Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
APOB	338	broad.mit.edu	37	2	21228981	21228981	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:21228981C>T	ENST00000233242.1	-	26	10886	c.10759G>A	c.(10759-10761)Gcc>Acc	p.A3587T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3587					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCAGGGTGGCTTTGCTTGTA	0.502000													14	93					0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357982	46357982	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:46357982A>G	ENST00000400405.2	-	2	452	c.346T>C	c.(346-348)Tgg>Cgg	p.W116R		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	116					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CGGCCTTCCCACTGGCAGGAG	0.667000													9	96					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11022970	11022970	+	Silent	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:11022970C>G	ENST00000304623.8	-	17	3099	c.2910G>C	c.(2908-2910)gtG>gtC	p.V970V	CTNND2_ENST00000511377.1_Silent_p.V879V|CTNND2_ENST00000503622.1_Silent_p.V633V|CTNND2_ENST00000458100.2_Silent_p.V537V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.V912V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	970					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTGGTAATCACTTCGTGCA	0.517000													8	152					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692180	69692180	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:69692180G>A	ENST00000265403.7	+	4	1079	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R267Q	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	351					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTCAATACTCGACTGTACAAG	0.383000													6	170					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3654462	3654462	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:3654462G>A	ENST00000356518.2	-	9	1076	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	ADAM33_ENST00000379861.4_Missense_Mutation_p.L279F|ADAM33_ENST00000350009.2_Missense_Mutation_p.L279F	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	279	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AAGGCCCAGAGCGTGGCGTTG	0.721000													5	7					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462044	5462044	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:5462044G>C	ENST00000296564.7	+	13	2819	c.2597G>C	c.(2596-2598)aGa>aCa	p.R866T		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	866										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACAGACAAGACCTGAAAAG	0.418000													48	111					0	0	1	0	0
RCHY1	25898	broad.mit.edu	37	4	76439452	76439452	+	Splice_Site	SNP	T	T	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:76439452T>G	ENST00000512706.1	-	1	188	c.24_splice	c.e1+1	p.E8_splice	RCHY1_ENST00000514021.1_Intron|RCHY1_ENST00000451788.1_Silent_p.R15R|RCHY1_ENST00000324439.5_Silent_p.R15R|RCHY1_ENST00000513257.1_Silent_p.R15R|RCHY1_ENST00000380840.2_Silent_p.R15R			Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	30					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCCGCTGACCTCGCTCTTGAC	0.617000													6	66					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172305291	172305291	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:172305291T>C	ENST00000375255.3	+	4	749	c.422T>C	c.(421-423)cTt>cCt	p.L141P	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.L141P	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	141						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGAAAAATCCTTGAGAAAATA	0.333000													66	229					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													6	117					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140871102	140871102	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:140871102G>A	ENST00000252087.1	+	1	2295	c.2295G>A	c.(2293-2295)cgG>cgA	p.R765R	PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		765					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)			TGACGCTGCGGCCCACAGACT	0.617000													18	52					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156723768	156723768	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:156723768T>C	ENST00000347377.6	+	5	804	c.373T>C	c.(373-375)Ttc>Ctc	p.F125L	CYFIP2_ENST00000541131.1_Missense_Mutation_p.F50L|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Missense_Mutation_p.F99L|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.F125L|CYFIP2_ENST00000318218.6_Missense_Mutation_p.F125L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	125					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCATGAAGTTCATGTATTT	0.517000													28	52					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136979	66136979	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:66136979C>T	ENST00000357440.2	-	3	364	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	SLC29A2_ENST00000311161.7_Missense_Mutation_p.A46T|SLC29A2_ENST00000546034.1_Missense_Mutation_p.A46T|SLC29A2_ENST00000544554.1_Missense_Mutation_p.A46T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	46					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CTGTTGCCGGCCCCGGCCAGT	0.642000													33	550					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153184627	153184627	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:153184627G>A	ENST00000370028.3	-	7	969	c.912C>T	c.(910-912)gaC>gaT	p.D304D	ARHGAP4_ENST00000370016.1_Silent_p.D243D|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Silent_p.D264D|ARHGAP4_ENST00000537206.1_Silent_p.D241D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	264					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCAAGACGTCATGCAGGT	0.567000													52	79					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127622436	127622436	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:127622436C>T	ENST00000508053.1	-	61	7960	c.6986G>A	c.(6985-6987)cGa>cAa	p.R2329Q	FBN2_ENST00000262464.4_Missense_Mutation_p.R2329Q			P35556	FBN2_HUMAN	fibrillin 2	2329	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R2329Q(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCGGGCCTTCGGGCCATTCC	0.512000													7	51					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470230	10470230	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:10470230C>T	ENST00000382483.3	-	4	1601	c.1378G>A	c.(1378-1380)Ggc>Agc	p.G460S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	460					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)		TCGGGGAGGCCGGTGCTGGAG	0.726000													5	68					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134896129	134896129	+	Silent	SNP	T	T	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:134896129T>G	ENST00000607359.1	+	6	1215	c.1215T>G	c.(1213-1215)tcT>tcG	p.S405S				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGAAGGTATCTGAGGCCCAGC	0.582000													4	27					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105359965	105359965	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:105359965G>A	ENST00000453495.1	+	15	4480	c.4252G>A	c.(4252-4254)Gcc>Acc	p.A1418T	CEP170B_ENST00000418279.1_Missense_Mutation_p.A1312T|CEP170B_ENST00000414716.3_Missense_Mutation_p.A1382T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A1347T					centrosomal protein 170B																		CTGTGAGGACGCCCTGGCCAA	0.677000													3	24					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51914710	51914710	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:51914710G>A	ENST00000251076.5	-	1	320	c.33C>T	c.(31-33)gtC>gtT	p.V11V	DMXL2_ENST00000449909.3_Silent_p.V11V|DMXL2_ENST00000543779.2_Silent_p.V11V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	11						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTCCAGGGTTGACAGCTCCGG	0.677000													3	7					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54485394	54485394	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:54485394C>T	ENST00000270458.2	+	4	672	c.569C>T	c.(568-570)cCg>cTg	p.P190L		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	190					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|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GAGCCGGGCCCGAAGCGGGAC	0.657000													6	26					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840240	1840240	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:1840240G>A	ENST00000331238.5	-	2	894	c.876C>T	c.(874-876)gaC>gaT	p.D292D		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	292	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GCAGCTTCAGGTCCTGGCCGT	0.692000													9	25					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224886	45224886	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:45224886A>T	ENST00000279027.4	-	5	722	c.704T>A	c.(703-705)cTc>cAc	p.L235H	SLC13A3_ENST00000495082.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L188H|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000413164.2_Missense_Mutation_p.S213T|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L188H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.S213T	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	235						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)	GATGGAGATGAGGAAGCCCTT	0.567000													26	73					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8789598	8789598	+	Silent	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:8789598G>T	ENST00000447110.1	-	14	2200	c.2076C>A	c.(2074-2076)atC>atA	p.I692I	PIK3R5_ENST00000581552.1_Silent_p.I692I|PIK3R5_ENST00000584803.1_Silent_p.I691I	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	692	Interaction with G beta gamma proteins (By similarity).				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						CCAAGGAGTGGATGAAGATCT	0.607000													15	34					1.3612e-06	1.44329e-06	1	1	0
ZFAT	57623	broad.mit.edu	37	8	135614102	135614102	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:135614102G>A	ENST00000520727.1	-	7	2123	c.1824C>T	c.(1822-1824)caC>caT	p.H608H	ZFAT_ENST00000377838.3_Silent_p.H620H|ZFAT_ENST00000523399.1_Silent_p.H558H|ZFAT_ENST00000520356.1_Silent_p.H608H|ZFAT_ENST00000520214.1_Silent_p.H608H|ZFAT_ENST00000429442.2_Silent_p.H608H	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGAGCTTCTGTGCTGCATGT	0.537000													37	118					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059008	248059008	+	Silent	SNP	A	A	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:248059008A>C	ENST00000537741.1	+	3	377	c.120A>C	c.(118-120)gtA>gtC	p.V40V	OR2W3_ENST00000360358.3_Silent_p.V40V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TGACCCTCGTAGGCAACACCA	0.572000													91	167					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77386244	77386244	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:77386244C>T	ENST00000308488.6	-	14	3701	c.3399G>A	c.(3397-3399)ccG>ccA	p.P1133P	RSF1_ENST00000480887.1_Silent_p.P881P|RSF1_ENST00000360355.2_Silent_p.P1102P			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1133					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			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)			CATTAGATGGCGGATCTTCTT	0.448000													38	36					0	0	1	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161146958	161146958	+	RNA	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:161146958T>C	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						AGCATCGTAATCAGGAGCCAG	0.403000													4	206					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154996991	154996991	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:154996991G>A	ENST00000392825.3	+	4	851	c.284G>A	c.(283-285)aGa>aAa	p.R95K	GALNT13_ENST00000409237.1_Missense_Mutation_p.R95K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	95						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCCCTTAATAGAAGTCTGCCA	0.328000													24	97					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	67					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152832197	152832197	+	Silent	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:152832197G>T	ENST00000367255.5	-	7	952	c.351C>A	c.(349-351)ggC>ggA	p.G117G	SYNE1_ENST00000448038.1_Silent_p.G124G|SYNE1_ENST00000423061.1_Silent_p.G124G|SYNE1_ENST00000341594.5_Silent_p.G117G|SYNE1_ENST00000367248.3_Silent_p.G124G|SYNE1_ENST00000265368.4_Silent_p.G117G|SYNE1_ENST00000413186.2_Silent_p.G117G|SYNE1_ENST00000367253.4_Silent_p.G117G|SYNE1_ENST00000466159.2_Silent_p.G117G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	117	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	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)		TTGAGGGTCGGCCATCAGCTA	0.348000										HNSCC(10;0.0054)			5	186					0.0215528	0.021759	1	1	0
INSIG1	3638	broad.mit.edu	37	7	155093399	155093399	+	Splice_Site	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:155093399C>T	ENST00000340368.4	+	3	747	c.537_splice	c.e3+1	p.A179_splice	INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	179					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACGCCAGTGCTGTATCCTTA	0.403000													30	163					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233953	43233953	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:43233953T>C	ENST00000327495.5	-	4	1149	c.965A>G	c.(964-966)tAc>tGc	p.Y322C	PSG3_ENST00000595140.1_Missense_Mutation_p.Y322C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	322	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTGACTGGGTAACTGCGGAT	0.493000													59	168					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74689354	74689354	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:74689354T>G	ENST00000233616.4	-	4	1724	c.1562A>C	c.(1561-1563)cAt>cCt	p.H521P	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.H415P	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	521					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTCTAGCATATGGGCTACAGG	0.602000													11	94					0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7964485	7964485	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:7964485T>G	ENST00000246024.2	-	7	850	c.635A>C	c.(634-636)gAa>gCa	p.E212A		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	212					cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						ATAGAAACATTCTGATATTAC	0.388000													21	58					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			25	84					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176637097	176637097	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:176637097G>A	ENST00000439151.2	+	5	1742	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	NSD1_ENST00000354179.4_Missense_Mutation_p.G297E|NSD1_ENST00000361032.4_Missense_Mutation_p.G463E|NSD1_ENST00000347982.4_Missense_Mutation_p.G297E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	566					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)		ACTGCCCCAGGAAGTTTTCTG	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			11	73					0	0	1	0	0
C2CD4B	388125	broad.mit.edu	37	15	62456205	62456205	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:62456205C>A	ENST00000380392.3	-	2	1107	c.979G>T	c.(979-981)Gac>Tac	p.D327Y		NM_001007595.2	NP_001007596.2	A6NLJ0	C2C4B_HUMAN	C2 calcium-dependent domain containing 4B	327	C2.					nucleus				skin(1)	1						CGCACCTCGTCTTCCGAGAGG	0.726000													6	15					8.12818e-05	8.53257e-05	1	1	0
CC2D2A	57545	broad.mit.edu	37	4	15529187	15529187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:15529187C>T	ENST00000424120.1	+	12	1521	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.R374*|CC2D2A_ENST00000503292.1_Nonsense_Mutation_p.R423*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.R423*			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	423					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CTGTTTTAGCCGAGAGCATGT	0.443000													7	22					0	0	1	0	0
FKBP14	55033	broad.mit.edu	37	7	30066235	30066235	+	Translation_Start_Site	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:30066235G>T	ENST00000222803.5	-	0	65					NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa						protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						GACAAGTTCAGGACTCCCCCT	0.473000													5	9					0.014758	0.0149708	1	1	0
PCDHB13	56123	broad.mit.edu	37	5	140594564	140594564	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:140594564G>T	ENST00000341948.4	+	1	1056	c.869G>T	c.(868-870)gGc>gTc	p.G290V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		290	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAGATTGGCAAAACCTTT	0.418000													64	104					1.31171e-36	1.52071e-36	1	1	0
ZNF525	170958	broad.mit.edu	37	19	53884803	53884803	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:53884803A>T	ENST00000467003.1	+	4	1064	c.863A>T	c.(862-864)gAg>gTg	p.E288V	ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.E324V|ZNF525_ENST00000355326.3_Missense_Mutation_p.E42V					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						CATACTGGAGAGAAACCACAT	0.403000													25	72					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43242949	43242949	+	Silent	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:43242949G>T	ENST00000327495.5	-	2	541	c.357C>A	c.(355-357)tcC>tcA	p.S119S	PSG3_ENST00000595140.1_Silent_p.S119S|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	119	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTAAGGTGTAGGATCCTGCGT	0.478000													9	588					5.4927e-09	5.91306e-09	1	1	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078112	90078112	+	RNA	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:90078112G>A	ENST00000390270.2	+	0	246																											CAGAGTGTTAGCAGCAGCTAC	0.587000													13	139					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919351	142919351	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:142919351G>A	ENST00000408947.3	+	1	222	c.180G>A	c.(178-180)atG>atA	p.M60I	AC073342.1_ENST00000595842.1_Missense_Mutation_p.H4Y	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	60					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					ACCGCATTATGTTGATGCTGA	0.488000													37	85					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76333615	76333615	+	Splice_Site	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:76333615G>A	ENST00000370014.3	+	3	765		c.e3-1		SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000447266.2_Splice_Site	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCTGTGTAGTGGGACAAAT	0.333000													12	52					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94485948	94485948	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:94485948G>A	ENST00000375708.3	-	9	3026	c.2828C>T	c.(2827-2829)gCt>gTt	p.A943V	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	943					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCCACTCAAGCTTCCAGCTG	0.612000													15	79					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20833114	20833114	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:20833114C>G	ENST00000359062.3	+	16	3375	c.3335C>G	c.(3334-3336)tCt>tGt	p.S1112C	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1112					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CAGTCGCACTCTTCAGAACAG	0.478000													25	145					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950061	27950061	+	Silent	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:27950061G>T	ENST00000379992.2	-	6	1058	c.609C>A	c.(607-609)ctC>ctA	p.L203L	LINGO2_ENST00000308675.3_Silent_p.L203L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	203						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCAGGCTGATGAGGCTGCGGA	0.478000													19	44					2.35188e-11	2.59815e-11	1	1	0
SRRM4	84530	broad.mit.edu	37	12	119583316	119583316	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:119583316C>A	ENST00000267260.4	+	9	1290	c.902C>A	c.(901-903)tCa>tAa	p.S301*		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	301	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAAACCAGCTCAGCCAGGTCT	0.612000													9	28					0.000274275	0.000285084	1	1	0
RPTN	126638	broad.mit.edu	37	1	152128693	152128693	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:152128693G>A	ENST00000316073.3	-	3	946	c.882C>T	c.(880-882)caC>caT	p.H294H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	294	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						TCTGACCGTAGTGGGAACTCT	0.498000													187	548					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47663601	47663601	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr21:47663601A>C	ENST00000397708.1	-	25	5328	c.5074T>G	c.(5074-5076)Tac>Gac	p.Y1692D	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Y1692D|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1692					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGGAGGCGTACTGGACAACC	0.547000													11	51					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65350190	65350190	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:65350190G>T	ENST00000284037.5	+	21	3433	c.3044G>T	c.(3043-3045)aGc>aTc	p.S1015I	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1011I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1015I|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1015I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1015					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGATCAGAGAGCACAGAAAAT	0.398000													19	37					1.33834e-09	1.44815e-09	1	1	0
RBM14	10432	broad.mit.edu	37	11	66392848	66392848	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:66392848G>A	ENST00000310137.4	+	2	1640	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	501	Ala-rich.				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	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		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						CTATGGTGCCGCAGCAGCCTA	0.622000													5	304					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11422597	11422597	+	RNA	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:11422597G>A	ENST00000381842.3	-	0	44				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			AGCAGAATCAGTAGCATCTTG	0.542000													43	60					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5934609	5934609	+	Silent	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:5934609G>T	ENST00000378156.4	-	22	3418	c.3153C>A	c.(3151-3153)ctC>ctA	p.L1051L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1051					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCAGGTAGAGCTGGGGGG	0.657000													5	17					0.184627	0.185506	1	1	0
C9orf3	84909	broad.mit.edu	37	9	97718211	97718211	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:97718211C>T	ENST00000375315.2	+	8	1786	c.1786C>T	c.(1786-1788)Ctt>Ttt	p.L596F	C9orf3_ENST00000297979.5_Missense_Mutation_p.L497F	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	596					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TCTTCGGTTTCTTGCCAAAAG	0.373000													39	132					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397154	125397154	+	Silent	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:125397154C>G	ENST00000536769.1	-	1	2740	c.1164G>C	c.(1162-1164)ctG>ctC	p.L388L	UBC_ENST00000546120.1_Silent_p.L312L|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L388L			P0CG48	UBC_HUMAN	ubiquitin C	388	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTTACCAGTCAGGGTCTTCA	0.527000													13	298					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139611102	139611102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:139611102C>A	ENST00000303045.6	-	61	4671	c.4225G>T	c.(4225-4227)Gga>Tga	p.G1409*	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonsense_Mutation_p.G1389*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1409	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGCCTTTTCCACCAGGAGGT	0.577000										HNSCC(7;0.00092)			17	73					1.99824e-07	2.12943e-07	1	1	0
PCCA	5095	broad.mit.edu	37	13	100962097	100962097	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:100962097A>G	ENST00000376285.1	+	16	1402	c.1364A>G	c.(1363-1365)tAt>tGt	p.Y455C	PCCA_ENST00000376279.3_Missense_Mutation_p.Y455C|PCCA_ENST00000376286.4_Missense_Mutation_p.Y429C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	455	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CTAATCACATATGGCTCTGAT	0.289000													20	51					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129835643	129835643	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:129835643G>A	ENST00000421865.2	+	64	9163	c.9114G>A	c.(9112-9114)gaG>gaA	p.E3038E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3038	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACCGCATTGAGCTCACAGTCG	0.517000													13	107					0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67069049	67069049	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:67069049G>T	ENST00000447274.2	+	13	2353	c.1178G>T	c.(1177-1179)cGg>cTg	p.R393L	ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R130L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R393L|ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R480L|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R393L			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	393										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGCCCCTCCGGGACGAGGAC	0.657000													5	236					0.014758	0.0149708	1	1	0
LGI1	9211	broad.mit.edu	37	10	95557169	95557169	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:95557169A>G	ENST00000371418.4	+	8	1543	c.1283A>G	c.(1282-1284)aAc>aGc	p.N428S	LGI1_ENST00000542308.1_Missense_Mutation_p.N380S|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	428					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GACATTCCTAACATGGAGGAT	0.413000													11	105					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38523656	38523656	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:38523656C>G	ENST00000263409.4	-	5	588	c.426G>C	c.(424-426)ttG>ttC	p.L142F	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.L142F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	142					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAGACAAATTCAAGATCTCTG	0.343000			T	PLAG1	salivary adenoma								62	109					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171693381	171693381	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:171693381C>T	ENST00000358196.3	+	6	1176	c.626C>T	c.(625-627)gCc>gTc	p.A209V	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.A209V|GAD1_ENST00000344257.5_Missense_Mutation_p.A209V	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	209					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACATCAACGGCCAATACCAAC	0.403000													39	79					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726627	63726627	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:63726627C>G	ENST00000421025.1	+	5	885	c.616C>G	c.(616-618)Cat>Gat	p.H206D	ZNF679_ENST00000255746.4_Missense_Mutation_p.H206D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCAGATAATTCATACTAGGGA	0.348000													4	9					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55593237	55593237	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:55593237G>A	ENST00000201647.6	+	9	927	c.871G>A	c.(871-873)Ggc>Agc	p.G291S	EPS8L1_ENST00000245618.5_Missense_Mutation_p.G164S|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000586329.1_Missense_Mutation_p.G273S|EPS8L1_ENST00000540810.1_Missense_Mutation_p.G227S|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	291						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCGGGAACGCGGCCGCAGGAG	0.672000													10	25					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209188978	209188978	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:209188978G>T	ENST00000264380.4	+	18	2461	c.2303G>T	c.(2302-2304)gGc>gTc	p.G768V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	768					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGGAACATGGCATTACTTTG	0.348000													59	160					4.09106e-26	4.66602e-26	1	1	0
LCA5L	150082	broad.mit.edu	37	21	40778134	40778134	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr21:40778134C>T	ENST00000358268.2	-	10	2215	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	LCA5L_ENST00000380671.2_Missense_Mutation_p.E563K|LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.E563K			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	563										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TCCATTTCCTCTCTGTTACTG	0.463000													13	107					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20929552	20929552	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:20929552G>T	ENST00000380249.1	+	29	3638	c.3274G>T	c.(3274-3276)Gct>Tct	p.A1092S	FOCAD_ENST00000605086.1_Missense_Mutation_p.A528S|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1092S	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1092						integral to membrane	binding										CATGGGCCTTGCTTTAGGGAT	0.423000													36	88					5.04308e-16	5.66005e-16	1	1	0
COL18A1	80781	broad.mit.edu	37	21	46930061	46930061	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr21:46930061G>A	ENST00000359759.4	+	39	4845	c.4824G>A	c.(4822-4824)gcG>gcA	p.A1608A	COL18A1_ENST00000400337.2_Silent_p.A1193A|COL18A1_ENST00000355480.5_Silent_p.A1373A|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1608	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCAGCAGGCGCGGGCCGTGG	0.736000													7	8					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79281235	79281235	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:79281235C>A	ENST00000442340.1	+	5	722	c.232C>A	c.(232-234)Cgc>Agc	p.R78S	TBX22_ENST00000373294.5_Missense_Mutation_p.R198S|TBX22_ENST00000373291.1_Missense_Mutation_p.R78S|TBX22_ENST00000373296.3_Missense_Mutation_p.R198S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	198					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGCTTTGATCGCATGAAACT	0.527000													10	12					0.000442599	0.000457787	1	1	0
PAX5	5079	broad.mit.edu	37	9	36882055	36882055	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:36882055G>C	ENST00000358127.4	-	8	1032	c.958C>G	c.(958-960)Ccc>Gcc	p.P320A	PAX5_ENST00000522003.1_Missense_Mutation_p.P212A|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.P277A|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.P320A|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P277A|PAX5_ENST00000523145.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	320					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CCAGCGGGGGGGACGTGTGGA	0.647000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								13	17					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117149100	117149100	+	Silent	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:117149100A>G	ENST00000003084.6	+	3	309	c.177A>G	c.(175-177)agA>agG	p.R59R	CFTR_ENST00000454343.1_Silent_p.R59R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	59					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AATGGGATAGAGAGCTGGCTT	0.343000									Cystic Fibrosis				5	155					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207825638	207825638	+	Silent	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:207825638C>A	ENST00000272852.3	+	6	592	c.546C>A	c.(544-546)ctC>ctA	p.L182L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	182					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GGACGGATCTCAATCGAAATT	0.388000													52	180					3.84483e-29	4.40902e-29	1	1	0
TYRO3	7301	broad.mit.edu	37	15	41870397	41870397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:41870397C>T	ENST00000263798.3	+	19	2820	c.2596C>T	c.(2596-2598)Cag>Tag	p.Q866*	TYRO3_ENST00000559066.1_Nonsense_Mutation_p.Q821*	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	866						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCAGAGCACCAGCCAGAGAG	0.632000													12	61					0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72048493	72048493	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:72048493G>A	ENST00000572887.1	+	3	533	c.356G>A	c.(355-357)aGt>aAt	p.S119N	DHODH_ENST00000219240.4_Missense_Mutation_p.S119N|DHODH_ENST00000573922.1_3'UTR			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	119					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GAGATAGGAAGTGTGACTCCA	0.493000													19	55					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102545	168102545	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:168102545T>C	ENST00000409195.1	+	9	4732	c.4643T>C	c.(4642-4644)aTt>aCt	p.I1548T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I1548T|XIRP2_ENST00000409273.1_Missense_Mutation_p.I1326T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1373					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAGAAATTATTGGCAAGAGC	0.368000													9	112					0	0	1	0	0
MTG2	26164	broad.mit.edu	37	20	60776031	60776031	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:60776031G>A	ENST00000370823.3	+	7	1137	c.1119G>A	c.(1117-1119)ttG>ttA	p.L373L	MTG2_ENST00000436421.2_Silent_p.L215L|MTG2_ENST00000536470.1_Silent_p.L145L	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		TGTCGGCGTTGACCGGCGAGA	0.627000													8	79					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170598008	170598008	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:170598008A>G	ENST00000392647.2	+	3	1571	c.1327A>G	c.(1327-1329)Atc>Gtc	p.I443V	KLHL23_ENST00000272797.4_Missense_Mutation_p.I443V|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	443										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CAATTCCGATATCAACGAATG	0.428000													37	133					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47559834	47559834	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:47559834C>T	ENST00000273859.3	+	12	2247	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	660					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTGAGCAGACTCCCTCTCTT	0.517000													29	108					0	0	1	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246481	43246481	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:43246481G>A	ENST00000307275.3	+	4	602	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E56K|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E56K	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	56					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						CTCAGAGGATGAAGATCTTGC	0.672000													52	150					0	0	1	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28121663	28121663	+	Silent	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:28121663A>G	ENST00000330236.6	+	6	1789	c.1605A>G	c.(1603-1605)caA>caG	p.Q535Q	ZKSCAN8_ENST00000457389.2_Silent_p.Q535Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		GTCTCATTCAACACCTGAGAA	0.433000													9	89					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	688598	688598	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr18:688598T>C	ENST00000383578.3	-	8	587	c.383A>G	c.(382-384)cAg>cGg	p.Q128R	ENOSF1_ENST00000340116.7_Missense_Mutation_p.Q231R|ENOSF1_ENST00000251101.7_Missense_Mutation_p.Q210R|ENOSF1_ENST00000580982.1_Missense_Mutation_p.Q134R	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	210					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CTTCAGCGCCTGGGCACAGAG	0.562000													3	43					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043419	20043419	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:20043419T>C	ENST00000570682.1	-	2	1000	c.700A>G	c.(700-702)Acc>Gcc	p.T234A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	234						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AAGATGGAGGTAATGGTGAAC	0.522000													30	97					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71164411	71164411	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:71164411G>A	ENST00000319023.2	+	1	257	c.69G>A	c.(67-69)ttG>ttA	p.L23L		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	23	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGGCAATTTGCAAAGAATTT	0.672000													28	30					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74764516	74764516	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:74764516G>A	ENST00000358399.3	+	1	134	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	GDA_ENST00000376989.3_5'UTR|GDA_ENST00000376986.1_5'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.R14Q|GDA_ENST00000545168.1_Intron	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	14					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CACATCTTCCGAGGGACGTTC	0.701000													10	24					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876142	148876142	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:148876142C>G	ENST00000420008.2	+	6	1453	c.665C>G	c.(664-666)gCc>gGc	p.A222G	ZNF398_ENST00000426851.2_Missense_Mutation_p.A222G|ZNF398_ENST00000483892.1_Missense_Mutation_p.A222G|ZNF398_ENST00000475153.1_Missense_Mutation_p.A393G|ZNF398_ENST00000540950.1_Missense_Mutation_p.A398G|ZNF398_ENST00000335901.4_Missense_Mutation_p.A222G|ZNF398_ENST00000491174.1_Missense_Mutation_p.A222G	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	393					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)			CAGGACCATGCCAGCGAGACA	0.577000													38	141					0	0	1	0	0
TBC1D3C	414060	broad.mit.edu	37	17	34587271	34587271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:34587271G>A	ENST00000336331.5	-	6	1237	c.484C>T	c.(484-486)Cga>Tga	p.R162*	TBC1D3C_ENST00000308078.7_Nonsense_Mutation_p.R162*|TBC1D3C_ENST00000457979.3_Nonsense_Mutation_p.R162*|TBC1D3H_ENST00000400684.4_Intron|TBC1D3C_ENST00000451448.2_Nonsense_Mutation_p.R162*|TBC1D3H_ENST00000535446.1_Intron			Q6IPX1	TBC3C_HUMAN	TBC1 domain family, member 3C	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			kidney(5)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.557000													126	699					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5086290	5086290	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:5086290C>G	ENST00000399604.4	-	1	1402	c.1262G>C	c.(1261-1263)aGa>aCa	p.R421T	ZNF594_ENST00000575779.1_Missense_Mutation_p.R421T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R421I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTATGATGTCTCAGAAGGTC	0.403000													85	271					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8085846	8085846	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr18:8085846A>T	ENST00000332175.8	+	10	2766	c.1729A>T	c.(1729-1731)Aac>Tac	p.N577Y	PTPRM_ENST00000444013.1_Missense_Mutation_p.N364Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.N515Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.N577Y|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.N577Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	577	Fibronectin type-III 3.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCCAGCAACAAACCAGTTCAC	0.418000													4	107					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897038	175897038	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:175897038G>A	ENST00000359240.3	+	5	1032	c.362G>A	c.(361-363)gGg>gAg	p.G121E	ADAM29_ENST00000445694.1_Missense_Mutation_p.G121E|ADAM29_ENST00000514159.1_Missense_Mutation_p.G121E|ADAM29_ENST00000404450.4_Missense_Mutation_p.G121E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	121					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)		ACCTGTTTTGGGGGTTTTCAA	0.428000													57	133					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165555991	165555991	+	Silent	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:165555991T>C	ENST00000375458.2	-	10	1700	c.1479A>G	c.(1477-1479)gtA>gtG	p.V493V	COBLL1_ENST00000194871.6_Silent_p.V598V|COBLL1_ENST00000342193.4_Silent_p.V532V|COBLL1_ENST00000409184.3_Silent_p.V531V|COBLL1_ENST00000392717.2_Silent_p.V570V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	570										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						TTGTATCATATACTACACTGT	0.373000													48	164					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902406	23902406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:23902406G>A	ENST00000355349.3	-	4	394	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	78	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGTTCTGCTGCATCACCTGG	0.587000													28	83					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													4	82					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80744748	80744748	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:80744748A>T	ENST00000509894.1	+	15	2487	c.1658A>T	c.(1657-1659)tAt>tTt	p.Y553F	TTK_ENST00000369798.2_Missense_Mutation_p.Y554F|TTK_ENST00000230510.3_Missense_Mutation_p.Y553F			P33981	TTK_HUMAN	TTK protein kinase	554	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GCTATAAAATATGTGAACTTA	0.308000													37	132					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5275545	5275545	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:5275545G>A	ENST00000380259.2	-	7	1532	c.292C>T	c.(292-294)Cat>Tat	p.H98Y	HBG2_ENST00000336906.4_Missense_Mutation_p.H98Y|HBG2_ENST00000380252.1_Missense_Mutation_p.H88Y					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCCACATGCAGCTTGTCA	0.498000													29	256					0	0	1	0	0
PROCA1	147011	broad.mit.edu	37	17	27031202	27031202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:27031202C>T	ENST00000581289.1	-	2	206	c.120G>A	c.(118-120)tgG>tgA	p.W40*	PROCA1_ENST00000301039.2_Missense_Mutation_p.A129T|PROCA1_ENST00000439862.3_Missense_Mutation_p.A131T|PROCA1_ENST00000579650.1_5'UTR			Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	0					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TGGATCACTGCCACAGAGACA	0.562000													36	79					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530982	50530982	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:50530982C>A	ENST00000374144.3	+	3	680	c.392C>A	c.(391-393)tCc>tAc	p.S131Y	C10orf71_ENST00000323868.4_Missense_Mutation_p.S131Y			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	131										endometrium(1)	1						GTGCCAGTTTCCGGCCTAAGG	0.537000													14	92					0.00316338	0.00325597	1	1	0
CDK5	1020	broad.mit.edu	37	7	150754047	150754047	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:150754047C>T	ENST00000485972.1	-	3	823	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	CDK5_ENST00000297518.4_Missense_Mutation_p.A48T	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	48	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	p.A48T(1)		central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCCCGGAGGGCGGAACTCGGC	0.662000													18	58					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846140	18846140	+	RNA	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:18846140T>C	ENST00000412938.1	+	0	3498																											TAGGGCACCTTGGACCTCTCT	0.617000													8	32					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892651	11892651	+	Missense_Mutation	SNP	A	A	G	rs138221659		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:11892651A>G	ENST00000357901.4	+	4	2114	c.2012A>G	c.(2011-2013)tAt>tGt	p.Y671C	ZNF441_ENST00000454339.2_Missense_Mutation_p.Y604C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAAACCCTATAAGTGTAAA	0.398000													31	65					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149191090	149191090	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:149191090C>T	ENST00000461958.2	-	3	592	c.396G>A	c.(394-396)ctG>ctA	p.L132L	ZNF746_ENST00000458143.2_Silent_p.L132L|ZNF746_ENST00000340622.3_Silent_p.L132L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	132	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCAGGGAGACCAGCGTCTCGT	0.502000													40	118					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71532495	71532495	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:71532495C>T	ENST00000370920.3	-	9	1194	c.893G>A	c.(892-894)cGc>cAc	p.R298H	ZRANB2_ENST00000477096.1_5'UTR|ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.R298H	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	298	Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCTTTTTTTGCGATCACCAGA	0.388000													4	165					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121282323	121282323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:121282323G>A	ENST00000297848.3	+	26	3393	c.3123G>A	c.(3121-3123)tgG>tgA	p.W1041*	COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W1041*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W946*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1041	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGGATCCTGGAGCATTGGAG	0.428000													27	132					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170090032	170090032	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:170090032G>T	ENST00000263816.3	-	30	5272	c.4987C>A	c.(4987-4989)Cgt>Agt	p.R1663S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1663					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAACCCGACGAGTAGCACGG	0.493000													20	73					3.62473e-10	3.94236e-10	1	1	0
BPIFB2	80341	broad.mit.edu	37	20	31601626	31601626	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:31601626C>A	ENST00000170150.3	+	5	514	c.319C>A	c.(319-321)Ccc>Acc	p.P107T		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	107						extracellular region	lipid binding										CGCCCCAGAGCCCCTGGAGCT	0.612000													22	71					1.55795e-14	1.73929e-14	1	1	0
SFTPA2	729238	broad.mit.edu	37	10	81319204	81319204	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:81319204C>T	ENST00000372325.2	-	3	120	c.36G>A	c.(34-36)ttG>ttA	p.L12L	SFTPA2_ENST00000372327.5_Silent_p.L12L	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	12			L -> W.		cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	p.L12L(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGCTGCCATCAAGATGAGGG	0.652000									Pulmonary Fibrosis, Idiopathic				27	131					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18721646	18721646	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:18721646G>A	ENST00000380548.4	+	15	2328	c.1989G>A	c.(1987-1989)ttG>ttA	p.L663L	ADAMTSL1_ENST00000276935.6_Silent_p.L663L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	663	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTGCAATTTGGATCCCTGCC	0.592000													23	41					0	0	1	0	0
C14orf28	122525	broad.mit.edu	37	14	45373697	45373697	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:45373697G>A	ENST00000325192.3	+	4	989	c.714G>A	c.(712-714)gcG>gcA	p.A238A	C14orf28_ENST00000557112.1_Silent_p.A208A|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000553841.1_3'UTR	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	238										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AAGATCTGGCGTATGTACCCT	0.348000													23	108					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922482	24922482	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:24922482G>A	ENST00000329468.2	+	1	1942	c.1468G>A	c.(1468-1470)Gca>Aca	p.A490T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGTCGTAGGAGCAGCGCCTCT	0.517000													65	216					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185958709	185958709	+	Silent	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:185958709T>C	ENST00000271588.4	+	21	3367	c.3138T>C	c.(3136-3138)agT>agC	p.S1046S	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.S1046S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1046	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAGGAGAGTGGGGAGTATG	0.488000													35	69					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306562	41306562	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:41306562C>T	ENST00000373198.3	-	7	1332	c.1097G>A	c.(1096-1098)gGt>gAt	p.G366D	PTPRT_ENST00000373193.3_Missense_Mutation_p.G366D|PTPRT_ENST00000373190.1_Missense_Mutation_p.G366D|PTPRT_ENST00000356100.2_Missense_Mutation_p.G366D|PTPRT_ENST00000373201.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373184.1_Missense_Mutation_p.G366D|PTPRT_ENST00000373187.1_Missense_Mutation_p.G366D	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	366	Fibronectin type-III 1.				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	p.G366V(1)		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)				ACCCCCCTCACCTGGTCGTGT	0.562000													7	139					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17688742	17688742	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:17688742G>A	ENST00000262077.2	-	2	218	c.219C>T	c.(217-219)agC>agT	p.S73S	NUP153_ENST00000537253.1_Silent_p.S73S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	73					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGGAACCTCGCTTGTGTCTG	0.448000													43	114					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187644	123187644	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:123187644G>A	ENST00000328880.5	-	1	246	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	63					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)	AGGAAAATCCGGCTGGATTTC	0.537000													20	49					0	0	1	0	0
RP11-468E2.4	0	broad.mit.edu	37	14	24629157	24629157	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:24629157C>T	ENST00000558468.1	+	11	1409	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	RNF31_ENST00000559275.1_Missense_Mutation_p.A844V|RNF31_ENST00000382687.3_Missense_Mutation_p.A844V|RNF31_ENST00000324103.6_Missense_Mutation_p.A995V																							GCTGGCTATGCCGGCCTGTGC	0.592000													4	123					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396174	154396174	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:154396174G>T	ENST00000435029.4	+	1	2915	c.2755G>T	c.(2755-2757)Gag>Tag	p.E919*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	919	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTTACAAGCTGAGCTGGTCAG	0.468000													19	60					4.96729e-08	5.3203e-08	1	1	0
ADCY2	108	broad.mit.edu	37	5	7766898	7766898	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:7766898G>A	ENST00000338316.4	+	17	2282	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	ADCY2_ENST00000537121.1_Silent_p.A551A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	731					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCTGCGTGCGCAGAATTTAT	0.428000													6	373					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23603613	23603613	+	Silent	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:23603613C>A	ENST00000305877.8	+	4	2389	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	BCR_ENST00000359540.3_Silent_p.I546I	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	546	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TCGAGACCATCTTCTTCAAAG	0.592000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								78	85					5.02462e-34	5.79342e-34	1	1	0
UBC	7316	broad.mit.edu	37	12	125397148	125397148	+	Silent	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:125397148A>G	ENST00000536769.1	-	1	2746	c.1170T>C	c.(1168-1170)ggT>ggC	p.G390G	UBC_ENST00000546120.1_Silent_p.G314G|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.G390G			P0CG48	UBC_HUMAN	ubiquitin C	390	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGATGGTCTTACCAGTCAGGG	0.532000													21	306					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209803174	209803174	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:209803174C>T	ENST00000391911.1	-	9	1429	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q	LAMB3_ENST00000356082.4_Missense_Mutation_p.R347Q|LAMB3_ENST00000367030.3_Missense_Mutation_p.R347Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	347	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTGTGGTCCCGGCAATTGTC	0.592000													5	178					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33768700	33768700	+	Silent	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:33768700T>C	ENST00000530401.1	-	10	1220	c.1200A>G	c.(1198-1200)acA>acG	p.T400T	FBXO3_ENST00000531080.1_Silent_p.T92T|FBXO3_ENST00000534136.1_Silent_p.T405T|FBXO3_ENST00000532057.1_Silent_p.T92T|FBXO3_ENST00000448981.2_Silent_p.T405T|FBXO3_ENST00000526785.1_Silent_p.T292T|FBXO3_ENST00000265651.3_Silent_p.T405T			Q9UK99	FBX3_HUMAN	F-box protein 3	405	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ACACCCTGAATGTTGGACATG	0.383000													26	56					0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81371617	81371617	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:81371617G>A	ENST00000398636.3	+	3	174	c.36G>A	c.(34-36)ttG>ttA	p.L12L	SFTPA1_ENST00000419470.2_Silent_p.L27L|SFTPA1_ENST00000372308.3_Silent_p.L12L|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000428376.2_Silent_p.L12L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	12					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ACCTCATCTTGATGGCAGCCT	0.637000													14	172					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986738	61986738	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:61986738C>A	ENST00000409186.1	-	5	3599	c.1494G>T	c.(1492-1494)gaG>gaT	p.E498D	PCDH20_ENST00000409204.4_Missense_Mutation_p.E498D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	471	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACTGCTGTAGCTCATAGTCCA	0.393000													42	145					2.24893e-16	2.53757e-16	1	1	0
AGTR1	185	broad.mit.edu	37	3	148459459	148459459	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:148459459A>G	ENST00000542281.1	+	4	1083	c.637A>G	c.(637-639)Aca>Gca	p.T213A	AGTR1_ENST00000349243.3_Missense_Mutation_p.T213A|AGTR1_ENST00000475347.1_Missense_Mutation_p.T213A|AGTR1_ENST00000404754.2_Missense_Mutation_p.T213A|AGTR1_ENST00000418473.2_Missense_Mutation_p.T213A|AGTR1_ENST00000474935.1_Missense_Mutation_p.T213A|AGTR1_ENST00000497524.1_Missense_Mutation_p.T213A|AGTR1_ENST00000461609.1_Missense_Mutation_p.T213A|AGTR1_ENST00000402260.1_Missense_Mutation_p.T213A	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	213					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GATCATTCTTACAAGTTATAC	0.363000													4	102					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209953904	209953904	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:209953904G>C	ENST00000367024.1	+	15	1918	c.1402G>C	c.(1402-1404)Gac>Cac	p.D468H	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D468H|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D448H|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D448H|TRAF3IP3_ENST00000477431.1_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	468						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)		GGATCTCAGAGACCAGCTGCA	0.507000													60	78					0	0	1	0	0
ART4	420	broad.mit.edu	37	12	14994042	14994042	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:14994042C>T	ENST00000228936.4	-	2	571	c.190G>A	c.(190-192)Gat>Aat	p.D64N	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	64					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TGGTACTGATCATCAAAAGAA	0.358000													37	203					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129739989	129739989	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:129739989C>T	ENST00000446488.3	-	23	3034	c.2931G>A	c.(2929-2931)atG>atA	p.M977I	NFRKB_ENST00000524794.1_Missense_Mutation_p.M1002I|NFRKB_ENST00000304521.5_Missense_Mutation_p.M977I|NFRKB_ENST00000524746.1_Missense_Mutation_p.M977I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	977					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCAATGTGGCCATCATGTCCG	0.557000													62	75					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155026	155026	+	RNA	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:155026C>G	ENST00000510175.1	+	0	461							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CACGTGCTCTCACGCCTAACT	0.333000													13	17					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77406606	77406606	+	Silent	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:77406606C>G	ENST00000560626.2	-	7	5608	c.5133G>C	c.(5131-5133)ctG>ctC	p.L1711L	PEAK1_ENST00000312493.4_Silent_p.L1711L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1711					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTTCCCTGTCCAGGGACTTCT	0.502000													40	92					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376688	50376688	+	Silent	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:50376688A>G	ENST00000376020.2	-	4	2410	c.2385T>C	c.(2383-2385)caT>caC	p.H795H	SHROOM4_ENST00000289292.7_Silent_p.H795H|SHROOM4_ENST00000460112.3_Silent_p.H679H	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	795					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTTGTTGCTATGAGTGGTTA	0.453000													51	44					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184294876	184294876	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:184294876G>A	ENST00000330394.2	+	5	1711	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	420	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCCACACGCGCTACACCTTT	0.627000													10	104					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603800	95603800	+	Silent	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:95603800T>C	ENST00000343958.4	-	2	1483	c.1260A>G	c.(1258-1260)aaA>aaG	p.K420K	FGD6_ENST00000549499.1_Silent_p.K420K|FGD6_ENST00000546711.1_Silent_p.K420K	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	420					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATTAGAGTCTTTATCAAAAG	0.388000													53	132					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28146992	28146992	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:28146992C>T	ENST00000302326.4	-	2	4828	c.3874G>A	c.(3874-3876)Gcc>Acc	p.A1292T	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1292							binding	p.A1292T(1)		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						CGAGCCTTGGCGTCACCCACG	0.592000			T	ETV6	"""AML, meningioma"""								23	89					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20117799	20117799	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:20117799T>A	ENST00000397165.2	-	4	672	c.512A>T	c.(511-513)aAa>aTa	p.K171I	ZNF682_ENST00000597972.1_Missense_Mutation_p.K177I|ZNF682_ENST00000397162.1_Missense_Mutation_p.K139I|ZNF682_ENST00000358523.5_Missense_Mutation_p.K139I|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.K95I	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTGAAAAGTTTCTCTGTAGT	0.313000													24	83					0	0	1	0	0
RFXAP	5994	broad.mit.edu	37	13	37401869	37401869	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:37401869G>C	ENST00000255476.2	+	3	932	c.798G>C	c.(796-798)caG>caC	p.Q266H	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	266	C-terminal domain.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GACAACAGCAGTTTCCAGGAA	0.343000													9	38					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117241008	117241008	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:117241008G>T	ENST00000362057.3	-	2	830	c.662C>A	c.(661-663)gCa>gAa	p.A221E	DFNB31_ENST00000374057.3_Missense_Mutation_p.A221E|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	221	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGCGCCCTGCTGAGTACAC	0.642000													6	27					0.000157383	0.000164395	1	1	0
DENND4A	10260	broad.mit.edu	37	15	65989607	65989607	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:65989607G>A	ENST00000443035.3	-	21	3160	c.2945C>T	c.(2944-2946)tCc>tTc	p.S982F	DENND4A_ENST00000431932.2_Missense_Mutation_p.S939F	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATACCTACAGGAACTACAATC	0.289000													5	46					0	0	1	0	0
GALK2	2585	broad.mit.edu	37	15	49531556	49531556	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr15:49531556C>T	ENST00000327171.3	+	5	695	c.463C>T	c.(463-465)Cta>Tta	p.L155L	GALK2_ENST00000543495.1_Silent_p.L37L|GALK2_ENST00000396509.2_Silent_p.L142L|GALK2_ENST00000560031.1_Silent_p.L166L|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000559454.1_Silent_p.L142L|GALK2_ENST00000544523.1_Silent_p.L142L	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	166					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GGGAAGGAATCTATCCAAGGT	0.453000													20	39					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134023256	134023256	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:134023256T>A	ENST00000534548.2	-	33	4319	c.4255A>T	c.(4255-4257)Agc>Tgc	p.S1419C	NCAPD3_ENST00000526787.2_5'UTR	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1419					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCACTGATGCTCTCTGCATAA	0.552000													64	97					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480848	57480848	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:57480848G>A	ENST00000371236.2	-	12	1415	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	DAB1_ENST00000371234.4_Silent_p.L384L|DAB1_ENST00000420954.2_Silent_p.L382L|DAB1_ENST00000439789.2_Silent_p.L298L|DAB1_ENST00000371231.1_Silent_p.L417L|DAB1_ENST00000414851.2_Silent_p.L366L|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	417					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CAAGGGGGGTGAGGGGACCTT	0.587000													36	79					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38475887	38475887	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:38475887G>C	ENST00000356264.2	-	12	1334	c.1119C>G	c.(1117-1119)caC>caG	p.H373Q	AMPH_ENST00000325590.5_Missense_Mutation_p.H373Q|AMPH_ENST00000428293.2_Missense_Mutation_p.H373Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	373					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACATGGGTGAGTGGGTCACTC	0.468000													15	62					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798328	55798328	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:55798328T>C	ENST00000313555.1	+	1	434	c.434T>C	c.(433-435)aTt>aCt	p.I145T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTCTGCTTCATTGTGTTGGCA	0.458000													48	100					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67225884	67225884	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:67225884C>T	ENST00000438189.2	+	6	723	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	CABP4_ENST00000325656.5_Missense_Mutation_p.R232W			P57796	CABP4_HUMAN	calcium binding protein 4	232					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCGGAGCTGCGGGAGGCGGT	0.642000													5	207					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171794	34171794	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:34171794C>G	ENST00000588240.1	+	15	1606	c.1491C>G	c.(1489-1491)gaC>gaG	p.D497E	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.D494E	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	497	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		atggtggagaccgaggaggct	0.612000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								6	33					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413000													4	107					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844460	128844460	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:128844460G>A	ENST00000310343.9	-	20	2589	c.2590C>T	c.(2590-2592)Cca>Tca	p.P864S	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P515S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P515S|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.P790S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	864					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi 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						GTAAAGAATGGACTCAGTTTC	0.458000													24	121					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979462	46979462	+	Silent	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:46979462T>C	ENST00000264318.3	-	4	1441	c.459A>G	c.(457-459)agA>agG	p.R153R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	153					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTCATAATTCTAAAAAGCT	0.313000													22	32					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79708071	79708071	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:79708071C>G	ENST00000275034.4	-	18	2084	c.1917G>C	c.(1915-1917)gaG>gaC	p.E639D		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	639					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTGGGCTGATCTCCTGGTTTG	0.398000													39	110					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8132318	8132318	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:8132318C>A	ENST00000396677.2	-	3	550	c.551G>T	c.(550-552)gGg>gTg	p.G184V	RIC3_ENST00000335425.7_Missense_Mutation_p.G164V|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.G346V|RIC3_ENST00000343202.4_Missense_Mutation_p.G345V|RIC3_ENST00000425599.2_Missense_Mutation_p.G265V|RIC3_ENST00000539720.1_Missense_Mutation_p.G297V			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	346						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.G345V(1)		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)		GATGCCCAACCCTTCATCTTT	0.488000													42	113					1.15505e-17	1.3103e-17	1	1	0
PIGQ	9091	broad.mit.edu	37	16	624441	624441	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:624441G>A	ENST00000321878.5	+	2	526	c.367G>A	c.(367-369)Gag>Aag	p.E123K	PIGQ_ENST00000026218.5_Missense_Mutation_p.E123K|PIGQ_ENST00000409527.2_Missense_Mutation_p.E123K|PIGQ_ENST00000470411.2_Missense_Mutation_p.E123K	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	123					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGCCCCTGGTGAGGACCAGGT	0.687000													5	16					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19969065	19969065	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:19969065A>T	ENST00000263207.3	-	5	856	c.565T>A	c.(565-567)Ttt>Att	p.F189I	ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406522.1_Missense_Mutation_p.F126I|ARVCF_ENST00000401994.1_Missense_Mutation_p.F126I|ARVCF_ENST00000344269.3_Missense_Mutation_p.F126I|ARVCF_ENST00000406259.1_Missense_Mutation_p.F189I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	189					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCTTCGGGAAAGCCACCCCCA	0.701000													8	40					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36978763	36978763	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:36978763G>A	ENST00000274963.8	+	3	486	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	105	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAGAGAAGAAGATCGTCCAGG	0.607000													21	56					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32148570	32148570	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:32148570C>T	ENST00000373672.3	-	37	3019	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M	COL16A1_ENST00000373668.3_Missense_Mutation_p.V835M|COL16A1_ENST00000271069.6_Missense_Mutation_p.V834M	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	835	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGAGGTCCCACAGGTCCGGTG	0.567000													15	58					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16208374	16208374	+	Silent	SNP	C	C	T	rs141152204	by1000genomes	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:16208374C>T	ENST00000352083.6	-	5	740	c.663G>A	c.(661-663)gaG>gaA	p.E221E	SOX6_ENST00000528429.1_Silent_p.E221E|SOX6_ENST00000316399.6_Silent_p.E221E|SOX6_ENST00000396356.3_Silent_p.E221E|SOX6_ENST00000527619.1_Silent_p.E224E|SOX6_ENST00000528252.1_Silent_p.E221E			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	221	Gln-rich.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCCGTTGTTTCTCAATTTGTG	0.522000													50	190					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844397	123844397	+	Silent	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:123844397G>C	ENST00000369005.1	+	4	2722	c.2382G>C	c.(2380-2382)acG>acC	p.T794T	TACC2_ENST00000453444.2_Silent_p.T794T|TACC2_ENST00000515603.1_Silent_p.T794T|TACC2_ENST00000515273.1_Silent_p.T794T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.T794T|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	794						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)				TGGGGCTCACGGCACTCATCC	0.617000													25	48					0	0	1	0	0
GOPC	57120	broad.mit.edu	37	6	117900158	117900158	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:117900158C>T	ENST00000535237.1	-	2	584	c.355G>A	c.(355-357)Gta>Ata	p.V119I	GOPC_ENST00000368498.2_Missense_Mutation_p.V119I|GOPC_ENST00000052569.6_Missense_Mutation_p.V119I					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TGATCATGTACTTCTTTCTCC	0.393000			O	ROS1	glioblastoma								6	77					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101299800	101299800	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:101299800G>A	ENST00000519449.1	-	3	919	c.603C>T	c.(601-603)taC>taT	p.Y201Y	RNF19A_ENST00000341084.2_Silent_p.Y201Y	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	201					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TAAATTCTTCGTATTTTTCCA	0.388000													56	135					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098807	178098807	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:178098807T>C	ENST00000397062.3	-	2	792	c.238A>G	c.(238-240)Aca>Gca	p.T80A	NFE2L2_ENST00000446151.2_Missense_Mutation_p.T64A|NFE2L2_ENST00000423513.1_Missense_Mutation_p.T64A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.T64A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.T64A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	80					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T80P(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATTCACCTGTCTCTTCATCT	0.438000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			30	261					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66422259	66422259	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:66422259G>A	ENST00000262139.5	-	12	1249	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A335V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	417					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGGTCCCGTCGCAAACTCATG	0.507000													23	62					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39247049	39247049	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr7:39247049C>T	ENST00000518318.2	+	4	383	c.341C>T	c.(340-342)cCc>cTc	p.P114L	POU6F2_ENST00000403058.1_Missense_Mutation_p.P114L|POU6F2_ENST00000559001.1_Missense_Mutation_p.P106L|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	114					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P114H(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCGGGAGGCCCCCCAGCCCTC	0.582000													41	175					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691385	90691385	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:90691385A>G	ENST00000312600.3	+	2	1023	c.809A>G	c.(808-810)tAt>tGt	p.Y270C	PABPC5_ENST00000373105.1_Missense_Mutation_p.Y106C	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	270	RRM 3.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAAGTCCTCTATGTAGGGCGA	0.488000													14	40					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499311	62499311	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:62499311T>C	ENST00000225792.5	-	7	1206	c.805A>G	c.(805-807)Ata>Gta	p.I269V	DDX5_ENST00000450599.2_Missense_Mutation_p.I190V|DDX5_ENST00000578804.1_Missense_Mutation_p.I269V	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	269	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTTACTCTTATTTGATCCACA	0.363000			T	ETV4	prostate								53	163					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19384466	19384466	+	Silent	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:19384466A>T	ENST00000263208.5	-	7	754	c.498T>A	c.(496-498)atT>atA	p.I166I	HIRA_ENST00000340170.4_Silent_p.I166I|HIRA_ENST00000541063.1_Silent_p.I122I|HIRA_ENST00000546308.1_Silent_p.I122I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	166					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GAGTAGCTAGAATTTCTGTGA	0.478000													18	76					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14581479	14581479	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:14581479C>T	ENST00000242783.6	+	20	2694	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	PKN1_ENST00000342216.4_Silent_p.I849I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	843	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCGAAGCCATCGGCATCATGA	0.657000													10	41					0	0	1	0	0
BORA	79866	broad.mit.edu	37	13	73320113	73320113	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr13:73320113G>C	ENST00000390667.5	+	9	867	c.770G>C	c.(769-771)aGt>aCt	p.S257T	BORA_ENST00000377815.3_Missense_Mutation_p.S187T	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	257	Ser-rich.				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										ATTCAGGCTAGTGCAAAAAAA	0.373000													38	130					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54416163	54416163	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr19:54416163C>T	ENST00000391767.1	+	2	290	c.78C>T	c.(76-78)atC>atT	p.I26I	CACNG7_ENST00000222212.2_Silent_p.I26I|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Silent_p.I26I			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	26					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTAGGCATCGCGGTCAGCA	0.647000													18	53					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889481	30889481	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:30889481C>T	ENST00000475541.1	-	1	1750	c.818G>A	c.(817-819)aGg>aAg	p.R273K	PURG_ENST00000339382.2_Missense_Mutation_p.R273K	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	273						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAAGTAGAACCTTTTATTGTC	0.428000													20	76					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46000054	46000054	+	Translation_Start_Site	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr3:46000054G>A	ENST00000438446.1	-	0	99				FYCO1_ENST00000296137.2_Silent_p.H1215H|FYCO1_ENST00000535325.1_Silent_p.H1215H			Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1						transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTTTGCCACCGTGCTTGCTCA	0.562000													29	52					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2120559	2120559	+	Missense_Mutation	SNP	G	G	A	rs45517203	byFrequency	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr16:2120559G>A	ENST00000219476.3	+	17	2449	c.1819G>A	c.(1819-1821)Gcg>Acg	p.A607T	TSC2_ENST00000568454.1_Missense_Mutation_p.A618T|TSC2_ENST00000439673.2_Missense_Mutation_p.A570T|TSC2_ENST00000350773.4_Missense_Mutation_p.A607T|TSC2_ENST00000353929.4_Missense_Mutation_p.A607T|TSC2_ENST00000382538.6_Missense_Mutation_p.A558T|TSC2_ENST00000401874.2_Missense_Mutation_p.A607T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	607			A -> T.		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	p.A607T(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGCCAATCGCGAGCAGCAT	0.622000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				29	62					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56044041	56044041	+	Silent	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:56044041A>G	ENST00000313033.2	+	1	1013	c.927A>G	c.(925-927)gtA>gtG	p.V309V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACAAAGATGTAAAGGAGGCAA	0.353000													25	100					0	0	1	0	0
RAB6C-AS1	100131320	broad.mit.edu	37	2	130725847	130725847	+	RNA	SNP	C	C	T	rs151288976	by1000genomes	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:130725847C>T	ENST00000412425.1	-	0	771					NR_036537.1																						TTGGTTTTGGCGCTTCTGTTG	0.478000													19	57					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52901042	52901042	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:52901042C>T	ENST00000371544.3	-	27	4517	c.4255G>A	c.(4255-4257)Gaa>Aaa	p.E1419K	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1420K	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1419	Gln-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTTACACATTCTGATGACTGT	0.453000													5	80					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577157	7577157	+	Splice_Site	SNP	T	T	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:7577157T>G	ENST00000420246.2	-	8	915		c.e8-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTACCACTACTCAGGATA	0.512000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	18					0	0	1	0	0
PSCA	8000	broad.mit.edu	37	8	143763539	143763539	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr8:143763539G>A	ENST00000301258.4	+	3	417	c.334G>A	c.(334-336)Ggc>Agc	p.G112S		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	112										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGGGGACCCGGCCAGCTCTA	0.711000													4	57					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	65					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34871782	34871782	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:34871782G>A	ENST00000431794.3	-	7	988	c.466C>T	c.(466-468)Cct>Tct	p.P156S	MYO19_ENST00000586007.1_Missense_Mutation_p.P156S|MYO19_ENST00000544606.1_Missense_Mutation_p.P22S|MYO19_ENST00000268852.9_Missense_Mutation_p.P156S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	156	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAAGATGCAGGTGAGGTGGCC	0.537000													10	31					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77948888	77948888	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:77948888C>A	ENST00000393684.3	-	5	877	c.486G>T	c.(484-486)tgG>tgT	p.W162C	ISM2_ENST00000412904.1_Missense_Mutation_p.W169C|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.W169C|ISM2_ENST00000342219.4_Missense_Mutation_p.W250C			Q6H9L7	ISM2_HUMAN	isthmin 2	250						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TGTAGTCTCCCCAGAGGAAGG	0.607000													16	119					3.99206e-14	4.43328e-14	1	1	0
GPC3	2719	broad.mit.edu	37	X	133087078	133087078	+	Splice_Site	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:133087078T>C	ENST00000370818.3	-	2	781	c.337_splice	c.e2+1	p.Q112_splice	GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Splice_Site_p.Q112_splice	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	112						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGAACTCACCTTGGAAAACCG	0.378000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				84	148					0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54972508	54972508	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:54972508A>T	ENST00000217109.4	+	3	767	c.415A>T	c.(415-417)Agg>Tgg	p.R139W	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	139					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TGACACAGAGAGGATGTTGGC	0.398000													44	129					0	0	1	0	0
HES7	84667	broad.mit.edu	37	17	8025100	8025100	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:8025100G>A	ENST00000541682.2	-	4	481	c.482C>T	c.(481-483)cCt>cTt	p.P161L	HES7_ENST00000317814.4_Missense_Mutation_p.P156L	NM_001165967.1|NM_032580.3	NP_001159439.1|NP_115969.2	Q9BYE0	HES7_HUMAN	hes family bHLH transcription factor 7	156	Pro-rich.				mesoderm development|transcription, DNA-dependent	nucleus	DNA binding										GTGCAGCGCAGGGCCAAGGGC	0.761000													8	11					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22170647	22170647	+	Silent	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:22170647C>T	ENST00000374695.3	-	65	8689	c.8610G>A	c.(8608-8610)cgG>cgA	p.R2870R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2870	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTACCTGGTGCCGGGCAGGGA	0.627000													4	103					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31867888	31867888	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:31867888T>C	ENST00000397525.1	-	3	335	c.112A>G	c.(112-114)Ata>Gta	p.I38V	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.I38V|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.I38V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.I38V	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	38						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTTCTTTTATATCCAAGAGT	0.343000													33	130					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139113676	139113676	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:139113676T>A	ENST00000358701.5	-	6	824	c.787A>T	c.(787-789)Atc>Ttc	p.I263F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	263					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TTTGGGTAGATCAGGTAACAC	0.552000													25	70					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1628933	1628933	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:1628933C>G	ENST00000399685.1	-	1	760	c.683G>C	c.(682-684)tGc>tCc	p.C228S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	228	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGACACAGCAGCTGGACTG	0.597000													42	258					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47219490	47219490	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:47219490G>A	ENST00000300404.2	+	3	548	c.489G>A	c.(487-489)gcG>gcA	p.A163A	B4GALNT2_ENST00000393354.2_Silent_p.A103A|B4GALNT2_ENST00000504681.1_Silent_p.A77A	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	163					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ACCTCCCAGCGGTGAAAGCGA	0.507000													28	81					0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16717105	16717105	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chrX:16717105A>G	ENST00000443824.1	-	3	1021	c.278T>C	c.(277-279)aTa>aCa	p.I93T	CTPS2_ENST00000380241.3_Missense_Mutation_p.I93T|CTPS2_ENST00000359276.4_Missense_Mutation_p.I93T	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	93					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ATGCTGATATATCTTCCCCGT	0.373000													33	115					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70948979	70948979	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:70948979C>T	ENST00000334414.6	-	20	5148	c.5104G>A	c.(5104-5106)Gct>Act	p.A1702T	PTPRB_ENST00000261266.5_Missense_Mutation_p.A1484T|PTPRB_ENST00000538708.1_Missense_Mutation_p.A1394T|PTPRB_ENST00000451516.2_Missense_Mutation_p.A1394T|PTPRB_ENST00000550857.1_Missense_Mutation_p.A1394T|PTPRB_ENST00000550358.1_Missense_Mutation_p.A1614T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1484					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TATTTCACAGCTCCATTGGTG	0.458000													14	56					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225379381	225379381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr2:225379381G>A	ENST00000264414.4	-	4	825	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	CUL3_ENST00000344951.4_Nonsense_Mutation_p.Q97*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.Q139*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.Q139*|CUL3_ENST00000432260.2_5'UTR	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	163					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AATAGAGTTTGCCGTAGATGA	0.353000													26	96					0	0	1	0	0
GATA3-AS1	399717	broad.mit.edu	37	10	8092994	8092994	+	RNA	SNP	T	T	C			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr10:8092994T>C	ENST00000355358.1	-	0	1632					NR_024256.1																						GCGCCCTGGGTCTGTAGCCCT	0.706000													3	18					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51044054	51044054	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr22:51044054G>A	ENST00000399908.2	+	5	1824	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E256K|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E358K|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.E341K|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.E370K|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.E635K	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	636					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGAGGCCGAGGAGGACGA	0.662000													9	31					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34611605	34611605	+	Missense_Mutation	SNP	C	C	T	rs151169935		TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:34611605C>T	ENST00000373973.3	+	11	1524	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	CNBD2_ENST00000349339.1_Missense_Mutation_p.R447W|CNBD2_ENST00000538900.1_Intron					cyclic nucleotide binding domain containing 2																		TGAGTTGATACGGATAAGGAA	0.443000													12	100					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538023	39538023	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:39538023C>A	ENST00000394001.1	-	2	529	c.499G>T	c.(499-501)Gcc>Tcc	p.A167S		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	167	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ACCAGCCTGGCATTCTCAGCC	0.458000													27	142					2.48779e-11	2.73398e-11	1	1	0
USH2A	7399	broad.mit.edu	37	1	216251525	216251525	+	Silent	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:216251525G>A	ENST00000366943.2	-	27	5864	c.5478C>T	c.(5476-5478)tcC>tcT	p.S1826S	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.S1826S|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1826	Laminin G-like 2.				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)		GCTGGTCTCCGGACTCCGATG	0.418000										HNSCC(13;0.011)			30	290					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710803	117710803	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:117710803A>G	ENST00000368508.3	-	12	1667	c.1469T>C	c.(1468-1470)aTc>aCc	p.I490T	ROS1_ENST00000368507.3_Missense_Mutation_p.I499T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	490					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCGAGGTAGGATGAGATGGGA	0.438000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								16	65					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71732293	71732293	+	Silent	SNP	G	G	A	rs141785503	byFrequency	TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr11:71732293G>A	ENST00000393695.3	-	8	748	c.417C>T	c.(415-417)gaC>gaT	p.D139D	NUMA1_ENST00000358965.6_Silent_p.D139D|NUMA1_ENST00000351960.6_Silent_p.D139D	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	139					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGTTTAGCCCGTCCTCATGGT	0.478000			T	RARA	APL								10	131					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73813557	73813557	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:73813557G>A	ENST00000293218.3	+	10	1483	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	UNK_ENST00000589666.1_Missense_Mutation_p.E419K			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	419							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCGGCTTCGAGAGGGAAGA	0.612000													7	30					0	0	1	0	0
SNORA80E	677823	broad.mit.edu	37	1	116164598	116164598	+	RNA	DEL	A	A	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr1:116164598delA	ENST00000384771.1	-	0	28																											gcccacagagaagggccccca	0.473													2	4	---	---	---	---					
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr4:105412465_105412467delGCC	ENST00000394767.2	-	2	943_945	c.493_495delGGC	c.(493-495)del	p.G165del	CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	0	Interaction with DVL1 (By similarity).				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695													9	110	---	---	---	---					
CTB-57H20.1	0	broad.mit.edu	37	5	143132079	143132079	+	RNA	DEL	G	G	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr5:143132079delG	ENST00000503323.1	+	0	379																											ACTGCCCACTGATAGCTCCTC	0.562													13	28	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80744740	80744740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr6:80744740delT	ENST00000509894.1	+	15	2479	c.1650delT	c.(1648-1650)gcfs	p.A550fs	TTK_ENST00000369798.2_Frame_Shift_Del_p.A551fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.A550fs			P33981	TTK_HUMAN	TTK protein kinase	551	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGATATATGCTATAAAATATG	0.299													34	155	---	---	---	---					
C9orf37	85026	broad.mit.edu	37	9	140510463	140510465	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr9:140510463_140510465delCCA	ENST00000371417.3	-	3	727_729	c.187_189delTGG	c.(187-189)del	p.W63del	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	63										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		GGTTCAAATTCCAGTTCTCCTTT	0.571													22	52	---	---	---	---					
APAF1	317	broad.mit.edu	37	12	99042592	99042592	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr12:99042592delT	ENST00000547743.1	+	3	533	c.327delT	c.(325-327)tafs	p.Y109fs	APAF1_ENST00000359972.2_Intron|APAF1_ENST00000357310.1_Splice_Site_p.Y109_splice|APAF1_ENST00000550527.1_Intron|APAF1_ENST00000549007.1_Splice_Site_p.Y109_splice|APAF1_ENST00000333991.1_Splice_Site_p.Y109_splice|APAF1_ENST00000547045.1_Splice_Site_p.Y109_splice|APAF1_ENST00000552268.1_Splice_Site_p.Y109_splice|APAF1_ENST00000551964.1_Splice_Site_p.Y109_splice|APAF1_ENST00000339433.3_Splice_Site_p.Y109_splice			O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	109	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TAACTTCGTATGGTTTGTATC	0.373													24	104	---	---	---	---					
OR4Q3	441669	broad.mit.edu	37	14	20215682	20215683	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr14:20215682_20215683insT	ENST00000331723.1	+	1	96_97	c.96_97insT	c.(94-99)ttttttfs	p.FF32fs		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTATTTTTGTTTTTTTACAT	0.381													26	169	---	---	---	---					
SRSF2	6427	broad.mit.edu	37	17	74733220	74733221	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr17:74733220_74733221insGA	ENST00000392485.2	-	1	194_195	c.22_23insTC	c.(22-24)cgafs	p.R8fs	MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000591864.1_Intron|SRSF2_ENST00000508921.3_Frame_Shift_Ins_p.R8fs|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Frame_Shift_Ins_p.R8fs|MFSD11_ENST00000586622.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	8					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTCCACATCGGGAGGGGGGCGG	0.698			Mis		"""MDS, CLL"""								7	15	---	---	---	---					
STMN3	50861	broad.mit.edu	37	20	62284693	62284693	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A71B-01A-12D-A34J-08	TCGA-UF-A71B-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	115fc73e-31d9-455d-b669-9e1e1d685309	bde1491b-56ba-4a3e-90de-860e84520ae2	g.chr20:62284693delG	ENST00000370053.1	-	1	87	c.6delC	c.(4-6)gcfs	p.A2fs		NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	2					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			AAATGGTGCTGGCCATGGTGC	0.741											OREG0006921	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=STMN3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2	4	---	---	---	---					
