0.004672	0	0
SMAD2	4087	broad.mit.edu	37	18	45377680	45377680	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:45377680G>A	uc002lcy.3	-	6	997	c.749C>T	c.(748-750)tCt>tTt	p.S250F	SMAD2_uc002lcz.3_Missense_Mutation_p.S250F|SMAD2_uc010xdc.2_Missense_Mutation_p.S220F|SMAD2_uc010xdd.1_Missense_Mutation_p.S220F	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	250					SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						AGTAGTAGGAGATAGTTCTGC	0.323000														111			34		0	0	0.001287	0	0
VPS4B	9525	broad.mit.edu	37	18	61060688	61060688	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:61060688C>T	uc002lix.3	-	9	1447	c.1187G>A	c.(1186-1188)tGg>tAg	p.W396*		NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	396					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GACATCCATCCATGTCATTTC	0.398000														80			22		0	0	0.003954	0	0
ZNF831	128611	broad.mit.edu	37	20	57769720	57769720	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:57769720C>T	uc002yan.3	+	0	3646	c.3646C>T	c.(3646-3648)Ctc>Ttc	p.L1216F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1216						intracellular	nucleic acid binding|zinc ion binding			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)					TGGTAGCAGCCTCCGAGATGA	0.622000														19			18		0	0	0.006122	0	0
MTUS2	23281	broad.mit.edu	37	13	29600817	29600817	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:29600817C>T	uc001usl.4	+	0	2070	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	661	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTGGACGCCTCGCTGGTTCCA	0.587000														29			9		0	0	0.004482	0	0
ZNF229	7772	broad.mit.edu	37	19	44932656	44932656	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:44932656G>A	uc002oze.1	-	5	2734	c.2300C>T	c.(2299-2301)cCc>cTc	p.P767L	ZNF229_uc010ejk.1_Missense_Mutation_p.P421L|ZNF229_uc010ejl.1_Missense_Mutation_p.P761L	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	767					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACATTTATAGGGTTTCTCACC	0.522000														67			10		0	0	0.000443	0	0
OR5H14	403273	broad.mit.edu	37	3	97868839	97868839	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:97868839G>A	uc003dsg.1	+	0	610	c.610G>A	c.(610-612)Ggt>Agt	p.G204S		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATTTTTGCAGGTTCAATTCA	0.303000														39			14		0	0	0.001855	0	0
ARID2	196528	broad.mit.edu	37	12	46125098	46125098	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:46125098G>A	uc001ros.1	+	3	284	c.284_splice	c.e3+1	p.R95_splice	ARID2_uc001ror.3_Splice_Site_p.R95_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	95	ARID.				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)		ATTACTTGCGGTGAGTAGTAG	0.378000			"""N, S, F"""		hepatocellular carcinoma									23			27		0	0	0.005443	0	0
RGPD4	285190	broad.mit.edu	37	2	108487866	108487866	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:108487866G>A	uc010ywk.2	+	19	3488	c.3406G>A	c.(3406-3408)Gat>Aat	p.D1136N	RGPD4_uc002tdu.3_Missense_Mutation_p.D323N|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1136	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTCAGCCAGTGATTTCTCTGA	0.433000														9			178		0	0	0.003610	0	0
ZNF284	342909	broad.mit.edu	37	19	44590208	44590208	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:44590208C>T	uc002oyg.1	+	4	793	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TCTTTGTCTTCATCAGAAAGT	0.398000														32			9		0	0	0.000443	0	0
FARP2	9855	broad.mit.edu	37	2	242402023	242402023	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:242402023C>T	uc002wbi.2	+	14	1837	c.1673C>T	c.(1672-1674)aCc>aTc	p.T558I	FARP2_uc010zoq.2_Missense_Mutation_p.T558I|FARP2_uc010zor.2_Missense_Mutation_p.T558I	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	558	DH.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GAAGTTATTACCGTGGTACGA	0.358000														49			11		0	0	0.000978	0	0
LRRC41	10489	broad.mit.edu	37	1	46745898	46745898	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:46745898C>T	uc001cpn.3	-	6	2030	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E	LRRC41_uc010omb.2_Silent_p.E662E	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	662										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AAAAGAGCACCTCGCTCTGAC	0.473000														74			24		0	0	0.003954	0	0
FAT4	79633	broad.mit.edu	37	4	126372959	126372959	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:126372959C>T	uc003ifj.4	+	8	10788	c.10788C>T	c.(10786-10788)tcC>tcT	p.S3596S	FAT4_uc011cgp.2_Silent_p.S1894S|FAT4_uc003ifi.1_Silent_p.S1074S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3596	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGTCTTCCACAGGAACTG	0.428000														83			31		0	0	0.002445	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551704	1551704	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:1551704G>A	uc010gai.3	-	3	930	c.831C>T	c.(829-831)ttC>ttT	p.F277F	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	277	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCCGGGGGTAGAAATTGCTCA	0.537000														43			24		0	0	0.004656	0	0
PRB2	653247	broad.mit.edu	37	12	11546239	11546239	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:11546239G>A	uc010shk.1	-	2	808	c.773C>T	c.(772-774)cCt>cTt	p.P258L		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTGGAGGAGGTGGGGGACC	0.617000														165			16		0	0	0.005443	0	0
C18orf34	374864	broad.mit.edu	37	18	30672827	30672827	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:30672827C>T	uc010xbr.1	-	19	2428	c.2286G>A	c.(2284-2286)gaG>gaA	p.E762E	C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc002kxn.2_Silent_p.E762E|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.E724E|C18orf34_uc002kxp.3_Silent_p.E762E	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	762										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						GCTGTTGATACTCTTGAGCTA	0.264000														37			30		0	0	0.003271	0	0
TESK2	10420	broad.mit.edu	37	1	45813304	45813305	+	Nonsense_Mutation	DNP	GG	AC	AC			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:45813304_45813305GG>AC	uc001cns.1	-	6	1087_1088	c.684_685CC>GT	c.(682-687)ctccga>ctGTga	p.R229*	TESK2_uc009vxr.1_Nonsense_Mutation_p.R229*|TESK2_uc010olo.1_Nonsense_Mutation_p.R146*|TESK2_uc009vxs.1_Nonsense_Mutation_p.R21*	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	229	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R213*(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GGCTCATCTCGGAGAACCTCAG	0.465000														109			30		0	0	0.004672	0	0
OR10J3	441911	broad.mit.edu	37	1	159283492	159283492	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:159283492C>T	uc010piu.2	-	0	958	c.958G>A	c.(958-960)Ggc>Agc	p.G320S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					AAGGAAAAGCCTTCACAACCT	0.398000														104			16		0	0	0.004990	0	0
NOVA1	4857	broad.mit.edu	37	14	26941528	26941528	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:26941528G>A	uc001wqa.3	-	4	937	c.151C>T	c.(151-153)Cag>Tag	p.Q51*	NOVA1_uc001wpy.3_Nonsense_Mutation_p.Q173*|NOVA1_uc001wpz.3_Intron|NOVA1_uc001wqb.3_Nonsense_Mutation_p.Q173*	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	176	KH 1.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TACTGTACCTGATTAGCTCTG	0.448000														4			18		0	0	0.001523	0	0
PABPC3	5042	broad.mit.edu	37	13	25670978	25670978	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:25670978C>T	uc001upy.3	+	0	703	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	214	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTGGCAAGTTCGGGCCCGCCT	0.433000														39			16		0	0	0.006122	0	0
SEC22B	9554	broad.mit.edu	37	1	145112510	145112510	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:145112510G>A	uc001eml.1	+	4	621	c.481G>A	c.(481-483)Gca>Aca	p.A161T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	162	v-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										ACGAGGAGAAGCACTCTCAGG	0.408000														146			7		0	0	0.001984	0	0
PODXL2	50512	broad.mit.edu	37	3	127379360	127379360	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:127379360G>A	uc003ejq.2	+	2	513	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	163	Glu-rich.				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGagaggaggaagaagagg	0.552000														29			17		0	0	0.004007	0	0
SHPK	23729	broad.mit.edu	37	17	3527496	3527496	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:3527496G>A	uc002fvz.1	-	2	443	c.340C>T	c.(340-342)Ccg>Tcg	p.P114S		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	114					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		TCGAACACCGGGGTAATCCCT	0.547000														30			4		0	0	0.000248	0	0
FREM2	341640	broad.mit.edu	37	13	39264977	39264977	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:39264977C>T	uc001uwv.3	+	0	3805	c.3496C>T	c.(3496-3498)Cgt>Tgt	p.R1166C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1166					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTTGTATTTCGTTGTTCTGA	0.418000														52			66		0	0	0.003610	0	0
CYLC1	1538	broad.mit.edu	37	X	83128413	83128413	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:83128413C>T	uc004eei.1	+	3	718	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	CYLC1_uc004eeh.1_Missense_Mutation_p.P232S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	233					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TAGTAATGATCCCATATCAGA	0.328000														1			8		0	0	0.004482	0	0
OR4N4	283694	broad.mit.edu	37	15	22383270	22383270	+	Silent	SNP	A	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:22383270A>T	uc001yuc.1	+	6	1779	c.798A>T	c.(796-798)ccA>ccT	p.P266P	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.P266P	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGGCCTTACCAGCTGACAAGA	0.428000														188			42		0	0	0.002522	0	0
ABL1	25	broad.mit.edu	37	9	133755918	133755918	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:133755918C>T	uc004bzw.3	+	9	1548	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	ABL1_uc004bzv.3_Silent_p.V534V	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	515					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AACAAGGCGTCCGTGGGGCTG	0.562000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									17			17		0	0	0.000958	0	0
NLRP13	126204	broad.mit.edu	37	19	56424406	56424406	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:56424406C>T	uc010ygg.2	-	4	802	c.777G>A	c.(775-777)caG>caA	p.Q259Q		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	259	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGAACCTTTGCTGAAAGAGAA	0.483000														66			63		0	0	0.003610	0	0
ZFHX3	463	broad.mit.edu	37	16	72991901	72991901	+	Missense_Mutation	SNP	C	T	T	rs147160019		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:72991901C>T	uc002fck.3	-	1	2817	c.2144G>A	c.(2143-2145)cGa>cAa	p.R715Q	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	715					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTCTCGCCTCGTGCCAGCCG	0.587000														83			32		0	0	0.002096	0	0
FGF5	2250	broad.mit.edu	37	4	81207688	81207688	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:81207688G>A	uc003hmd.3	+	2	906	c.669G>A	c.(667-669)gaG>gaA	p.E223E	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	223					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCAGTCGGAGCAGCCAGAAC	0.483000														42			13		0	0	0.002450	0	0
F8	2157	broad.mit.edu	37	X	154157263	154157263	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:154157263G>A	uc004fmt.3	-	13	4973	c.4802C>T	c.(4801-4803)tCc>tTc	p.S1601F		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1601	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)	CTTCTCTTGGGATTTCCACTC	0.413000														7			64		0	0	0.003610	0	0
GPR115	221393	broad.mit.edu	37	6	47678608	47678608	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:47678608G>A	uc003oyz.1	+	4	457	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	GPR115_uc003oza.1_Missense_Mutation_p.E96K|GPR115_uc003ozb.1_Missense_Mutation_p.E96K	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	96					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCTTTCTGTGGAAAAACTCTT	0.393000														31			33		0	0	0.003755	0	0
OVOS2	0	broad.mit.edu	37	12	31291126	31291126	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:31291126G>A	uc010sjy.1	-	14	2036	c.2036C>T	c.(2035-2037)cCa>cTa	p.P679L						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTTAGGGAGTGGCAGCCTTCT	0.378000														30			14		0	0	0.002450	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34093290	34093290	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:34093290C>T	uc001mvh.1	+	2	423	c.234C>T	c.(232-234)taC>taT	p.Y78Y	CAPRIN1_uc001mvg.3_Silent_p.Y78Y|CAPRIN1_uc001mvi.2_Silent_p.Y78Y|CAPRIN1_uc001mvj.1_5'UTR	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	78					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding	p.Y78C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TTGATGATTACCAGGAACGAA	0.328000														24			11		0	0	0.001855	0	0
CDH6	1004	broad.mit.edu	37	5	31323178	31323178	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:31323178C>T	uc003jhe.2	+	11	2496	c.2136C>T	c.(2134-2136)gtC>gtT	p.V712V		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	712					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D711N(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACACCGATGTCAGAGATTTCA	0.527000														18			21		0	0	0.003330	0	0
ABCA12	26154	broad.mit.edu	37	2	215928822	215928822	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:215928822C>T	uc002vew.3	-	2	504	c.284G>A	c.(283-285)aGg>aAg	p.R95K	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.	95					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)		AATTCCTTTCCTACGAAGCAG	0.438000														77			33		0	0	0.004289	0	0
FMNL2	114793	broad.mit.edu	37	2	153476148	153476148	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:153476148C>T	uc002tye.3	+	14	2120	c.1753C>T	c.(1753-1755)Cct>Tct	p.P585S	FMNL2_uc010fob.3_Missense_Mutation_p.P34S|FMNL2_uc002tyf.3_Missense_Mutation_p.P34S	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	585	Pro-rich.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TGTACCAGCTCCTCCCTTAGC	0.632000														16			8		0	0	0.003080	0	0
FBXW12	285231	broad.mit.edu	37	3	48423247	48423247	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:48423247G>A	uc003csr.3	+	8	1229	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	FBXW12_uc010hjv.3_Missense_Mutation_p.G329E|FBXW12_uc003css.3_Missense_Mutation_p.G278E|FBXW12_uc010hjw.3_Missense_Mutation_p.G247E	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	348										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCTGGATGGGAGCCAGTGAT	0.443000														38			15		0	0	0.004007	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19429080	19429080	+	RNA	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:19429080G>A	uc010tcj.1	-	0		c.17030C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CTCtttttatgaaactgggtc	0.428000														25			6		0	0	0.001168	0	0
TTYH2	94015	broad.mit.edu	37	17	72248444	72248444	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:72248444C>T	uc002jkc.3	+	10	1219	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	TTYH2_uc010wqw.2_Silent_p.S375S|TTYH2_uc002jkd.3_Silent_p.S75S	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	396						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GCCTCTTCTCCTTCCTGGCCG	0.612000														33			15		0	0	0.004007	0	0
TACC3	10460	broad.mit.edu	37	4	1742603	1742603	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:1742603C>T	uc003gdo.3	+	12	2268	c.2113C>T	c.(2113-2115)Cta>Tta	p.L705L	TACC3_uc003gdp.3_Silent_p.L345L	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	705						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCAGAAAGTTCTAAAAGAAAA	0.433000														29			36		0	0	0.002836	0	0
DCC	1630	broad.mit.edu	37	18	50705338	50705338	+	Silent	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr18:50705338A>G	uc002lfe.2	+	8	2041	c.1425A>G	c.(1423-1425)cgA>cgG	p.R475R	DCC_uc010xdr.1_Silent_p.R323R|DCC_uc010dpf.2_Silent_p.R130R	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	475	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCAGGGAACGAGCATTGAATA	0.438000														44			32		0	0	0.002836	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472618	53472618	+	RNA	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:53472618C>T	uc002qan.4	-	3		c.1883G>A								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		AGTAAAGTTTCCCTATGACAT	0.393000														10			4		0	0	0.000602	0	0
KRT1	3848	broad.mit.edu	37	12	53070866	53070866	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:53070866C>T	uc001sau.1	-	5	1290	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	KRT1_uc001sav.1_Missense_Mutation_p.E411K	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	411	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TTGTCGATTTCAGATCTAAGT	0.458000														21			27		0	0	0.004656	0	0
FAM188B	84182	broad.mit.edu	37	7	30963205	30963205	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:30963205C>T	uc003tbv.2	+	3	881	c.771C>T	c.(769-771)gcC>gcT	p.A257A	FAM188B_uc011kac.1_Silent_p.A317A|FAM188B_uc010kwf.1_Silent_p.A174A|FAM188B_uc010kwh.1_Silent_p.A206A|FAM188B_uc022abh.1_Silent_p.A142A	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	141										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTGGATGCCGACGACATCA	0.637000														30			5		0	0	0.000602	0	0
EP400NL	347918	broad.mit.edu	37	12	132589002	132589002	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:132589002C>T	uc001ujv.3	+	0	461	c.437C>T	c.(436-438)cCt>cTt	p.P146L	EP400NL_uc001ujr.2_Intron|EP400NL_uc001ujs.4_Missense_Mutation_p.P77L|EP400NL_uc009zyq.3_Intron|EP400NL_uc001ujt.3_Intron|EP400NL_uc001ujw.1_5'Flank					Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						GCCCCTGGCCCTGGGCTGGGC	0.672000														3			9		0	0	0.001368	0	0
HHIP	64399	broad.mit.edu	37	4	145627713	145627713	+	Missense_Mutation	SNP	G	A	A	rs146905204		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:145627713G>A	uc003ijs.2	+	4	1542	c.862G>A	c.(862-864)Gca>Aca	p.A288T		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	288						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCTAAGCCTCGCATTCCATCC	0.413000														14			6		0	0	0.001984	0	0
LHFPL5	222662	broad.mit.edu	37	6	35782489	35782489	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:35782489C>T	uc003olg.1	+	1	956	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	193						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCATCCTCTCCTTCCTGGCCT	0.612000														45			18		0	0	0.006122	0	0
ATP10B	23120	broad.mit.edu	37	5	160063227	160063227	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:160063227C>T	uc003lym.1	-	10	1937	c.1090G>A	c.(1090-1092)Ggc>Agc	p.G364S	ATP10B_uc003lyp.2_Missense_Mutation_p.G364S|ATP10B_uc011deg.1_Missense_Mutation_p.G408S|ATP10B_uc003lyn.3_5'Flank|ATP10B_uc003lyo.2_Missense_Mutation_p.G336S	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	364					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGTAGAAGCCCCCAAGGGCA	0.527000														22			40		0	0	0.001706	0	0
FLT4	2324	broad.mit.edu	37	5	180057595	180057595	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr5:180057595G>A	uc003mlz.4	-	2	439	c.360C>T	c.(358-360)atC>atT	p.I120I	FLT4_uc003mma.4_Silent_p.I120I|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Silent_p.I120I|FLT4_uc011dgz.1_Silent_p.I120I|FLT4_uc011dha.1_Silent_p.I120I	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	120	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTGCCCTCGATGCGTGCCT	0.642000														26			15		0	0	0.003163	0	0
WDR47	22911	broad.mit.edu	37	1	109553733	109553733	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:109553733G>A	uc001dwl.3	-	4	1332	c.956C>T	c.(955-957)tCt>tTt	p.S319F	WDR47_uc001dwi.3_Missense_Mutation_p.S312F|WDR47_uc001dwj.3_Missense_Mutation_p.S312F|WDR47_uc001dwk.2_Missense_Mutation_p.S284F|WDR47_uc010ovf.2_Missense_Mutation_p.S239F	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	312										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGGATTCAGAGAGCGGGTCAT	0.443000														506			206		0	0	0.003610	0	0
PARD3	56288	broad.mit.edu	37	10	34663807	34663807	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:34663807C>T	uc010qej.2	-	10	1993	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	PARD3_uc010qep.2_Missense_Mutation_p.E511K|PARD3_uc010qeq.2_Missense_Mutation_p.E511K|PARD3_uc010qek.2_Missense_Mutation_p.E555K|PARD3_uc010qel.2_Missense_Mutation_p.E555K|PARD3_uc010qem.2_Missense_Mutation_p.E555K|PARD3_uc010qen.2_Missense_Mutation_p.E555K|PARD3_uc010qeo.2_Missense_Mutation_p.E555K|PARD3_uc001ixo.2_Missense_Mutation_p.E285K|PARD3_uc001ixr.2_Missense_Mutation_p.E555K|PARD3_uc001ixq.2_Missense_Mutation_p.E555K|PARD3_uc001ixp.2_Missense_Mutation_p.E555K|PARD3_uc001ixt.1_Missense_Mutation_p.E376K|PARD3_uc001ixu.2_Missense_Mutation_p.E511K|PARD3_uc001ixs.1_Missense_Mutation_p.E208K	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	555					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CACACCAGTTCCCTTGGGTGG	0.463000														81			49		0	0	0.003610	0	0
DNAI2	64446	broad.mit.edu	37	17	72305472	72305472	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:72305472C>T	uc002jkf.3	+	9	1402	c.1292C>T	c.(1291-1293)aCc>aTc	p.T431I	DNAI2_uc002jkg.3_Missense_Mutation_p.T431I|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_Missense_Mutation_p.G88D|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	431					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATGGACGGAACCCTGGATATC	0.582000									Kartagener syndrome					28			11		0	0	0.000673	0	0
C9orf171	389799	broad.mit.edu	37	9	135447805	135447805	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:135447805G>A	uc004cbn.3	+	6	919	c.871G>A	c.(871-873)Gag>Aag	p.E291K	C9orf171_uc004cbo.3_Missense_Mutation_p.E255K	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	291								p.T290M(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GTTCCCCACGGAGGCCGATCG	0.627000														7			42		0	0	0.002522	0	0
EEF1A2	1917	broad.mit.edu	37	20	62121832	62121832	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:62121832C>T	uc002yfe.1	-	6	1195	c.1029_splice	c.e6+1	p.Q343_splice		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	343						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			AGCCCCCCACCTGGGAGGTGA	0.672000														40			13		0	0	0.004990	0	0
TRIM44	54765	broad.mit.edu	37	11	35747614	35747614	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:35747614C>T	uc001mwi.2	+	2	1197	c.890C>T	c.(889-891)gCa>gTa	p.A297V		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	Homo sapiens tripartite motif containing 44 (TRIM44), mRNA.	297						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				GAGATACTGGCAGACATCCAA	0.478000														30			13		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179473102	179473102	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:179473102C>T	uc021vsy.1	-	223	45029	c.44804G>A	c.(44803-44805)gGt>gAt	p.G14935D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8630D|TTN_uc021vta.1_Missense_Mutation_p.G8563D|TTN_uc021vtb.1_Missense_Mutation_p.G8438D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15862	Fibronectin type-III 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I14935M(1)		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)			AAGCCAGTAACCCAAAATGGG	0.418000														10			18		0	0	0.006122	0	0
YLPM1	56252	broad.mit.edu	37	14	75248562	75248562	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:75248562C>T	uc001xqj.4	+	3	1940	c.1816C>T	c.(1816-1818)Ccc>Tcc	p.P606S	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCAGTTCTTCCCCCACCATC	0.597000														8			72		0	0	0.003610	0	0
OR6C65	403282	broad.mit.edu	37	12	55794584	55794584	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:55794584C>T	uc010spl.2	+	0	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91F(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACAACCATTTCCTATAATGCT	0.353000														37			44		0	0	0.003610	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181945	57181945	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:57181945C>T	uc003hbk.2	+	7	2668	c.2277C>T	c.(2275-2277)ccC>ccT	p.P759P	KIAA1211_uc010iha.2_Silent_p.P752P|KIAA1211_uc011bzz.1_Silent_p.P669P|KIAA1211_uc003hbm.1_Silent_p.P645P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	759										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGACAGCCCCCCAGCCTCCTC	0.592000														30			15		0	0	0.002450	0	0
TRPM6	140803	broad.mit.edu	37	9	77377006	77377006	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:77377006G>A	uc004ajl.1	-	25	4819	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I	TRPM6_uc004ajk.1_Silent_p.I1522I|TRPM6_uc022bib.1_Silent_p.I1522I|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.I483I	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1527					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAGAGGATTGATCCAAAAGG	0.453000														11			36		0	0	0.005524	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638273	46638273	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:46638273G>A	uc002eec.4	-	5	830	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	264										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTGCTTCTCAGATTTAAAAAT	0.383000														76			32		0	0	0.002096	0	0
MYH7B	57644	broad.mit.edu	37	20	33589068	33589068	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:33589068G>A	uc002xbi.2	+	41	5939	c.5622G>A	c.(5620-5622)gaG>gaA	p.E1874E		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1832						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGAGGCTGAGCTTGATGCAG	0.657000														17			6		0	0	0.001984	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329589	23329589	+	RNA	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:23329589C>T	uc002nrb.1	+	3		c.1942C>T								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TAAGATAATTCATACTGGAGA	0.348000														14			5		0	0	0.000602	0	0
CEP128	145508	broad.mit.edu	37	14	81046764	81046764	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr14:81046764A>G	uc001xux.2	-	18	2981	c.2810T>C	c.(2809-2811)cTa>cCa	p.L937P	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	937						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTCTTCCAGTAGATCTGTAAT	0.338000														7			26		0	0	0.001271	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734515	12734515	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:12734515C>T	uc004cuz.2	+	14	2443	c.1937C>T	c.(1936-1938)cCg>cTg	p.P646L	FRMPD4_uc011mij.2_Missense_Mutation_p.P638L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	646					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAGGAATCTCCGAGAGGAGCT	0.522000														11			47		0	0	0.003610	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484880	97484880	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:97484880C>T	uc001vmw.3	+	1	868	c.844C>T	c.(844-846)Cct>Tct	p.P282S		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	282						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGATGAGCTGCCTACCTGCTA	0.557000														31			15		0	0	0.002450	0	0
ZNF398	57541	broad.mit.edu	37	7	148876807	148876807	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:148876807C>A	uc011kum.2	+	6	1999	c.1858C>A	c.(1858-1860)Ctt>Att	p.L620I	ZNF398_uc011kul.2_Missense_Mutation_p.L444I|ZNF398_uc003wfl.3_Missense_Mutation_p.L615I	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	615					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CATAACTGGGCTTGAAACTTC	0.547000														40			17		1.99824e-07	3.91127e-07	0.004990	1	0
ANO1	55107	broad.mit.edu	37	11	70007353	70007353	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:70007353C>T	uc001opj.3	+	16	1970	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.S497S|ANO1_uc010rqk.2_Silent_p.S264S	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	555					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCTCCCCCTCCGTGCGGTCCA	0.582000														51			17		0	0	0.001523	0	0
TRPM5	29850	broad.mit.edu	37	11	2434027	2434027	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:2434027A>C	uc010qxl.2	-	14	2321	c.2312T>G	c.(2311-2313)cTc>cGc	p.L771R	TRPM5_uc001lwm.4_Missense_Mutation_p.L771R|TRPM5_uc009ydn.3_Missense_Mutation_p.L773R	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	771						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGAAGTAGAGGGTGACCTC	0.622000														160			76		0	0	0.003610	0	0
CHIA	27159	broad.mit.edu	37	1	111857955	111857955	+	Silent	SNP	C	T	T	rs41282498		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:111857955C>T	uc001eas.3	+	5	535	c.378C>T	c.(376-378)ttC>ttT	p.F126F	CHIA_uc001ear.3_Silent_p.F18F|CHIA_uc001eaq.3_Silent_p.F18F|CHIA_uc009wgc.3_Silent_p.F18F|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	126					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TCATCAAATTCCTGCGCCAGT	0.547000														43			79		0	0	0.003610	0	0
TECTA	7007	broad.mit.edu	37	11	121000744	121000744	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:121000744C>T	uc010rzo.2	+	8	2765	c.2765C>T	c.(2764-2766)tCc>tTc	p.S922F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	922	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCAACAGCTCCTTCCTGGAG	0.582000														47			15		0	0	0.003163	0	0
CD163	9332	broad.mit.edu	37	12	7649493	7649493	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:7649493C>T	uc001qsz.3	-	4	1143	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	CD163_uc001qta.3_Missense_Mutation_p.E339K|CD163_uc009zfw.2_Missense_Mutation_p.E339K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	339	SRCR 3.				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						ATAGCAGGTTCATGTCCCTGG	0.468000														40			16		0	0	0.004007	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902367	24902367	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:24902367C>T	uc002dmu.3	+	8	1073	c.842C>T	c.(841-843)cCa>cTa	p.P281L	SLC5A11_uc002dms.3_Missense_Mutation_p.P217L|SLC5A11_uc010vcd.2_Missense_Mutation_p.P246L|SLC5A11_uc002dmt.3_Intron|SLC5A11_uc010vce.2_Missense_Mutation_p.P211L|SLC5A11_uc010bxt.3_Missense_Mutation_p.P217L	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	281					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		ATGTCCATCCCATCCCTCTGG	0.557000														49			75		0	0	0.003610	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505617	44505617	+	Silent	SNP	T	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:44505617T>C	uc002xqd.3	+	1	665	c.420T>C	c.(418-420)acT>acC	p.T140T	ZSWIM3_uc010zxg.2_Silent_p.T134T	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	140							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ACCTTGACACTGCCGAGAAGT	0.522000														31			34		0	0	0.003271	0	0
ZNF835	90485	broad.mit.edu	37	19	57175274	57175274	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:57175274G>A	uc010ygn.2	-	1	1520	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGCGAGCGAGGAGCCCTGGC	0.657000														53			10		0	0	0.000443	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004635	75004635	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chrX:75004635G>A	uc004ecj.2	-	0	445	c.252C>T	c.(250-252)gtC>gtT	p.V84V		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	84										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGGTCATGGACCCTGAGCG	0.542000														0			27		0	0	0.002445	0	0
ADAM29	11086	broad.mit.edu	37	4	175897899	175897899	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:175897899G>A	uc003iuc.3	+	4	1893	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	ADAM29_uc003iud.3_Missense_Mutation_p.G408E|ADAM29_uc010irr.3_Missense_Mutation_p.G408E|ADAM29_uc011cki.2_Missense_Mutation_p.G408E|ADAM29_uc021xuo.1_Missense_Mutation_p.G408E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	408	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTGAAGAAGGAGAAGAGTGT	0.428000														65			81		0	0	0.003610	0	0
TREML4	285852	broad.mit.edu	37	6	41197297	41197297	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr6:41197297C>T	uc003oqc.3	+	2	537	c.433C>T	c.(433-435)Cca>Tca	p.P145S	TREML4_uc003oqd.3_Non-coding_Transcript	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	145						extracellular region		p.P145Q(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCCCTGGCTCCCAACAAGCAC	0.572000														162			36		0	0	0.001951	0	0
SV2B	9899	broad.mit.edu	37	15	91795167	91795167	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr15:91795167C>T	uc002bqv.3	+	3	1461	c.570C>T	c.(568-570)tcC>tcT	p.S190S	SV2B_uc002bqt.3_Silent_p.S190S|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.S39S	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	190					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCTTCGCCTCCCTCTCTTCCT	0.587000														261			217		0	0	0.003610	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093698	69093698	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:69093698C>T	uc003hdw.4	-	9	1318	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	394	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CTGGCTTATTCTTTTTACCAC	0.393000														39			17		0	0	0.001523	0	0
TEK	7010	broad.mit.edu	37	9	27206633	27206633	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr9:27206633G>C	uc011lno.2	+	13	2731	c.2289G>C	c.(2287-2289)aaG>aaC	p.K763N	TEK_uc003zqi.4_Missense_Mutation_p.K806N|TEK_uc011lnp.2_Missense_Mutation_p.K658N|TEK_uc003zqj.1_Missense_Mutation_p.K740N	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	806					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TAAACAGGAAGGTCAAAAACA	0.398000														14			10		0	0	0.000673	0	0
OR2T2	401992	broad.mit.edu	37	1	248616254	248616254	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:248616254G>A	uc001iek.1	+	0	156	c.156G>A	c.(154-156)atG>atA	p.M52I		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCCACATGGACTCCCGCC	0.517000														167			17		0	0	0.001786	0	0
NCF1C	654817	broad.mit.edu	37	7	74582452	74582452	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr7:74582452G>A	uc003ubv.3	-	3	352	c.213C>T	c.(211-213)acC>acT	p.T71T	NCF1C_uc011kfn.2_Silent_p.T71T|NCF1C_uc011kfo.2_Silent_p.T69T					Homo sapiens neutrophil cytosolic factor 1C pseudogene (NCF1C), non-coding RNA.																		TGCAGTACTCGGTAAGTGTGC	0.622000														51			14		0	0	0.006122	0	0
KCNV1	27012	broad.mit.edu	37	8	110984918	110984918	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:110984918C>G	uc003ynr.4	-	1	1364	c.560G>C	c.(559-561)gGa>gCa	p.G187A	KCNV1_uc010mcw.3_Missense_Mutation_p.G187A	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	187						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.Q186K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGGACAAGGTCCTTGGGAGAA	0.473000														68			25		0	0	0.003330	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956272	18956272	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:18956272C>T	uc001mpg.3	-	0	278	c.60G>A	c.(58-60)gaG>gaA	p.E20E		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	20					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E19D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCAAAGAGTCTCCTCAGTTC	0.532000														134			55		0	0	0.003610	0	0
FAIM3	9214	broad.mit.edu	37	1	207086345	207086345	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:207086345G>A	uc001hey.3	-	2	595	c.416C>T	c.(415-417)cCa>cTa	p.P139L	FAIM3_uc010prz.2_Missense_Mutation_p.P27L|FAIM3_uc021pif.1_Missense_Mutation_p.P139L|FAIM3_uc010psa.2_Missense_Mutation_p.P48L	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	139					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					AAACCATTTTGGAGTCTCAGG	0.488000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		413			108		0	0	0.003610	0	0
BPTF	2186	broad.mit.edu	37	17	65871076	65871076	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:65871076C>T	uc002jgf.3	+	3	1865	c.1804C>T	c.(1804-1806)Ctt>Ttt	p.L602F	BPTF_uc002jge.3_Missense_Mutation_p.L602F|BPTF_uc010wqm.1_Missense_Mutation_p.L602F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	715					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)			AGACCAGTCCCTTGAAAAAGA	0.343000														43			74		0	0	0.003610	0	0
USP6	9098	broad.mit.edu	37	17	5072137	5072137	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:5072137G>A	uc002gau.1	+	34	5534	c.3304G>A	c.(3304-3306)Gaa>Aaa	p.E1102K	USP6_uc002gav.1_Missense_Mutation_p.E1102K|USP6_uc010ckz.1_Missense_Mutation_p.E785K	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1102					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATTTCTTCGGGAAAGTTTTGA	0.438000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									135			50		0	0	0.003610	0	0
TMEM160	54958	broad.mit.edu	37	19	47549939	47549939	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:47549939G>A	uc002pfz.3	-	1	223	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_017854	NP_060324	Q9NX00	TM160_HUMAN	Homo sapiens transmembrane protein 160 (TMEM160), mRNA.	71						integral to membrane				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		ACCAGGAGAGGAAGGCTGGAG	0.597000														58			46		0	0	0.003610	0	0
OR8I2	120586	broad.mit.edu	37	11	55861181	55861181	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr11:55861181C>T	uc010rix.2	+	0	398	c.398C>T	c.(397-399)tCa>tTa	p.S133L		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTACTGTATTCAGTAGTCATG	0.433000														79			30		0	0	0.002445	0	0
SRBD1	55133	broad.mit.edu	37	2	45829063	45829063	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:45829063G>A	uc002rus.3	-	2	316	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	80	Poly-Val.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TAACAACAACGACTTCTGAGC	0.483000														70			108		0	0	0.003610	0	0
S1PR1	1901	broad.mit.edu	37	1	101705413	101705413	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:101705413C>T	uc021oqt.1	+	0	873	c.873C>T	c.(871-873)ttC>ttT	p.F291F	S1PR1_uc001dud.2_Silent_p.F291F|S1PR1_uc009weg.2_Silent_p.F291F	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	291					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACATCCTCTTCAGAGCGGAGT	0.552000														154			66		0	0	0.003610	0	0
INSR	3643	broad.mit.edu	37	19	7152745	7152745	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:7152745G>A	uc002mgd.1	-	9	2332	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F	INSR_uc002mge.1_Silent_p.F741F|INSR_uc002mgf.3_Silent_p.F741F	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	741					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTGGGGACGAAAACCACGT	0.537000														279			65		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9075484	9075484	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:9075484C>T	uc002mkp.3	-	2	12166	c.11962G>A	c.(11962-11964)Gaa>Aaa	p.E3988K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3990	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						ATTGCTTGTTCCCTGGTGGAG	0.488000														28			31		0	0	0.002096	0	0
OGDHL	55753	broad.mit.edu	37	10	50944432	50944432	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr10:50944432C>T	uc009xog.3	-	19	2840	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	OGDHL_uc001jie.3_Missense_Mutation_p.E909K|OGDHL_uc010qgt.2_Missense_Mutation_p.E852K|OGDHL_uc010qgu.2_Missense_Mutation_p.E700K	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	909					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCACTTTCTCCTCCAGGTCC	0.632000														11			59		0	0	0.003610	0	0
DNAJC11	55735	broad.mit.edu	37	1	6738476	6738476	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr1:6738476C>T	uc001aof.2	-	2	360	c.254G>A	c.(253-255)gGa>gAa	p.G85E	DNAJC11_uc001aog.2_Missense_Mutation_p.G85E|DNAJC11_uc010nzu.1_Intron	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	85					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CATTTCCAGTCCTCTCTTCCC	0.393000														48			14		0	0	0.004007	0	0
NWD1	284434	broad.mit.edu	37	19	16872877	16872877	+	Silent	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr19:16872877G>A	uc002neu.4	+	7	2483	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	NWD1_uc002net.4_Silent_p.G552G|NWD1_uc002nev.4_Silent_p.G481G|NWD1_uc021uqg.1_Silent_p.G552G	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	687							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTTCTCAGGGACCTGGAGCC	0.592000														46			12		0	0	0.001368	0	0
BBS12	166379	broad.mit.edu	37	4	123663113	123663113	+	Silent	SNP	C	T	T	rs150546366		TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr4:123663113C>T	uc021xrm.1	+	2	447	c.66C>T	c.(64-66)ttC>ttT	p.F22F	BBS12_uc003ieu.3_Silent_p.F22F|BBS12_uc021xrn.1_Silent_p.F22F	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	22					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTTCATCATTCGCGGAAACAG	0.358000									Bardet-Biedl syndrome					30			13		0	0	0.002450	0	0
PMEL	6490	broad.mit.edu	37	12	56349584	56349584	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr12:56349584A>G	uc001sir.3	-	7	2198	c.1535T>C	c.(1534-1536)cTg>cCg	p.L512P	PMEL_uc001siq.3_Missense_Mutation_p.L512P|PMEL_uc010spx.2_Missense_Mutation_p.L426P|PMEL_uc001sip.3_Missense_Mutation_p.L512P	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	512					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGACACAGTCAGCTCAAATGC	0.522000											OREG0021914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			20		0	0	0.002299	0	0
PDE12	201626	broad.mit.edu	37	3	57542432	57542432	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:57542432C>T	uc003diw.4	+	0	452	c.326C>T	c.(325-327)tCa>tTa	p.S109L	PDE12_uc003div.3_Missense_Mutation_p.S109L	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	109							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCGGCCTGTTCAGGGCCGGGG	0.657000														24			6		0	0	0.003080	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202211358	202211358	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:202211358T>A	uc010ftg.3	-	4	719	c.275A>T	c.(274-276)aAt>aTt	p.N92I	ALS2CR12_uc002uya.4_Missense_Mutation_p.N92I|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	92					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CTGTTCCCGATTCCGAACAAG	0.453000														85			29		0	0	0.005524	0	0
CASC3	22794	broad.mit.edu	37	17	38323820	38323820	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:38323820C>T	uc010cwt.1	+	8	1901	c.1606C>T	c.(1606-1608)Cct>Tct	p.P536S	CASC3_uc002hue.3_Missense_Mutation_p.P536S	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	536	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCCCCGCCCCTCCAGTGCA	0.502000														50			9		0	0	0.004990	0	0
LOC285033	285033	broad.mit.edu	37	2	96906417	96906417	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr2:96906417C>T	uc002svp.1	+	0	967	c.356C>T	c.(355-357)cCc>cTc	p.P119L	LOC285033_uc002svn.2_Non-coding_Transcript	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN	Homo sapiens uncharacterized LOC285033 (LOC285033), mRNA.	119																	TCCTTCCTTCCCTGCAGTTGG	0.552000														40			14		0	0	0.003163	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410864	59410864	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr8:59410864G>A	uc003xtm.4	-	1	308	c.245C>T	c.(244-246)cCc>cTc	p.P82L		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	82					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTATGACAAGGGATTTGTGAT	0.368000									Neonatal Giant Cell Hepatitis					56			52		0	0	0.003610	0	0
LPCAT2	54947	broad.mit.edu	37	16	55608593	55608593	+	Silent	SNP	C	T	T			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:55608593C>T	uc002eie.4	+	11	1447	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V	LPCAT2_uc002eic.3_Silent_p.V152V	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	422	EF-hand 1.				cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCCTGGCTGTCTTGTGCAACC	0.468000														57			24		0	0	0.001786	0	0
ZNF621	285268	broad.mit.edu	37	3	40571799	40571802	+	Frame_Shift_Del	DEL	TCAG	-	-			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr3:40571799_40571802delTCAG	uc003ckm.2	+	3	467_470	c.251_254delTCAG	c.(250-255)atcagtfs	p.I84fs	ZNF621_uc003ckn.2_Frame_Shift_Del_p.I84fs|ZNF621_uc003cko.2_Frame_Shift_Del_p.I49fs|ZNF621_uc011aze.1_Frame_Shift_Del_p.I76fs	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CTGAGAGGCATCAGTCAAGGTGAG	0.505													---	64	---	---	17	---					
DACH1	1602	broad.mit.edu	37	13	72053340	72053340	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr13:72053340delT	uc021rkj.1	-	7	2260	c.1837delA	c.(1837-1839)acafs	p.T613fs	DACH1_uc021rkk.1_Frame_Shift_Del_p.T465fs|DACH1_uc021rkl.1_Frame_Shift_Del_p.T411fs	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	663					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)		TTCTCAAGTGTTTCCCTTAGT	0.333													---	55	---	---	14	---					
NKD1	85407	broad.mit.edu	37	16	50666299	50666300	+	Frame_Shift_Ins	INS	-	CACGT	CACGT			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr16:50666299_50666300insCACGT	uc002egg.2	+	8	1027_1028	c.803_804insCACGT	c.(802-804)tacfs	p.Y268fs		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	268					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ATAGAAAACTACACGTCCCAAT	0.599													---	28	---	---	8	---					
PIPOX	51268	broad.mit.edu	37	17	27380135	27380135	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr17:27380135delC	uc002hdr.1	+	2	787	c.461delC	c.(460-462)gccfs	p.A154fs		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	154					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCATATAAGGCCCTCAGAGCC	0.562													---	48	---	---	18	---					
HNF4A	3172	broad.mit.edu	37	20	43052773	43052775	+	In_Frame_Del	DEL	GCT	-	-			TCGA-FS-A1ZC-06A-11D-A197-08	TCGA-FS-A1ZC-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92bfdfbe-fc10-4d05-8787-e5688d2f1b57	9818da38-0e38-4fcd-bb2d-99f47822d7c0	g.chr20:43052773_43052775delGCT	uc002xma.3	+	7	1097_1099	c.1008_1010delGCT	c.(1006-1011)gagctg>gag	p.L341del	HNF4A_uc002xlt.3_In_Frame_Del_p.L319del|HNF4A_uc002xlu.3_In_Frame_Del_p.L319del|HNF4A_uc002xlv.3_In_Frame_Del_p.L319del|HNF4A_uc002xly.3_In_Frame_Del_p.L341del|HNF4A_uc010ggq.3_In_Frame_Del_p.L334del|HNF4A_uc002xlz.3_In_Frame_Del_p.L341del	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	341					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTTTGGAGAGCTGCTGCTGCTG	0.576													---	369	---	---	10	---