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
LIMCH1	22998	broad.mit.edu	37	4	41621226	41621226	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:41621226C>T	ENST00000313860.7	+	8	758	c.704C>T	c.(703-705)tCc>tTc	p.S235F	LIMCH1_ENST00000509277.1_Missense_Mutation_p.S81F|LIMCH1_ENST00000503057.1_Missense_Mutation_p.S76F|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S235F|LIMCH1_ENST00000509638.1_Missense_Mutation_p.S76F|LIMCH1_ENST00000513024.1_Missense_Mutation_p.S76F|LIMCH1_ENST00000396595.3_Missense_Mutation_p.S81F|LIMCH1_ENST00000508501.1_Missense_Mutation_p.S235F|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S76F|LIMCH1_ENST00000509454.1_Missense_Mutation_p.S83F|LIMCH1_ENST00000381753.4_Missense_Mutation_p.S81F|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S235F|LIMCH1_ENST00000512820.1_Missense_Mutation_p.S235F|LIMCH1_ENST00000514096.1_Missense_Mutation_p.S88F	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	235					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GACTCTGAATCCGACTTGCCT	0.507000													52	170					0	0	0.003610	0	0
POTEC	388468	broad.mit.edu	37	18	14542672	14542672	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:14542672G>A	ENST00000358970.5	-	1	473	c.474C>T	c.(472-474)atC>atT	p.I158I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	158										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGAGCATGACGATGAGATCCT	0.582000													26	88					0	0	0.007291	0	0
HOXB5	3215	broad.mit.edu	37	17	46669679	46669679	+	Silent	SNP	G	G	A	rs140096647		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:46669679G>A	ENST00000239151.5	-	2	980	c.702C>T	c.(700-702)tcC>tcT	p.S234S	HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000465846.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	234						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TCTGGCGCTCGGACAGGCAGA	0.577000													29	77					0	0	0.006320	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117397991	117397991	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:117397991G>A	ENST00000160373.3	-	11	3297	c.3206C>T	c.(3205-3207)gCg>gTg	p.A1069V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1069										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CGGGGACTGCGCGAAGCTCTG	0.443000													9	13					0	0	0.000978	0	0
FLNA	2316	broad.mit.edu	37	X	153595823	153595823	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:153595823C>T	ENST00000422373.1	-	5	1058	c.810G>A	c.(808-810)aaG>aaA	p.K270K	FLNA_ENST00000360319.4_Silent_p.K270K|FLNA_ENST00000344736.4_Silent_p.K270K|FLNA_ENST00000369850.3_Silent_p.K270K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	270	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGCCCCTGGCTTCAGCTTGG	0.637000													14	46					0	0	0.004007	0	0
SREBF2	6721	broad.mit.edu	37	22	42293159	42293159	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:42293159G>T	ENST00000361204.4	+	14	2765	c.2599G>T	c.(2599-2601)Gcc>Tcc	p.A867S	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	867					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTCAAGTCCGCCCTGGGTAA	0.562000													7	12					5.4927e-09	1.19666e-08	0.004482	1	0
RASSF6	166824	broad.mit.edu	37	4	74450947	74450947	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:74450947C>T	ENST00000307439.5	-	6	811	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	RASSF6_ENST00000335049.5_Missense_Mutation_p.E161K|RASSF6_ENST00000395777.2_Missense_Mutation_p.E173K|RASSF6_ENST00000342081.3_Missense_Mutation_p.E205K	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	205					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTCTGTCTTTCTTTTCTGTCC	0.383000													24	48					0	0	0.002780	0	0
ACADM	34	broad.mit.edu	37	1	76199254	76199254	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:76199254G>C	ENST00000370841.4	+	5	765	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	ACADM_ENST00000543667.1_Intron|ACADM_ENST00000370834.5_Missense_Mutation_p.E143Q|ACADM_ENST00000541113.1_Missense_Mutation_p.E74Q|ACADM_ENST00000420607.2_Missense_Mutation_p.E114Q	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	110					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TTTAATTAGTGAAGAATTGGC	0.348000													23	49					0	0	0.007291	0	0
SLC9A4	389015	broad.mit.edu	37	2	103142776	103142776	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:103142776G>A	ENST00000295269.4	+	11	2466	c.2009G>A	c.(2008-2010)gGa>gAa	p.G670E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	670					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGTCTGCAGGAAGAGACACA	0.532000													20	31					0	0	0.001882	0	0
PIK3CB	5291	broad.mit.edu	37	3	138413734	138413734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:138413734G>A	ENST00000477593.1	-	13	1859	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	PIK3CB_ENST00000544716.1_Nonsense_Mutation_p.Q42*|PIK3CB_ENST00000289153.2_Nonsense_Mutation_p.Q596*			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	596	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGCCAAATCTGAAGCAGCGCC	0.473000													48	208					0	0	0.003610	0	0
MAGEC3	139081	broad.mit.edu	37	X	140953359	140953359	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:140953359G>A	ENST00000298296.1	+	2	226	c.226G>A	c.(226-228)Gat>Aat	p.D76N		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	76										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCGAATGGATAGTCTTGT	0.507000													18	56					0	0	0.002299	0	0
NME8	51314	broad.mit.edu	37	7	37907456	37907456	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:37907456C>T	ENST00000199447.4	+	11	1146	c.774C>T	c.(772-774)gtC>gtT	p.V258V	NME8_ENST00000440017.1_Silent_p.V258V|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	258					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AACCTGAGGTCGAAGCCCAGG	0.443000													11	9					0	0	0.008291	0	0
XIST	7503	broad.mit.edu	37	X	73071335	73071335	+	RNA	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:73071335G>A	ENST00000429829.1	-	0	1253					NR_001564.2																						CGCCATTTTGGACAACCTAAC	0.498000													47	89					0	0	0.003610	0	0
PADI4	23569	broad.mit.edu	37	1	17682598	17682598	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:17682598C>T	ENST00000375448.4	+	12	1457	c.1431C>T	c.(1429-1431)agC>agT	p.S477S	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	477					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGTTCCTGAGCTTTGTGCCAG	0.622000													6	12					0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	2944783	2944783	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:2944783G>A	ENST00000602557.1	-	50	7868	c.7313C>T	c.(7312-7314)cCc>cTc	p.P2438L	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2438L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2438L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2437L|CSMD1_ENST00000520002.1_Missense_Mutation_p.P2438L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2437L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2438	Sushi 14.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCTTCAGGGGGTGGGTCAA	0.493000													15	47					0	0	0.002450	0	0
KLB	152831	broad.mit.edu	37	4	39409207	39409207	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:39409207C>T	ENST00000257408.4	+	1	735	c.638C>T	c.(637-639)aCc>aTc	p.T213I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	213	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AAAAATGATACCATAATAGAT	0.388000													13	47					0	0	0.001855	0	0
FLG2	388698	broad.mit.edu	37	1	152328424	152328424	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:152328424G>A	ENST00000388718.5	-	3	1910	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	613	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGACCTGATCTAGACTC	0.507000													51	142					0	0	0.003610	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802653	96802653	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:96802653G>A	ENST00000371270.3	-	7	1237	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	CYP2C8_ENST00000539050.1_Silent_p.I295I|CYP2C8_ENST00000535898.1_Silent_p.I279I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	381					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTACCTTGGGGATGAGGTAGT	0.453000													15	55					0	0	0.004990	0	0
SYTL2	54843	broad.mit.edu	37	11	85436663	85436663	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:85436663C>T	ENST00000359152.5	-	1	2408	c.2409G>A	c.(2407-2409)ggG>ggA	p.G803G	SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Silent_p.G279G|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Silent_p.G279G|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	312	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CAAAAAATCTCCCCTCTTCCA	0.433000													13	62					0	0	0.001368	0	0
DPYD	1806	broad.mit.edu	37	1	98165049	98165049	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:98165049C>T	ENST00000370192.3	-	6	638	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	180					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GACATTTTTTCTGGGGGAGGC	0.423000													17	82					0	0	0.006122	0	0
USP13	8975	broad.mit.edu	37	3	179470094	179470094	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:179470094C>T	ENST00000263966.3	+	14	2202	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Silent_p.F512F	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	577					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTGCTTCATTCCCTGAATACT	0.368000													9	61					0	0	0.006214	0	0
DNAH8	1769	broad.mit.edu	37	6	38883070	38883070	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:38883070G>A	ENST00000359357.3	+	66	9660	c.9406G>A	c.(9406-9408)Gaa>Aaa	p.E3136K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E3100K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3353K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATTGTGGATGAAATTGATAG	0.418000													9	23					0	0	0.004482	0	0
MYH2	4620	broad.mit.edu	37	17	10436645	10436645	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:10436645C>T	ENST00000245503.5	-	21	2782	c.2398G>A	c.(2398-2400)Ggg>Agg	p.G800R	MYH2_ENST00000397183.2_Missense_Mutation_p.G800R|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	800	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCAAGAACCCTCTGCACCTG	0.458000													26	53					0	0	0.007291	0	0
TFDP3	51270	broad.mit.edu	37	X	132352192	132352192	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:132352192G>A	ENST00000310125.4	-	1	184	c.96C>T	c.(94-96)tcC>tcT	p.S32S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	32						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTTCACGGTGGAGGTGTGAA	0.517000													4	6					0	0	0.000248	0	0
GPR34	2857	broad.mit.edu	37	X	41555639	41555639	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:41555639G>A	ENST00000378142.4	+	3	1037	c.753G>A	c.(751-753)agG>agA	p.R251R	CASK_ENST00000378163.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Silent_p.R251R	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	251						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TTTCTAAAAGGAGGTCAAAAT	0.303000													8	17					0	0	0.004482	0	0
CERKL	375298	broad.mit.edu	37	2	182412551	182412551	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:182412551G>A	ENST00000410087.3	-	9	1257	c.1157C>T	c.(1156-1158)tCt>tTt	p.S386F	CERKL_ENST00000374969.2_Missense_Mutation_p.S273F|CERKL_ENST00000409440.3_Missense_Mutation_p.S368F|CERKL_ENST00000374970.2_Missense_Mutation_p.S317F|CERKL_ENST00000339098.5_Missense_Mutation_p.S412F|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	412					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGACTCACCAGATTTGGGAGA	0.403000													40	87					0	0	0.007835	0	0
TERT	7015	broad.mit.edu	37	5	1266600	1266600	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:1266600G>A	ENST00000310581.5	-	10	2690	c.2633C>T	c.(2632-2634)aCc>aTc	p.T878I	TERT_ENST00000334602.6_Missense_Mutation_p.T878I|TERT_ENST00000296820.5_3'UTR|TERT_ENST00000508104.2_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	878	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTTCGCGTGGGTGAGGTGAGG	0.537000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				3	12					0	0	0.000248	0	0
MYOM1	8736	broad.mit.edu	37	18	3187585	3187585	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:3187585G>A	ENST00000400569.3	-	5	1155	c.822C>T	c.(820-822)ctC>ctT	p.L274L	MYOM1_ENST00000356443.4_Silent_p.L274L|MYOM1_ENST00000261606.7_Silent_p.L274L			P52179	MYOM1_HUMAN	myomesin 1	274						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGGAGCATGGAGAAGATGGT	0.408000													10	22					0	0	0.006214	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116093018	116093018	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:116093018G>T	ENST00000369271.3	-	3	482	c.182C>A	c.(181-183)aCc>aAc	p.T61N	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.T61N|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.T61N	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	61					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTTGTTGATGGTCACTTTGTT	0.498000													14	43					1.49906e-05	3.23451e-05	0.002450	1	0
SMTN	6525	broad.mit.edu	37	22	31492806	31492806	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:31492806C>T	ENST00000333137.7	+	14	2167	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I	SMTN_ENST00000358743.1_Missense_Mutation_p.T650I|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000347557.2_Missense_Mutation_p.T650I	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	650					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACTGAGACCACCACGAGGCAC	0.687000													16	22					0	0	0.003163	0	0
CDH8	1006	broad.mit.edu	37	16	61687599	61687599	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:61687599C>T	ENST00000577390.1	-	12	3267	c.2313G>A	c.(2311-2313)caG>caA	p.Q771Q	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	771					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGTCAAAATTCTGGTCTGAGT	0.502000													5	22					0	0	0.001168	0	0
HBG2	3048	broad.mit.edu	37	11	5275577	5275577	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:5275577G>A	ENST00000380259.2	-	7	1500	c.260C>T	c.(259-261)gCc>gTc	p.A87V	HBG2_ENST00000336906.4_Missense_Mutation_p.A87V|HBG2_ENST00000380252.1_Missense_Mutation_p.A77V					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)		ACTCAGCTGGGCAAAGGTGCC	0.522000													19	100					0	0	0.002780	0	0
ITGA2	3673	broad.mit.edu	37	5	52374689	52374689	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:52374689C>T	ENST00000296585.5	+	24	3056	c.2913C>T	c.(2911-2913)ttC>ttT	p.F971F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	971					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTCCAAAATTCATCTTCTCCC	0.373000													4	27					0	0	0.000248	0	0
INPP4A	3631	broad.mit.edu	37	2	99149941	99149941	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:99149941C>G	ENST00000074304.5	+	5	646	c.253C>G	c.(253-255)Cag>Gag	p.Q85E	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Missense_Mutation_p.Q85E|INPP4A_ENST00000409540.3_Missense_Mutation_p.Q85E|INPP4A_ENST00000545415.1_Missense_Mutation_p.Q85E|INPP4A_ENST00000409016.3_Missense_Mutation_p.Q85E|INPP4A_ENST00000523221.1_Missense_Mutation_p.Q85E	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	85	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GAAGCATGCACAGACGGAGAT	0.522000													8	41					0	0	0.008291	0	0
CDA	978	broad.mit.edu	37	1	20931527	20931527	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:20931527C>T	ENST00000375071.3	+	2	443	c.261C>T	c.(259-261)atC>atT	p.I87I	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	87					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CAATTGCTATCGCCAGGTGAG	0.453000													8	8					0	0	0.004482	0	0
TG	7038	broad.mit.edu	37	8	133920538	133920538	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:133920538G>A	ENST00000220616.4	+	18	3995	c.3955G>A	c.(3955-3957)Gtt>Att	p.V1319I	TG_ENST00000377869.1_Missense_Mutation_p.V1319I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1319					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACTTTCCAGGTTTTCATATT	0.582000													13	29					0	0	0.001368	0	0
TXNDC15	79770	broad.mit.edu	37	5	134223703	134223703	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:134223703C>T	ENST00000358387.4	+	2	1047	c.422C>T	c.(421-423)cCt>cTt	p.P141L	TXNDC15_ENST00000546290.1_Missense_Mutation_p.P118L	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	141					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCACACTTCCCTGACAGAGAA	0.562000													7	34					0	0	0.003080	0	0
TACR3	6870	broad.mit.edu	37	4	104640803	104640803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:104640803C>T	ENST00000304883.2	-	1	170	c.30G>A	c.(28-30)tgG>tgA	p.W10*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	10						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCCCGTCTATCCAGGTTTCTG	0.672000													7	30					0	0	0.004482	0	0
OR2J3	442186	broad.mit.edu	37	6	29080287	29080287	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:29080287C>T	ENST00000377169.1	+	1	620	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ATCACAAGCTCCATATTTGTT	0.463000													10	53					0	0	0.008291	0	0
HLA-G	3135	broad.mit.edu	37	6	29797602	29797602	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:29797602C>T	ENST00000428701.1	+	6	1083	c.905C>T	c.(904-906)tCc>tTc	p.S302F	HLA-G_ENST00000376815.3_Missense_Mutation_p.S118F|HLA-G_ENST00000360323.6_Missense_Mutation_p.S302F|HLA-G_ENST00000376818.3_Missense_Mutation_p.S210F|HLA-G_ENST00000376828.2_Missense_Mutation_p.S307F	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	302	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAGCAGTCTTCCCTGCCCACC	0.582000													13	44					0	0	0.004007	0	0
RASA2	5922	broad.mit.edu	37	3	141274726	141274726	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:141274726C>T	ENST00000286364.3	+	7	691	c.656C>T	c.(655-657)cCg>cTg	p.P219L	RASA2_ENST00000452898.1_Missense_Mutation_p.P219L			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	219	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACAAGCAATCCGCAGTTTAAT	0.264000													7	22					0	0	0.008291	0	0
TTC17	55761	broad.mit.edu	37	11	43418915	43418915	+	Silent	SNP	C	C	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:43418915C>A	ENST00000039989.4	+	7	806	c.792C>A	c.(790-792)gcC>gcA	p.A264A	TTC17_ENST00000299240.6_Silent_p.A264A|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	264							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AAGACATTGCCCTGGTCAACC	0.453000													16	57					2.23348e-06	4.83778e-06	0.004007	1	0
CCL13	6357	broad.mit.edu	37	17	32684565	32684565	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:32684565A>C	ENST00000225844.2	+	2	223	c.148A>C	c.(148-150)Agc>Cgc	p.S50R		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	50					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				GAGGCTGAAGAGCTATGTGAT	0.483000													41	108					0	0	0.003610	0	0
COL22A1	169044	broad.mit.edu	37	8	139763734	139763734	+	Silent	SNP	G	G	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:139763734G>T	ENST00000303045.6	-	22	2498	c.2052C>A	c.(2050-2052)ggC>ggA	p.G684G	COL22A1_ENST00000435777.1_Silent_p.G684G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	684	Collagen-like 4.|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)			GTCCATCCCTGCCTTCTGGGC	0.453000										HNSCC(7;0.00092)			15	45					2.48551e-13	5.43613e-13	0.004990	1	0
OLFML2B	25903	broad.mit.edu	37	1	161976197	161976197	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:161976197C>T	ENST00000294794.3	-	4	1036	c.613G>A	c.(613-615)Gag>Aag	p.E205K	OLFML2B_ENST00000367940.2_Missense_Mutation_p.E205K	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	205										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TTATTCATCTCGGTTCGAATT	0.433000													30	42					0	0	0.008361	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249254	90249254	+	RNA	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:90249254C>T	ENST00000468879.1	+	0	391																											AGCTCTTCATCTATTATGCAT	0.507000													35	123					0	0	0.005524	0	0
IGSF21	84966	broad.mit.edu	37	1	18692048	18692048	+	Missense_Mutation	SNP	G	G	A	rs149943630		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:18692048G>A	ENST00000251296.1	+	6	1255	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	291						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCCACAGCCGCACCCCGAGC	0.632000													16	52					0	0	0.004990	0	0
CATSPER3	347732	broad.mit.edu	37	5	134332199	134332199	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:134332199C>T	ENST00000282611.6	+	3	575	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	163					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.I163I(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCAGGGCATCCGGGTGAGTG	0.562000													15	35					0	0	0.006122	0	0
SF3A2	8175	broad.mit.edu	37	19	2247809	2247809	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:2247809C>T	ENST00000221494.4	+	9	1077	c.659C>T	c.(658-660)cCa>cTa	p.P220L		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	220	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGGCTCCACCCAGCCTC	0.662000													11	48					0	0	0.001368	0	0
TMLHE	55217	broad.mit.edu	37	X	154754275	154754275	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:154754275G>A	ENST00000334398.3	-	3	345	c.200C>T	c.(199-201)aCc>aTc	p.T67I	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.T67I	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	67					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCGCATCACGGTATTAGCATA	0.428000													26	51					0	0	0.006320	0	0
SLC15A1	6564	broad.mit.edu	37	13	99358482	99358482	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:99358482C>T	ENST00000376503.5	-	16	1230	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	392					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GACTTCGTTTCCTTTGGGGAA	0.388000													7	15					0	0	0.003080	0	0
MROH2B	133558	broad.mit.edu	37	5	41005013	41005013	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:41005013C>T	ENST00000399564.4	-	36	4324	c.3874G>A	c.(3874-3876)Gaa>Aaa	p.E1292K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGGATTGGTTCCTTCATGAGC	0.493000													3	17					0	0	0.000248	0	0
NLRC5	84166	broad.mit.edu	37	16	57101676	57101676	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:57101676G>A	ENST00000436936.1	+	36	4660	c.4435G>A	c.(4435-4437)Gat>Aat	p.D1479N	NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450N|NLRC5_ENST00000262510.6_Missense_Mutation_p.D1479N|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450N			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1479					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGTGAGGACGATGATGCCAG	0.507000													15	48					0	0	0.003163	0	0
GPR162	27239	broad.mit.edu	37	12	6933395	6933395	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:6933395C>T	ENST00000311268.3	+	2	1118	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron|GPR162_ENST00000541431.1_3'UTR	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	111						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGTCGCCTCCCTCTCCTACCA	0.597000													18	37					0	0	0.007413	0	0
NUTM1	256646	broad.mit.edu	37	15	34647303	34647303	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:34647303G>A	ENST00000537011.1	+	7	1826	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	NUTM1_ENST00000438749.3_Missense_Mutation_p.E472K|NUTM1_ENST00000333756.4_Missense_Mutation_p.E454K					NUT midline carcinoma, family member 1																		CTTAATTGAGGAGCTAGAGCA	0.453000													22	65					0	0	0.002780	0	0
GRM5	2915	broad.mit.edu	37	11	88300511	88300511	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:88300511C>T	ENST00000418177.2	-	8	2707	c.2340G>A	c.(2338-2340)acG>acA	p.T780T	GRM5_ENST00000305432.5_Silent_p.T780T|GRM5_ENST00000393297.1_Silent_p.T780T|GRM5_ENST00000455756.2_Silent_p.T780T|GRM5_ENST00000305447.4_Silent_p.T780T			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	780					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.T780T(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TAATGCAGGTCGTGTACATTG	0.458000													30	64					0	0	0.001786	0	0
BAI3	577	broad.mit.edu	37	6	70040418	70040418	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:70040418G>A	ENST00000370598.1	+	23	3877	c.3056G>A	c.(3055-3057)gGa>gAa	p.G1019E	BAI3_ENST00000238918.8_Missense_Mutation_p.G225E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1019					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTCTTGAAGGAGGACTACTC	0.368000													9	20					0	0	0.008291	0	0
LDB2	9079	broad.mit.edu	37	4	16510269	16510269	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:16510269C>T	ENST00000502640.1	-	7	928	c.780G>A	c.(778-780)agG>agA	p.R260R	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000503178.2_Silent_p.R136R|LDB2_ENST00000304523.5_Silent_p.R260R|LDB2_ENST00000441778.2_Silent_p.R260R|LDB2_ENST00000515064.1_Silent_p.R260R			O43679	LDB2_HUMAN	LIM domain binding 2	260							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGGAATTTTTCCTTTTTCTCC	0.488000													9	30					0	0	0.004482	0	0
ENPP6	133121	broad.mit.edu	37	4	185074732	185074732	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:185074732C>T	ENST00000296741.2	-	2	537	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	132					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGTAGACCTTCCTTTTGGCCT	0.473000													6	25					0	0	0.003080	0	0
FCRL5	83416	broad.mit.edu	37	1	157516898	157516898	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:157516898G>A	ENST00000361835.3	-	3	299	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368190.3_Missense_Mutation_p.R48C|FCRL5_ENST00000368188.2_Missense_Mutation_p.R48C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R48C|FCRL5_ENST00000368189.3_Missense_Mutation_p.R48C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	48	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.R48C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGTAGAAGCGAAATCCCTTG	0.478000													27	67					0	0	0.004656	0	0
RNF214	257160	broad.mit.edu	37	11	117152104	117152104	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:117152104T>C	ENST00000530849.1	+	8	765	c.755T>C	c.(754-756)aTg>aCg	p.M252T	RNF214_ENST00000531452.1_Missense_Mutation_p.M407T|RNF214_ENST00000531287.1_Missense_Mutation_p.M252T|RNF214_ENST00000300650.4_Missense_Mutation_p.M407T			Q8ND24	RN214_HUMAN	ring finger protein 214	407							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GTTCGGATAATGAAAAAGAAT	0.433000													6	14					0	0	0.001984	0	0
KLK13	26085	broad.mit.edu	37	19	51559877	51559877	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:51559877G>A	ENST00000595793.1	-	5	843	c.801C>T	c.(799-801)acC>acT	p.T267T	KLK13_ENST00000335422.3_Silent_p.T115T|KLK13_ENST00000595547.1_Silent_p.T194T	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	267					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTTGCTGCTGGGTTTCATATT	0.507000													48	134					0	0	0.003610	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951469	30951469	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:30951469A>T	ENST00000402321.1	-	3	1060	c.743T>A	c.(742-744)cTg>cAg	p.L248Q	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.L248Q|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.L248Q|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.L248Q|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.L248Q|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.L248Q|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.L248Q			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	248					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AAGGAGCACCAGGTGGAAGCG	0.612000													18	28					0	0	0.007413	0	0
TMEM131	23505	broad.mit.edu	37	2	98427651	98427651	+	Silent	SNP	A	A	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:98427651A>G	ENST00000186436.5	-	18	2136	c.1908T>C	c.(1906-1908)ctT>ctC	p.L636L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	636						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTTTTGCAGTAAGTTTGACTC	0.388000													59	138					0	0	0.003610	0	0
FUT9	10690	broad.mit.edu	37	6	96651418	96651418	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:96651418G>A	ENST00000302103.5	+	3	713	c.387G>A	c.(385-387)caG>caA	p.Q129Q		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	129					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CACCCTTCCAGAAATGGATTT	0.463000													11	22					0	0	0.000978	0	0
TLL1	7092	broad.mit.edu	37	4	166924563	166924563	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:166924563G>A	ENST00000061240.2	+	6	1300	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	TLL1_ENST00000513213.1_Missense_Mutation_p.R218Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R218Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	218	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TATGTAGGTCGGCGAGGAAAT	0.428000													18	43					0	0	0.008871	0	0
AP3D1	8943	broad.mit.edu	37	19	2117228	2117228	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:2117228G>A	ENST00000355272.6	-	16	2058	c.1852C>T	c.(1852-1854)Ccc>Tcc	p.P618S	AP3D1_ENST00000350812.6_Missense_Mutation_p.P449S|AP3D1_ENST00000345016.5_Missense_Mutation_p.P618S|AP3D1_ENST00000356926.4_Missense_Mutation_p.P527S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	618					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACCCTTCGGGGACTGGAACC	0.637000													3	13					0	0	0.004672	0	0
C9orf84	158401	broad.mit.edu	37	9	114476800	114476800	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:114476800C>T	ENST00000394779.3	-	13	2275	c.2031G>A	c.(2029-2031)aaG>aaA	p.K677K	C9orf84_ENST00000374287.3_Silent_p.K716K|C9orf84_ENST00000318737.4_Silent_p.K716K|C9orf84_ENST00000394777.4_Silent_p.K642K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	716								p.K677N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGGTTTCAGGCTTTTTCCCCC	0.383000													9	35					0	0	0.004482	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004909	153004909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:153004909C>T	ENST00000307098.4	+	2	153	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	SPRR1B_ENST00000392661.3_Nonsense_Mutation_p.Q30*	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	30					keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTCCACCTCAGGAACCATG	0.622000													38	105					0	0	0.005524	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621198	99621198	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:99621198C>T	ENST00000324306.6	+	2	303	c.69C>T	c.(67-69)atC>atT	p.I23I	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_5'UTR	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	23					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGATGGTATCGTAATAGTGA	0.547000													17	59					0	0	0.004990	0	0
RIMS2	9699	broad.mit.edu	37	8	105263285	105263285	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:105263285G>A	ENST00000507740.1	+	21	3403	c.3167G>A	c.(3166-3168)gGa>gAa	p.G1056E	RIMS2_ENST00000406091.3_Missense_Mutation_p.G1242E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G1081E|RIMS2_ENST00000339750.2_Missense_Mutation_p.G178E|RIMS2_ENST00000436393.2_Missense_Mutation_p.G1260E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1304					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAGATAACGGAGTCTGCATA	0.418000										HNSCC(12;0.0054)			11	33					0	0	0.000978	0	0
FLG2	388698	broad.mit.edu	37	1	152326002	152326002	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:152326002C>T	ENST00000388718.5	-	3	4332	c.4260G>A	c.(4258-4260)agG>agA	p.R1420R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1420							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCAGATCCCCTTCTTCCAG	0.532000													56	125					0	0	0.003610	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68938200	68938200	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:68938200C>T	ENST00000356291.2	-	5	414	c.355G>A	c.(355-357)Gat>Aat	p.D119N	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	119	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CCTTGTTCATCTGGACTGAAG	0.294000													4	15					0	0	0.000602	0	0
KCNC2	3747	broad.mit.edu	37	12	75444659	75444659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:75444659G>A	ENST00000549446.1	-	3	1806	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	KCNC2_ENST00000298972.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000350228.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.R376*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	376					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R376*(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTACTAGCTCGAAGAGTATGT	0.453000													7	22					0	0	0.003080	0	0
TENM4	26011	broad.mit.edu	37	11	78381171	78381171	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:78381171C>T	ENST00000278550.7	-	32	6681	c.6219G>A	c.(6217-6219)gaG>gaA	p.E2073E		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCATGCCTTCCTCAGTGAAGC	0.542000													8	15					0	0	0.004482	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017931	161017931	+	Silent	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:161017931T>C	ENST00000368013.3	-	12	3200	c.2880A>G	c.(2878-2880)gcA>gcG	p.A960A	ARHGAP30_ENST00000368015.1_Silent_p.A783A|ARHGAP30_ENST00000368016.3_Silent_p.A749A	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	960					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GATTTGCAGGTGCCACATGAA	0.592000													22	75					0	0	0.001523	0	0
GBE1	2632	broad.mit.edu	37	3	81699036	81699036	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:81699036G>A	ENST00000429644.2	-	4	1109	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	GBE1_ENST00000489715.1_Missense_Mutation_p.R115C	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	156					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GGTGAAATACGATACAAGATC	0.363000									Glycogen Storage Disease, type IV				12	23					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9085264	9085264	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:9085264G>A	ENST00000397910.4	-	1	6754	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2184	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGGCAGGGATATTGTCCT	0.448000													9	18					0	0	0.004482	0	0
NOX5	79400	broad.mit.edu	37	15	69328262	69328262	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:69328262A>G	ENST00000260364.5	+	8	1421	c.1120A>G	c.(1120-1122)Agt>Ggt	p.S374G	NOX5_ENST00000388866.3_Missense_Mutation_p.S392G|NOX5_ENST00000530406.2_Missense_Mutation_p.S364G|NOX5_ENST00000448182.3_Missense_Mutation_p.S346G|NOX5_ENST00000455873.3_Missense_Mutation_p.S357G			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	392	Ferric oxidoreductase.|Poly-Leu.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CATCCGCAGGAGTGGCCACTT	0.577000													13	34					0	0	0.001855	0	0
CFHR4	10877	broad.mit.edu	37	1	196876105	196876105	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:196876105G>A	ENST00000367416.2	+	4	688	c.551G>A	c.(550-552)gGa>gAa	p.G184E	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AGCAGTTATGGAAACACCACA	0.378000													6	13					0	0	0.001984	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501461	90501461	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:90501461G>A	ENST00000325643.5	+	4	2125	c.2059G>A	c.(2059-2061)Ggc>Agc	p.G687S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TGCAGGGAAGGGCAGGAAGGA	0.612000													13	48					0	0	0.002450	0	0
EPHA1	2041	broad.mit.edu	37	7	143096020	143096020	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:143096020C>T	ENST00000275815.3	-	6	1096	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	337	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R337Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTCAGGTTTCGGGGGGCCGA	0.637000													6	7					0	0	0.001168	0	0
WBP2NL	164684	broad.mit.edu	37	22	42423026	42423026	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:42423026C>T	ENST00000328823.9	+	6	802	c.771C>T	c.(769-771)ctC>ctT	p.L257L	WBP2NL_ENST00000543212.1_Silent_p.L183L	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	257	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	p.L257L(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCCACCTCTCGGATATGGAG	0.612000													45	114					0	0	0.003610	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026397	176026397	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:176026397G>A	ENST00000303991.4	-	2	616	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	147						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAACATGGGATTTCTGTCA	0.527000													23	70					0	0	0.002299	0	0
NUMBL	9253	broad.mit.edu	37	19	41174022	41174022	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:41174022G>A	ENST00000252891.4	-	10	1348	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	NUMBL_ENST00000540131.1_Missense_Mutation_p.P353L|NUMBL_ENST00000598779.1_Missense_Mutation_p.P353L	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	394					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGGCACGGAGGGCTCACCCCA	0.657000													4	13					0	0	0.000248	0	0
SCAF4	57466	broad.mit.edu	37	21	33076218	33076218	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr21:33076218G>A	ENST00000286835.7	-	4	563	c.181C>T	c.(181-183)Ccg>Tcg	p.P61S	SCAF4_ENST00000434667.3_Missense_Mutation_p.P46S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P61S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	61	CID.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TATAATCCCGGAACCTTGTAT	0.358000													8	30					0	0	0.006214	0	0
DISC1	27185	broad.mit.edu	37	1	231829908	231829908	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:231829908C>T	ENST00000439617.2	+	2	457	c.404C>T	c.(403-405)cCg>cTg	p.P135L	DISC1_ENST00000539444.1_Missense_Mutation_p.P135L|DISC1_ENST00000366636.4_Missense_Mutation_p.P135L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.P135L|DISC1_ENST00000317586.4_Missense_Mutation_p.P135L|DISC1_ENST00000602281.1_Missense_Mutation_p.P135L|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.P135L|DISC1_ENST00000535983.1_Missense_Mutation_p.P135L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	135	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTTAGCTGGCCGTGTGGCCCT	0.612000													9	17					0	0	0.004482	0	0
ECE2	9718	broad.mit.edu	37	3	184008402	184008402	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:184008402C>T	ENST00000402825.3	+	15	2067	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	ECE2_ENST00000359140.4_Silent_p.I542I|ECE2_ENST00000357474.5_Silent_p.I617I|ECE2_ENST00000404464.3_Silent_p.I571I|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	689	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.I542I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAATGAGATCGTCTTCCCCG	0.627000													21	58					0	0	0.002780	0	0
LTBP2	4053	broad.mit.edu	37	14	74967592	74967592	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:74967592C>T	ENST00000261978.4	-	36	5847	c.5461G>A	c.(5461-5463)Gag>Aag	p.E1821K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E1777K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1821					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACTGCTACTCCTTGGCAGTG	0.602000													19	39					0	0	0.008871	0	0
ADCY10	55811	broad.mit.edu	37	1	167806491	167806491	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:167806491G>A	ENST00000367848.1	-	22	3294	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	ADCY10_ENST00000367851.4_Missense_Mutation_p.R1025C|ADCY10_ENST00000545172.1_Missense_Mutation_p.R872C|ADCY10_ENST00000485964.1_Intron			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1025					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTCTACCTGCGATTTTCAGGA	0.343000													12	44					0	0	0.001855	0	0
ERC1	23085	broad.mit.edu	37	12	1137495	1137495	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:1137495C>T	ENST00000397203.2	+	2	832	c.426C>T	c.(424-426)tcC>tcT	p.S142S	ERC1_ENST00000589028.1_Silent_p.S142S|ERC1_ENST00000546231.2_Silent_p.S142S|ERC1_ENST00000543086.3_Silent_p.S142S|ERC1_ENST00000360905.4_Silent_p.S142S|ERC1_ENST00000355446.5_Silent_p.S142S			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	142					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TACCTCACTCCCTTCGTCAGG	0.483000													22	46					0	0	0.002299	0	0
UBA6	55236	broad.mit.edu	37	4	68500030	68500030	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:68500030G>A	ENST00000322244.4	-	22	2002	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	648					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTGGGAAAAGGAACTTTCAAA	0.269000													12	26					0	0	0.001368	0	0
ABCB1	5243	broad.mit.edu	37	7	87179797	87179797	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:87179797C>T	ENST00000265724.3	-	12	1628	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R340Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	404	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AACTTCTTTTCGAGATGGGTA	0.323000													9	32					0	0	0.004482	0	0
LRCH1	23143	broad.mit.edu	37	13	47224445	47224445	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:47224445C>T	ENST00000311191.6	+	2	646	c.417C>T	c.(415-417)atC>atT	p.I139I	LRCH1_ENST00000389797.3_Silent_p.I139I|LRCH1_ENST00000389798.3_Silent_p.I139I	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	139										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CTGAGGCCATCGTTAATCTGC	0.343000													6	17					0	0	0.001168	0	0
WDR82	80335	broad.mit.edu	37	3	52301026	52301026	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:52301026G>A	ENST00000296490.3	-	3	549	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	90					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		GACAAGTAACGAATAGTATCT	0.308000													44	104					0	0	0.003610	0	0
GLCE	26035	broad.mit.edu	37	15	69561424	69561424	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:69561424C>T	ENST00000261858.2	+	5	1923	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	GLCE_ENST00000559420.2_Silent_p.F501F	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	565					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TCCGTCACTTCATGCTTGGCA	0.502000													38	68					0	0	0.006230	0	0
RSG1	79363	broad.mit.edu	37	1	16559447	16559447	+	Missense_Mutation	SNP	G	G	A	rs141168630		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:16559447G>A	ENST00000375599.3	-	3	750	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	111	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AACTCAAAACGAAACATGACG	0.592000													24	76					0	0	0.006320	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:59483414G>A	ENST00000312828.3	-	2	1382	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	95					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCATTGCTGGGAAGTTTGATG	0.647000													7	27					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179594515	179594515	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:179594515G>A	ENST00000589042.1	-	63	18689	c.18465C>T	c.(18463-18465)tcC>tcT	p.S6155S	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.S5838S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S4911S|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5838	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAATGAAGGAAATGCCAT	0.443000													18	55					0	0	0.004990	0	0
GALNT6	11226	broad.mit.edu	37	12	51751177	51751177	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:51751177T>C	ENST00000543196.2	-	9	1763	c.1558A>G	c.(1558-1560)Aag>Gag	p.K520E	GALNT6_ENST00000356317.3_Missense_Mutation_p.K520E			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	520	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGAGGGGCTTCCCCCCGCGG	0.602000													15	26					0	0	0.007413	0	0
TMEM175	84286	broad.mit.edu	37	4	945483	945483	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:945483C>T	ENST00000264771.4	+	6	541	c.356C>T	c.(355-357)aCc>aTc	p.T119I	TMEM175_ENST00000515740.1_Missense_Mutation_p.T3I|TMEM175_ENST00000508204.1_Missense_Mutation_p.T37I|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	119						integral to membrane		p.T119S(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCATGATGACCATCACCTTC	0.612000													21	63					0	0	0.003330	0	0
NLRP4	147945	broad.mit.edu	37	19	56363683	56363683	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:56363683G>A	ENST00000301295.6	+	2	659	c.237G>A	c.(235-237)atG>atA	p.M79I	NLRP4_ENST00000346986.5_Missense_Mutation_p.M79I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	79	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCAAAAGATGGATAGAAAGG	0.423000													9	55					0	0	0.004482	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432886	104432886	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:104432886C>T	ENST00000361820.3	-	3	2408	c.1808G>A	c.(1807-1809)gGa>gAa	p.G603E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	603					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCCATACTTTCCATCCCCTAC	0.443000													10	35					0	0	0.000978	0	0
NLRP11	204801	broad.mit.edu	37	19	56312940	56312940	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:56312940C>T	ENST00000443188.1	-	7	2879	c.2169G>A	c.(2167-2169)ctG>ctA	p.L723L	NLRP11_ENST00000589824.2_Silent_p.L669L|NLRP11_ENST00000592953.1_Silent_p.L624L|NLRP11_ENST00000589093.1_Silent_p.L723L|NLRP11_ENST00000360133.3_Silent_p.L669L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	723							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAACTCACCTCAGATGACTTA	0.493000													17	56					0	0	0.006122	0	0
SAGE1	55511	broad.mit.edu	37	X	134992695	134992695	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:134992695C>T	ENST00000535938.1	+	16	2153	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	SAGE1_ENST00000370709.3_Silent_p.S662S|SAGE1_ENST00000537770.1_Silent_p.S286S|SAGE1_ENST00000324447.3_Silent_p.S662S	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	662										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GAATTTCATCCACGATTACCA	0.438000													21	85					0	0	0.002299	0	0
CAPN10	11132	broad.mit.edu	37	2	241530424	241530424	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:241530424G>A	ENST00000391984.2	+	3	662	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.A156T|CAPN10_ENST00000391982.2_Missense_Mutation_p.A156T|CAPN10_ENST00000354082.4_Missense_Mutation_p.A156T|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	156	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AAAGGTCTACGCCAAGTGCGT	0.637000													7	21					0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152534666	152534666	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:152534666C>T	ENST00000427231.2	-	33	3493	c.3291G>A	c.(3289-3291)ggG>ggA	p.G1097G	NEB_ENST00000604864.1_Silent_p.G1097G|NEB_ENST00000397345.3_Silent_p.G1097G|NEB_ENST00000409198.1_Silent_p.G1097G|NEB_ENST00000172853.10_Silent_p.G1097G|NEB_ENST00000603639.1_Silent_p.G1097G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1097					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAACCATTTTCCCTTTAGCCT	0.363000													6	19					0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126242082	126242082	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:126242082G>A	ENST00000394329.3	+	1	4529	c.4516G>A	c.(4516-4518)Gaa>Aaa	p.E1506K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1506	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTGCCAATAGAAACTAGACG	0.398000													23	39					0	0	0.001882	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394102	233394102	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:233394102G>A	ENST00000258229.8	-	5	1740	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	502						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTTAGACTCGGAGCCTGTAT	0.562000													18	29					0	0	0.002299	0	0
IDH3G	3421	broad.mit.edu	37	X	153053002	153053002	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:153053002G>A	ENST00000370092.3	-	8	776	c.591C>T	c.(589-591)tcC>tcT	p.S197S	IDH3G_ENST00000370093.1_Silent_p.S197S|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000217901.5_Silent_p.S197S|IDH3G_ENST00000427365.2_Silent_p.S139S	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	197					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CAATGCGCAGGGACTTGGCCT	0.592000													6	20					0	0	0.001168	0	0
AKAP9	10142	broad.mit.edu	37	7	91726016	91726016	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:91726016C>T	ENST00000359028.2	+	41	9980	c.9755C>T	c.(9754-9756)tCa>tTa	p.S3252L	AKAP9_ENST00000358100.2_Missense_Mutation_p.S3198L|AKAP9_ENST00000356239.3_Missense_Mutation_p.S3248L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3252					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGAAGTTTTCACTTGAGAGT	0.383000			T	BRAF	papillary thyroid								19	19					0	0	0.007413	0	0
BRAT1	221927	broad.mit.edu	37	7	2578060	2578060	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:2578060G>A	ENST00000340611.4	-	14	2365	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	703					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CACAAAAGGCGAAGTCAAAGA	0.617000													11	27					0	0	0.008291	0	0
STAG3	10734	broad.mit.edu	37	7	99799858	99799858	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:99799858G>A	ENST00000426455.1	+	24	2865	c.2458G>A	c.(2458-2460)Gat>Aat	p.D820N	GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.D762N|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.D820N			Q9UJ98	STAG3_HUMAN	stromal antigen 3	820					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGGCCGTGATTTCCTTAG	0.478000													69	78					0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61830314	61830314	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:61830314T>C	ENST00000280772.1	-	37	10516	c.10325A>G	c.(10324-10326)aAg>aGg	p.K3442R	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3442					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GATATCTTTCTTAATTTCCAT	0.463000													16	33					0	0	0.003163	0	0
VPS11	55823	broad.mit.edu	37	11	118948999	118948999	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:118948999C>T	ENST00000300793.6	+	12	1917	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	626					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ACGACACACTCCTTGAGCTGC	0.562000													30	99					0	0	0.007291	0	0
AGBL1	123624	broad.mit.edu	37	15	86697787	86697787	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:86697787C>T	ENST00000441037.2	+	3	346	c.251C>T	c.(250-252)tCc>tTc	p.S84F	AGBL1_ENST00000421325.2_Missense_Mutation_p.S84F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	84					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTGTTTGCCTCCAGTGGTAAG	0.522000													6	16					0	0	0.003080	0	0
MECOM	2122	broad.mit.edu	37	3	168845645	168845645	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:168845645G>A	ENST00000464456.1	-	4	1453	c.253C>T	c.(253-255)Cct>Tct	p.P85S	MECOM_ENST00000460814.1_Missense_Mutation_p.P85S|MECOM_ENST00000494292.1_Missense_Mutation_p.P273S|MECOM_ENST00000433243.2_Missense_Mutation_p.P85S|MECOM_ENST00000472280.1_Missense_Mutation_p.P85S|MECOM_ENST00000392736.3_Missense_Mutation_p.P85S|MECOM_ENST00000468789.1_Missense_Mutation_p.P85S|MECOM_ENST00000264674.3_Missense_Mutation_p.P149S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGCAAATCAGGAAAAACTTGG	0.383000													16	48					0	0	0.004007	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951470	30951470	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:30951470G>A	ENST00000402321.1	-	3	1059	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	GAL3ST1_ENST00000338911.5_Silent_p.L248L|GAL3ST1_ENST00000406955.1_Silent_p.L248L|GAL3ST1_ENST00000402369.1_Silent_p.L248L|GAL3ST1_ENST00000406361.1_Silent_p.L248L|GAL3ST1_ENST00000401975.1_Silent_p.L248L|GAL3ST1_ENST00000443111.2_Silent_p.L248L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	248					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGGAGCACCAGGTGGAAGCGA	0.612000													18	28					0	0	0.006122	0	0
PAXIP1	22976	broad.mit.edu	37	7	154745976	154745976	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:154745976T>G	ENST00000404141.1	-	16	2964	c.2810A>C	c.(2809-2811)cAg>cCg	p.Q937P	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.Q937P			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	937	BRCT 5.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AATGAACTTCTGACACCTGAA	0.423000													23	123					0	0	0.005443	0	0
PRPF4	9128	broad.mit.edu	37	9	116045468	116045468	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:116045468G>T	ENST00000374199.4	+	5	938	c.537G>T	c.(535-537)tgG>tgT	p.W179C	PRPF4_ENST00000374198.4_Missense_Mutation_p.W180C			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	180						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CAAGACTATGGATTGCTAATT	0.408000													22	62					9.62636e-23	2.10953e-22	0.002299	1	0
XIST	7503	broad.mit.edu	37	X	73064192	73064192	+	RNA	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:73064192C>T	ENST00000429829.1	-	0	8396					NR_001564.2																						AGTGGGTACTCCTTGTTGAAA	0.403000													13	43					0	0	0.001855	0	0
ASTN2	23245	broad.mit.edu	37	9	119977015	119977015	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:119977015G>A	ENST00000313400.4	-	3	737	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.L213F|ASTN2_ENST00000373996.3_Missense_Mutation_p.L213F			O75129	ASTN2_HUMAN	astrotactin 2	213						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGCGCGATGAGGCCACCCTGG	0.612000													5	26					0	0	0.000602	0	0
THRA	7067	broad.mit.edu	37	17	38242991	38242991	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:38242991C>T	ENST00000450525.2	+	7	1099	c.608C>T	c.(607-609)tCc>tTc	p.S203F	THRA_ENST00000584985.1_Missense_Mutation_p.S203F|THRA_ENST00000546243.1_Missense_Mutation_p.S203F|THRA_ENST00000394121.4_Missense_Mutation_p.S203F|THRA_ENST00000264637.4_Missense_Mutation_p.S203F	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	203	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCATTGTCTCCATGCCGGAC	0.592000											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	19					0	0	0.008291	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882734	15882734	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr21:15882734C>T	ENST00000285670.2	-	6	836	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	SAMSN1_ENST00000400566.1_Missense_Mutation_p.R153Q|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	153	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.R153Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GTCATCCAGTCGAAAGCTGTC	0.478000													17	32					0	0	0.004990	0	0
CTTN	2017	broad.mit.edu	37	11	70265858	70265858	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:70265858C>T	ENST00000346329.3	+	9	883	c.575C>T	c.(574-576)tCc>tTc	p.S192F	CTTN_ENST00000376561.3_Missense_Mutation_p.S192F|CTTN_ENST00000301843.8_Missense_Mutation_p.S192F	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	192						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TTAGATTACTCCAAAGGTTTC	0.388000													6	21					0	0	0.001168	0	0
CD180	4064	broad.mit.edu	37	5	66480183	66480183	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:66480183G>A	ENST00000256447.4	-	3	645	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	163					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GAACTTAATGGAGGAAATATG	0.398000													15	64					0	0	0.002450	0	0
IL10RA	3587	broad.mit.edu	37	11	117864120	117864120	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:117864120T>A	ENST00000227752.3	+	4	652	c.532T>A	c.(532-534)Ttc>Atc	p.F178I	IL10RA_ENST00000545409.1_Missense_Mutation_p.F29I|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.F158I	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	178						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCCGGGAAACTTCACGGTATG	0.567000													13	31					0	0	0.003163	0	0
TERT	7015	broad.mit.edu	37	5	1278770	1278770	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:1278770C>T	ENST00000310581.5	-	6	2329	c.2272G>A	c.(2272-2274)Gcc>Acc	p.A758T	TERT_ENST00000334602.6_Missense_Mutation_p.A758T|TERT_ENST00000296820.5_Missense_Mutation_p.A758T|TERT_ENST00000508104.2_Missense_Mutation_p.A758T	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	758	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCTTGAAGGCCTTGCGGACG	0.562000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				136	149					0	0	0.003610	0	0
CELA1	1990	broad.mit.edu	37	12	51737633	51737633	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:51737633G>A	ENST00000293636.1	-	3	144	c.104C>T	c.(103-105)tCc>tTc	p.S35F		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	35	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						GTACTGGAGGGAAATCTAGAT	0.517000													4	3					0	0	0.000248	0	0
MPP7	143098	broad.mit.edu	37	10	28378627	28378627	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:28378627C>T	ENST00000337532.5	-	13	1372	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	MPP7_ENST00000540098.1_Missense_Mutation_p.E366K|MPP7_ENST00000445954.2_Missense_Mutation_p.E241K|MPP7_ENST00000375719.3_Missense_Mutation_p.E366K|MPP7_ENST00000375732.1_Missense_Mutation_p.E366K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	366					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTGTATTTTTCATTAGTTTGT	0.393000													25	89					0	0	0.003954	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585792	42585792	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:42585792C>T	ENST00000289957.2	+	4	433	c.305C>T	c.(304-306)tCc>tTc	p.S102F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	102					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGGATCCATTCCATTAAAGTT	0.358000													11	31					0	0	0.001855	0	0
RBP3	5949	broad.mit.edu	37	10	48389680	48389680	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:48389680C>T	ENST00000224600.4	-	1	1311	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	400	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCGTCGGGCGCGGGCCAAGAA	0.642000													17	35					0	0	0.006122	0	0
FNDC3B	64778	broad.mit.edu	37	3	172025210	172025210	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:172025210C>T	ENST00000336824.4	+	10	1218	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	FNDC3B_ENST00000416957.1_Silent_p.T373T|FNDC3B_ENST00000415807.2_Silent_p.T373T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	373	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTAGCTTCACCACCCACAGCT	0.512000													24	37					0	0	0.002780	0	0
CC2D2B	387707	broad.mit.edu	37	10	97775968	97775968	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:97775968G>A	ENST00000344386.3	+	6	583	c.419G>A	c.(418-420)aGt>aAt	p.S140N	ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000410012.2_Missense_Mutation_p.S140N|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	140										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CACTGCATCAGTTTAGCTATC	0.423000													5	15					0	0	0.000602	0	0
PRB2	653247	broad.mit.edu	37	12	11546638	11546638	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:11546638C>T	ENST00000389362.4	-	3	409	c.374G>A	c.(373-375)gGa>gAa	p.G125E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTGCCTCCTTGTGGGGG	0.612000													11	426					0	0	0.004007	0	0
PLD2	5338	broad.mit.edu	37	17	4711613	4711613	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:4711613C>T	ENST00000263088.6	+	4	416	c.285C>T	c.(283-285)gaC>gaT	p.D95D	PLD2_ENST00000572940.1_Silent_p.D95D	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	95	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTCACGGCGACTTTTCCTGGA	0.552000													53	120					0	0	0.003610	0	0
TOM1L2	146691	broad.mit.edu	37	17	17769636	17769636	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:17769636G>A	ENST00000581396.1	-	9	1004	c.908C>T	c.(907-909)tCc>tTc	p.S303F	TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000478943.1_Missense_Mutation_p.S86F|TOM1L2_ENST00000318094.10_Missense_Mutation_p.S308F|TOM1L2_ENST00000542206.1_Missense_Mutation_p.S205F|TOM1L2_ENST00000540946.1_Missense_Mutation_p.S255F|TOM1L2_ENST00000535933.1_Missense_Mutation_p.S300F|TOM1L2_ENST00000395739.4_Missense_Mutation_p.S308F|TOM1L2_ENST00000379504.3_Missense_Mutation_p.S353F	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	353	GAT.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GGAGGAGAGGGAAGATGGGGG	0.572000													4	13					0	0	0.001168	0	0
MOSPD2	158747	broad.mit.edu	37	X	14913434	14913434	+	Silent	SNP	T	T	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:14913434T>A	ENST00000380492.3	+	4	328	c.240T>A	c.(238-240)ctT>ctA	p.L80L	MOSPD2_ENST00000482354.1_Silent_p.L80L|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	80						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TTTTAGACCTTAATGAATCCT	0.294000													49	131					0	0	0.003610	0	0
MPEG1	219972	broad.mit.edu	37	11	58979353	58979353	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:58979353T>A	ENST00000361050.3	-	1	1071	c.986A>T	c.(985-987)aAg>aTg	p.K329M		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	329	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTTTGACACCTTCTTCACCAG	0.522000													14	33					0	0	0.002450	0	0
MGAM	8972	broad.mit.edu	37	7	141799434	141799434	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:141799434G>A	ENST00000475668.2	+	67	7825	c.7771G>A	c.(7771-7773)Gga>Aga	p.G2591R	MGAM_ENST00000549489.2_Missense_Mutation_p.G1695R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1695					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAATGCAAGAGGAGAGTGGAA	0.532000													22	80					0	0	0.004656	0	0
MUC17	140453	broad.mit.edu	37	7	100675084	100675084	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:100675084C>T	ENST00000306151.4	+	3	451	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	129	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCACACTTTTCCCCAGTTCTA	0.478000													31	57					0	0	0.002836	0	0
ATM	472	broad.mit.edu	37	11	108121577	108121577	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:108121577T>C	ENST00000278616.4	+	10	1770	c.1385T>C	c.(1384-1386)gTt>gCt	p.V462A	ATM_ENST00000452508.2_Missense_Mutation_p.V462A	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	462					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTACGGAAGTTGCATTGTGT	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			22	52					0	0	0.002780	0	0
SMEK1	55671	broad.mit.edu	37	14	91927910	91927910	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:91927910G>A	ENST00000554684.1	-	14	2663	c.2167C>T	c.(2167-2169)Ctt>Ttt	p.L723F	SMEK1_ENST00000554943.1_Missense_Mutation_p.L736F|SMEK1_ENST00000555462.1_Missense_Mutation_p.L497F|SMEK1_ENST00000337238.4_Missense_Mutation_p.L723F|SMEK1_ENST00000428424.2_Missense_Mutation_p.L497F|SMEK1_ENST00000555718.1_5'UTR			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	736						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CGTCCAGAAAGGTTTGTTTTC	0.428000													36	95					0	0	0.004878	0	0
DDI1	414301	broad.mit.edu	37	11	103908505	103908505	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:103908505T>C	ENST00000302259.3	+	1	1198	c.955T>C	c.(955-957)Tcc>Ccc	p.S319P	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	319					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTGCTCTTTCTCCATACTTGA	0.453000													20	65					0	0	0.007413	0	0
AGO2	27161	broad.mit.edu	37	8	141567195	141567195	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:141567195G>A	ENST00000220592.5	-	8	1131	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	AGO2_ENST00000519980.1_Missense_Mutation_p.P340L	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TGCCTCCAGGGGAAGGTAGGT	0.612000													19	71					0	0	0.008871	0	0
OR13C5	138799	broad.mit.edu	37	9	107361157	107361157	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:107361157C>T	ENST00000374779.2	-	1	631	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTAGAATTTCACAGGTGAAA	0.423000													31	69					0	0	0.008361	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114398	27114398	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:27114398C>T	ENST00000396891.4	-	1	221	c.180G>A	c.(178-180)atG>atA	p.M60I	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.M60I	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	60					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCATGATTCCCATGGCCTTAG	0.587000													7	165					0	0	0.006214	0	0
CD300C	10871	broad.mit.edu	37	17	72537788	72537788	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:72537788C>T	ENST00000330793.1	-	4	975	c.615G>A	c.(613-615)gtG>gtA	p.V205V		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	205					cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GAGGTCTGTTCACCCAGAGGA	0.597000													11	28					0	0	0.000978	0	0
SNHG14	104472715	broad.mit.edu	37	15	25336841	25336841	+	RNA	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:25336841C>T	ENST00000546682.1	+	0	944				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						AATGTGATCTCTGTTGGGTGC	0.517000													8	12					0	0	0.003080	0	0
UTP18	51096	broad.mit.edu	37	17	49338083	49338083	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:49338083C>T	ENST00000225298.7	+	1	195	c.138C>T	c.(136-138)tcC>tcT	p.S46S		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	46					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CCCCTTCATCCCAGCGGAAAc	0.731000													3	6					0	0	0.004672	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307923	39307923	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:39307923G>A	ENST00000541347.1	-	2	317	c.78C>T	c.(76-78)atC>atT	p.I26I	CX3CR1_ENST00000399220.2_Silent_p.I26I|CX3CR1_ENST00000358309.3_Silent_p.I58I|CX3CR1_ENST00000542107.1_Silent_p.I26I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	26					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAAAGACCACGATGTCCCCAA	0.473000													10	22					0	0	0.006214	0	0
LCE3B	353143	broad.mit.edu	37	1	152586476	152586476	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:152586476C>T	ENST00000335633.1	+	1	190	c.190C>T	c.(190-192)Cac>Tac	p.H64Y		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	64	Cys-rich.				keratinization			p.H64N(1)		large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CTGCAGGTCCCACCGATGCCG	0.662000													24	17					0	0	0.004656	0	0
MYO16	23026	broad.mit.edu	37	13	109365058	109365058	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:109365058G>A	ENST00000356711.2	+	3	402	c.276G>A	c.(274-276)tcG>tcA	p.S92S	MYO16_ENST00000251041.5_Silent_p.S92S|MYO16_ENST00000357550.2_Silent_p.S92S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	92					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGTCTCCTCGGGAGGGTCCC	0.572000													20	43					0	0	0.002780	0	0
NCAM1	4684	broad.mit.edu	37	11	113078089	113078089	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:113078089G>A	ENST00000316851.7	+	5	705	c.705G>A	c.(703-705)atG>atA	p.M235I	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.M127I|NCAM1_ENST00000401611.2_Missense_Mutation_p.M244I	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	245	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCCCACCATGAGCTGGACAA	0.537000													15	39					0	0	0.002450	0	0
DDI1	414301	broad.mit.edu	37	11	103908533	103908533	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:103908533T>G	ENST00000302259.3	+	1	1226	c.983T>G	c.(982-984)aTg>aGg	p.M328R	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	328					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCCATGGATATGCTTCTAGGC	0.428000													25	62					0	0	0.004656	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560939	44560939	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:44560939C>T	ENST00000332567.4	-	1	1049	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	233					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCGTTTTTCCTGGCGAGAC	0.617000													9	17					0	0	0.004482	0	0
KIAA1244	57221	broad.mit.edu	37	6	138608024	138608024	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:138608024G>A	ENST00000251691.4	+	16	2922	c.2756G>A	c.(2755-2757)cGg>cAg	p.R919Q		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	919					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACGGGCTGCGGAAAGCCGCA	0.627000													19	33					0	0	0.006122	0	0
NPBWR2	2832	broad.mit.edu	37	20	62738147	62738147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:62738147C>T	ENST00000369768.1	-	1	377	c.38G>A	c.(37-39)aGg>aAg	p.R13K		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	13						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GAAGGAGCCCCTGCTGTCAAG	0.622000													23	63					0	0	0.002299	0	0
PKD1L1	168507	broad.mit.edu	37	7	47876576	47876576	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:47876576G>A	ENST00000289672.2	-	37	5936	c.5886C>T	c.(5884-5886)tcC>tcT	p.S1962S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1962					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGCACAGCAGGGAGAAGGACA	0.602000													5	22					0	0	0.000602	0	0
COL6A3	1293	broad.mit.edu	37	2	238283377	238283377	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:238283377G>A	ENST00000295550.4	-	8	3809	c.3357C>T	c.(3355-3357)atC>atT	p.I1119I	COL6A3_ENST00000472056.1_Silent_p.I512I|COL6A3_ENST00000347401.3_Silent_p.I918I|COL6A3_ENST00000353578.4_Silent_p.I913I|COL6A3_ENST00000392004.3_Silent_p.I913I|COL6A3_ENST00000392003.2_Silent_p.I712I|COL6A3_ENST00000346358.4_Silent_p.I919I|COL6A3_ENST00000409809.1_Silent_p.I913I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1119	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCTGACCAGGATGTTCCTCA	0.642000													28	38					0	0	0.007291	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985082	157985082	+	Silent	SNP	G	G	A	rs141519128		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:157985082G>A	ENST00000389413.3	-	5	589	c.486C>T	c.(484-486)tcC>tcT	p.S162S	PTPRN2_ENST00000409483.1_Silent_p.S124S|PTPRN2_ENST00000404321.2_Silent_p.S185S|PTPRN2_ENST00000389416.4_Silent_p.S145S|PTPRN2_ENST00000389418.4_Silent_p.S162S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	162						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGGGGCCTGGGACAGGGCCT	0.697000													52	41					0	0	0.003610	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224094	43224094	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:43224094G>A	ENST00000255226.6	+	10	2136	c.1320G>A	c.(1318-1320)gtG>gtA	p.V440V	SLC14A2_ENST00000586448.1_Silent_p.V440V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	440						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGACAGTGAAAAGCGGTG	0.542000													23	48					0	0	0.003330	0	0
ADAM30	11085	broad.mit.edu	37	1	120437263	120437263	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:120437263G>A	ENST00000369400.1	-	1	1855	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	566	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGGCAAATCAGGGATGGTTTC	0.388000													136	337					0	0	0.003610	0	0
PRKAG2	51422	broad.mit.edu	37	7	151261175	151261175	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:151261175C>T	ENST00000287878.4	-	14	2077	c.1573G>A	c.(1573-1575)Gta>Ata	p.V525I	PRKAG2_ENST00000433631.2_Missense_Mutation_p.V400I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.V401I|PRKAG2_ENST00000392801.2_Missense_Mutation_p.V481I|PRKAG2_ENST00000418337.2_Missense_Mutation_p.V284I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	525	CBS 4.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TCAGCTCTTACTATTCTGTCC	0.517000													19	111					0	0	0.007413	0	0
TOP1MT	116447	broad.mit.edu	37	8	144403526	144403526	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:144403526C>T	ENST00000523676.1	-	9	1102	c.697G>A	c.(697-699)Gac>Aac	p.D233N	TOP1MT_ENST00000519148.1_Missense_Mutation_p.D233N|TOP1MT_ENST00000521193.1_Missense_Mutation_p.D233N|TOP1MT_ENST00000329245.4_Missense_Mutation_p.D331N			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	331					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCCTCACCGTCCTCCTTCTCA	0.632000													15	36					0	0	0.004990	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869662	151869662	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:151869662C>T	ENST00000329342.5	+	3	577	c.352C>T	c.(352-354)Cat>Tat	p.H118Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	118	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGTTGGTTCATTTTCTGCT	0.532000													39	89					0	0	0.003214	0	0
CRP	1401	broad.mit.edu	37	1	159683493	159683493	+	Missense_Mutation	SNP	C	C	T	rs34340208	byFrequency	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:159683493C>T	ENST00000255030.5	-	2	600	c.497G>A	c.(496-498)gGa>gAa	p.G166E	CRP_ENST00000473196.1_5'UTR|CRP_ENST00000343919.2_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	166	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGACTGGCTTCCTTCAAAGTT	0.527000													68	123					0	0	0.003610	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008598	142008598	+	RNA	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:142008598C>T	ENST00000390387.3	+	0	118																											ACAGCTGTTTCCCAGACTCCA	0.453000													29	12					0	0	0.005443	0	0
ZNF831	128611	broad.mit.edu	37	20	57766229	57766229	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:57766229C>T	ENST00000371030.2	+	1	155	c.155C>T	c.(154-156)aCt>aTt	p.T52I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	52	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCCCCCCACTGTGTTCCTG	0.731000													4	13					0	0	0.000248	0	0
CUX2	23316	broad.mit.edu	37	12	111779714	111779714	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:111779714G>A	ENST00000261726.6	+	21	3670	c.3516G>A	c.(3514-3516)cgG>cgA	p.R1172R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGAAGCCCCGGGTGGTGCTGG	0.667000													17	35					0	0	0.006122	0	0
FGFR2	2263	broad.mit.edu	37	10	123256123	123256123	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:123256123C>T	ENST00000358487.5	-	13	2058	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	FGFR2_ENST00000369060.4_Missense_Mutation_p.E480K|FGFR2_ENST00000360144.3_Missense_Mutation_p.E508K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E594K|FGFR2_ENST00000357555.5_Missense_Mutation_p.E507K|FGFR2_ENST00000457416.2_Missense_Mutation_p.E597K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E479K|FGFR2_ENST00000351936.6_Missense_Mutation_p.E594K|FGFR2_ENST00000478859.1_Missense_Mutation_p.E368K|FGFR2_ENST00000369056.1_Missense_Mutation_p.E597K|FGFR2_ENST00000369061.4_Missense_Mutation_p.E484K|FGFR2_ENST00000369059.1_Missense_Mutation_p.E482K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	596	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTCATCTGCTCCTCAGGAACA	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				39	143					0	0	0.004289	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43815560	43815560	+	Silent	SNP	C	C	T	rs73372256	by1000genomes	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr21:43815560C>T	ENST00000380399.1	-	2	922	c.219G>A	c.(217-219)gcG>gcA	p.A73A	TMPRSS3_ENST00000291532.3_5'UTR|TMPRSS3_ENST00000398405.1_5'UTR|TMPRSS3_ENST00000433957.2_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR			P57727	TMPS3_HUMAN	transmembrane protease, serine 3	0	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CATCCGGCTCCGCCTCCACCT	0.493000													12	16					0	0	0.000978	0	0
APLP2	334	broad.mit.edu	37	11	129998953	129998953	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:129998953C>T	ENST00000263574.5	+	10	1379	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	APLP2_ENST00000528499.1_Missense_Mutation_p.A380V|APLP2_ENST00000345598.5_Missense_Mutation_p.A207V|APLP2_ENST00000338167.5_Missense_Mutation_p.A436V|APLP2_ENST00000278756.7_Missense_Mutation_p.A446V|APLP2_ENST00000543137.1_Missense_Mutation_p.A343V|APLP2_ENST00000539648.1_Missense_Mutation_p.A224V	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	436					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CACTTCCAAGCCATGGTTAAA	0.547000													9	19					0	0	0.006214	0	0
OR2W1	26692	broad.mit.edu	37	6	29012292	29012292	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:29012292T>G	ENST00000377175.1	-	1	725	c.661A>C	c.(661-663)Att>Ctt	p.I221L		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTTTGGCAATGTAGCCATAG	0.408000													17	50					0	0	0.004990	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	33					0	0	0.007835	0	0
GRIK4	2900	broad.mit.edu	37	11	120732744	120732744	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:120732744C>T	ENST00000527524.2	+	9	1108	c.821C>T	c.(820-822)tCc>tTc	p.S274F	GRIK4_ENST00000438375.2_Missense_Mutation_p.S274F			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	274					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTCAACCAATCCCATGCTTTC	0.517000													47	138					0	0	0.003214	0	0
HAS1	3036	broad.mit.edu	37	19	52220345	52220345	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:52220345C>T	ENST00000540069.2	-	3	861	c.801G>A	c.(799-801)cgG>cgA	p.R267R	HAS1_ENST00000222115.1_Silent_p.R268R|HAS1_ENST00000601714.1_Silent_p.R275R|HAS1_ENST00000594621.1_Silent_p.R122R			Q92839	HAS1_HUMAN	hyaluronan synthase 1	268					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGTTAAGGATCCGCACGTCCC	0.607000													20	55					0	0	0.007413	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147623	6147623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:6147623G>A	ENST00000588304.1	+	3	530	c.84G>A	c.(82-84)tgG>tgA	p.W28*	ACSBG2_ENST00000586696.1_Nonsense_Mutation_p.W78*|ACSBG2_ENST00000591403.1_Nonsense_Mutation_p.W78*|ACSBG2_ENST00000252669.5_Nonsense_Mutation_p.W78*|ACSBG2_ENST00000588485.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	78					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAAAAAGTGGGAAATTCTGA	0.438000													42	89					0	0	0.003610	0	0
FSTL4	23105	broad.mit.edu	37	5	132537632	132537632	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:132537632G>A	ENST00000265342.7	-	15	2068	c.1819C>T	c.(1819-1821)Cac>Tac	p.H607Y	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	607						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCTGATGTGGTTGATGATG	0.572000													20	61					0	0	0.001882	0	0
OTOGL	283310	broad.mit.edu	37	12	80714293	80714293	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:80714293G>A	ENST00000458043.2	+	33	3873	c.3867G>A	c.(3865-3867)gaG>gaA	p.E1289E	OTOGL_ENST00000547103.1_Silent_p.E1289E	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGCTGTGGGAGGCGAATTCAG	0.433000													9	27					0	0	0.004482	0	0
SDPR	8436	broad.mit.edu	37	2	192700700	192700700	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:192700700G>A	ENST00000304141.4	-	2	1556	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	409						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGTCCCCATCGGAGCGCTCCG	0.632000													16	27					0	0	0.004990	0	0
EIF3F	8665	broad.mit.edu	37	11	8008871	8008871	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:8008871C>T	ENST00000537635.1	+	1	435	c.17C>T	c.(16-18)tCc>tTc	p.S6F	EIF3F_ENST00000533626.1_5'UTR|EIF3F_ENST00000309828.4_5'UTR			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	0						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTGTCATTTCCGCTTCCGCC	0.557000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	110					0	0	0.002096	0	0
DSCAM	1826	broad.mit.edu	37	21	41550888	41550888	+	Silent	SNP	G	G	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr21:41550888G>T	ENST00000400454.1	-	15	3390	c.2913C>A	c.(2911-2913)ccC>ccA	p.P971P		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	971	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTCGTTGCTGGGCTCGCTCT	0.602000													15	30					2.32078e-09	5.06599e-09	0.003163	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657244	72657244	+	RNA	SNP	G	G	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:72657244G>T	ENST00000425256.1	-	0	2667					NR_002164.1																						caatcccttgggactagaaga	0.493000													11	27					1.5842e-08	3.44471e-08	0.001855	1	0
PLA2G3	50487	broad.mit.edu	37	22	31535929	31535929	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:31535929C>T	ENST00000215885.3	-	1	664	c.412G>A	c.(412-414)Gga>Aga	p.G138R		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	138					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCAGGGACTCCACTCTGCCCT	0.617000													9	21					0	0	0.006214	0	0
OR10K2	391107	broad.mit.edu	37	1	158390247	158390247	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:158390247C>T	ENST00000314902.2	-	1	409	c.410G>A	c.(409-411)gGa>gAa	p.G137E		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CACCCCATGTCCCATTAGCAC	0.502000													11	57					0	0	0.000978	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800327	74800327	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:74800327C>T	ENST00000305159.3	-	1	472	c.432G>A	c.(430-432)caG>caA	p.Q144Q		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TAGCATTGGTCTGTGGGTTCA	0.542000													14	62					0	0	0.004007	0	0
STK31	56164	broad.mit.edu	37	7	23775395	23775395	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:23775395C>T	ENST00000354639.3	+	7	1117	c.653C>T	c.(652-654)cCt>cTt	p.P218L	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.P218L|STK31_ENST00000355870.3_Missense_Mutation_p.P241L|STK31_ENST00000433467.2_Missense_Mutation_p.P241L	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	241							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.P241H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCCCCATTCCTTTGTGGGGG	0.453000													12	45					0	0	0.001368	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045075	55045075	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:55045075G>A	ENST00000335056.3	+	3	233	c.195G>A	c.(193-195)ggG>ggA	p.G65G																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		AAACAACTGGGACCCGAAGCC	0.527000													3	17					0	0	0.004672	0	0
ATP8A2	51761	broad.mit.edu	37	13	26163813	26163813	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:26163813C>T	ENST00000381655.2	+	24	2329	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.I689I	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	689					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGGCCCTTATCCTATTGAAGG	0.368000													17	58					0	0	0.008871	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883953	105883953	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:105883953G>A	ENST00000393359.2	-	12	2896	c.2470C>T	c.(2470-2472)Ccc>Tcc	p.P824S	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P824S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	824					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCACAAAAGGGATTTTGGCAT	0.468000													19	40					0	0	0.007413	0	0
ZFX	7543	broad.mit.edu	37	X	24229378	24229378	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:24229378C>T	ENST00000379177.1	+	11	2730	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F	ZFX_ENST00000304543.5_Missense_Mutation_p.S768F|ZFX_ENST00000540034.1_Missense_Mutation_p.S807F|ZFX_ENST00000539115.1_Missense_Mutation_p.S539F|ZFX_ENST00000379188.3_Missense_Mutation_p.S768F|ZFX_ENST00000338565.3_Missense_Mutation_p.S718F	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACGTTATTTCCATTCACACG	0.433000													21	50					0	0	0.002299	0	0
SORT1	6272	broad.mit.edu	37	1	109910034	109910034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:109910034G>A	ENST00000256637.6	-	3	494	c.436C>T	c.(436-438)Cga>Tga	p.R146*	SORT1_ENST00000482236.1_5'UTR|SORT1_ENST00000538502.1_Nonsense_Mutation_p.R10*	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	146					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCTCACCTTCGATATAGCTTG	0.388000													69	195					0	0	0.003610	0	0
IL20RA	53832	broad.mit.edu	37	6	137329747	137329747	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:137329747C>T	ENST00000367748.1	-	4	966	c.380G>A	c.(379-381)aGg>aAg	p.R127K	IL20RA_ENST00000541547.1_Missense_Mutation_p.R189K|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.R238K			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	238	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TTTCAAAGTCCTGGCACACTG	0.493000													19	80					0	0	0.002299	0	0
PCSK5	5125	broad.mit.edu	37	9	78907158	78907158	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:78907158G>A	ENST00000545128.1	+	25	3690	c.3152G>A	c.(3151-3153)gGa>gAa	p.G1051E		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	751					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GATGATCCAGGAACATGTACA	0.353000													18	69					0	0	0.007413	0	0
CNTN4	152330	broad.mit.edu	37	3	2967331	2967331	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:2967331C>T	ENST00000397461.1	+	12	1610	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	CNTN4_ENST00000358480.3_Missense_Mutation_p.S190L|CNTN4_ENST00000427331.1_Missense_Mutation_p.S409L|CNTN4_ENST00000397459.2_Missense_Mutation_p.S81L|CNTN4_ENST00000418658.1_Missense_Mutation_p.S409L|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Missense_Mutation_p.S81L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	409	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAGATTTTTCAAGAACACTC	0.368000													24	52					0	0	0.002780	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148287	45148287	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:45148287G>A	ENST00000458659.2	-	1	2414	c.1924C>T	c.(1924-1926)Cca>Tca	p.P642S	TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	642	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ACATGGCCTGGGGCCATCTGT	0.522000													29	95					0	0	0.002445	0	0
OR2T1	26696	broad.mit.edu	37	1	248569888	248569888	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:248569888C>T	ENST00000366474.1	+	1	593	c.593C>T	c.(592-594)tCc>tTc	p.S198F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATAGCAGGTTCCTGGTTTGGG	0.542000													14	48					0	0	0.003163	0	0
LRTM1	57408	broad.mit.edu	37	3	54958664	54958664	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:54958664C>T	ENST00000273286.5	-	2	748	c.586G>A	c.(586-588)Gag>Aag	p.E196K	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.E120K|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	196	LRRCT.					integral to membrane		p.E196K(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ACAAATTTCTCCAGCCAGAGT	0.458000													19	41					0	0	0.008871	0	0
RAG1	5896	broad.mit.edu	37	11	36597229	36597229	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:36597229C>T	ENST00000299440.5	+	2	2487	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	792					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAGACAGTCCCTTCCATAGAT	0.488000									Familial Hemophagocytic Lymphohistiocytosis				16	60					0	0	0.004990	0	0
MIR323B	574410	broad.mit.edu	37	14	101522564	101522564	+	RNA	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:101522564G>A	ENST00000385269.2	+	0	9					NR_036133.1																						CATGGTACTCGGAGGGAGGTT	0.552000													8	20					0	0	0.004482	0	0
OR1E1	8387	broad.mit.edu	37	17	3301484	3301484	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:3301484G>A	ENST00000322608.2	-	1	220	c.221C>T	c.(220-222)tCt>tTt	p.S74F		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GGTCACGGAAGAGAAGCAGAG	0.488000													17	28					0	0	0.004007	0	0
OLFM4	10562	broad.mit.edu	37	13	53603031	53603031	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:53603031G>A	ENST00000219022.2	+	1	138	c.60G>A	c.(58-60)ggG>ggA	p.G20G		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	20					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AAGCTGCAGGGGATTTGGGGG	0.607000													33	95					0	0	0.003755	0	0
SVILP1	645954	broad.mit.edu	37	10	30987215	30987215	+	RNA	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:30987215C>T	ENST00000435645.1	+	0	431																											CTTGAATCTCCTTTCTTCTCC	0.443000													10	28					0	0	0.008291	0	0
KRT222	125113	broad.mit.edu	37	17	38816255	38816255	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:38816255C>T	ENST00000476049.1	-	3	471	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	KRT222_ENST00000394052.3_Missense_Mutation_p.E144K			Q8N1A0	KT222_HUMAN	keratin 222	144						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCTTCTTTTTCTAGGAGGTGG	0.423000													17	71					0	0	0.007413	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157474	26157474	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:26157474G>A	ENST00000325250.1	+	2	559	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	124	MAGE.						protein binding	p.T124T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGTATGAAACGAAAGAGCCAA	0.423000													4	6					0	0	0.000248	0	0
APOB	338	broad.mit.edu	37	2	21225588	21225588	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:21225588G>A	ENST00000233242.1	-	29	12833	c.12706C>T	c.(12706-12708)Cat>Tat	p.H4236Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4236					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)	GAACCATTATGGACTTTCGAA	0.408000													113	295					0	0	0.003610	0	0
ME1	4199	broad.mit.edu	37	6	84025057	84025057	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:84025057C>T	ENST00000369705.3	-	6	792	c.676G>A	c.(676-678)Gac>Aac	p.D226N	ME1_ENST00000543031.1_Missense_Mutation_p.D151N|ME1_ENST00000541327.1_Missense_Mutation_p.D60N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	226					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ATGAATTCGTCCAAAAAATCA	0.303000													19	50					0	0	0.002299	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654055	46654055	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:46654055G>A	ENST00000253255.5	-	1	5164	c.5165C>T	c.(5164-5166)gCc>gTc	p.A1722V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1722					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CAACAGAAGGGCTAGAAAGAT	0.378000													9	24					0	0	0.001368	0	0
MYOM2	9172	broad.mit.edu	37	8	2017587	2017587	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:2017587C>T	ENST00000262113.4	+	8	905	c.764C>T	c.(763-765)cCa>cTa	p.P255L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	255					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GACGAGGAACCATTCCGTTCG	0.507000													31	83					0	0	0.004289	0	0
POF1B	79983	broad.mit.edu	37	X	84614582	84614582	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:84614582C>T	ENST00000262753.4	-	4	556	c.411G>A	c.(409-411)agG>agA	p.R137R	POF1B_ENST00000373145.3_Silent_p.R137R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	137							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTACATATTTCCTAATAGTGG	0.308000													21	47					0	0	0.003330	0	0
TBL3	10607	broad.mit.edu	37	16	2025386	2025386	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:2025386C>T	ENST00000568546.1	+	9	880	c.752C>T	c.(751-753)tCc>tTc	p.S251F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	251					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAGCCAGTGTCCCAGCTGGGT	0.637000													25	62					0	0	0.006320	0	0
DLL4	54567	broad.mit.edu	37	15	41228536	41228536	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:41228536C>T	ENST00000249749.5	+	9	1627	c.1351C>T	c.(1351-1353)Cac>Tac	p.H451Y		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	451	EGF-like 7.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCTTGCGCCCACGGTGGCAC	0.637000													4	10					0	0	0.000248	0	0
USH2A	7399	broad.mit.edu	37	1	215990482	215990482	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:215990482A>T	ENST00000366943.2	-	48	9813	c.9427T>A	c.(9427-9429)Tat>Aat	p.Y3143N	USH2A_ENST00000307340.3_Missense_Mutation_p.Y3143N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3143	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGAGATCATATCCAAGAATG	0.408000										HNSCC(13;0.011)			17	39					0	0	0.007413	0	0
FOSB	2354	broad.mit.edu	37	19	45976038	45976038	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:45976038C>T	ENST00000353609.3	+	4	1377	c.785C>T	c.(784-786)cCg>cTg	p.P262L	FOSB_ENST00000592811.1_Intron|FOSB_ENST00000443841.2_Missense_Mutation_p.P119L|FOSB_ENST00000585836.1_Missense_Mutation_p.P187L|FOSB_ENST00000592436.1_Intron|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000586615.1_Missense_Mutation_p.P213L|FOSB_ENST00000591858.1_Missense_Mutation_p.P223L|FOSB_ENST00000417353.2_Missense_Mutation_p.P226L	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	262					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CCGCCACCACCGCCCCTGCCC	0.672000													5	14					0	0	0.000602	0	0
KIAA1549	57670	broad.mit.edu	37	7	138583700	138583700	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:138583700C>T	ENST00000440172.1	-	9	3896		c.e9+1		KIAA1549_ENST00000422774.1_Splice_Site|KIAA1549_ENST00000242365.4_Splice_Site	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549							integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGGCACTTACGCTGGGCAAT	0.512000			O	BRAF	pilocytic astrocytoma								14	64					0	0	0.002450	0	0
KAT6B	23522	broad.mit.edu	37	10	76788814	76788814	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:76788814A>G	ENST00000287239.4	+	18	4721	c.4232A>G	c.(4231-4233)gAg>gGg	p.E1411G	KAT6B_ENST00000372711.1_Missense_Mutation_p.E1228G|KAT6B_ENST00000372724.1_Missense_Mutation_p.E1119G|KAT6B_ENST00000372714.1_Missense_Mutation_p.E1119G|KAT6B_ENST00000372725.1_Missense_Mutation_p.E1119G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1411	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CACGAAGAGGAGGAGGAAGAG	0.493000													7	32					0	0	0.001984	0	0
NUP188	23511	broad.mit.edu	37	9	131760848	131760848	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:131760848G>A	ENST00000372577.2	+	32	3482	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1154					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AACTGCCTTCGCCTTGGCTCC	0.582000													21	50					0	0	0.004656	0	0
B3GNT4	79369	broad.mit.edu	37	12	122689220	122689220	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:122689220C>T	ENST00000324189.4	+	2	411	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Intron|B3GNT4_ENST00000535274.1_5'UTR	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	19					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TAGGAGTGGCCTTTTACCAAA	0.642000													4	24					0	0	0.000248	0	0
LHCGR	3973	broad.mit.edu	37	2	48915099	48915099	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:48915099G>A	ENST00000294954.7	-	11	1858	c.1837C>T	c.(1837-1839)Ccc>Tcc	p.P613S	LHCGR_ENST00000405626.1_Missense_Mutation_p.P586S|LHCGR_ENST00000344775.3_Missense_Mutation_p.P551S|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	613					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GAATTGATGGGATAAAAAAGA	0.383000													17	34					0	0	0.006122	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849442	106849442	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:106849442G>A	ENST00000526355.1	-	3	858	c.390C>T	c.(388-390)ttC>ttT	p.F130F	GUCY1A2_ENST00000282249.2_Silent_p.F130F|GUCY1A2_ENST00000347596.2_Silent_p.F130F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	130					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGATATTGTGGAAATTCTTTT	0.368000													8	18					0	0	0.006214	0	0
DNAH10	196385	broad.mit.edu	37	12	124270429	124270429	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:124270429C>T	ENST00000409039.3	+	9	1209	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	395	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGCGCATCGCCTGGGAAATC	0.507000													15	41					0	0	0.007413	0	0
CGNL1	84952	broad.mit.edu	37	15	57731224	57731224	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:57731224C>T	ENST00000281282.5	+	2	1105	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	343	Head.					myosin complex|tight junction	motor activity	p.R343W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGGAACTGGACGGGATATTGA	0.438000													9	33					0	0	0.004482	0	0
ZNF121	7675	broad.mit.edu	37	19	9677528	9677528	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:9677528G>A	ENST00000586602.1	-	6	677	c.261C>T	c.(259-261)tcC>tcT	p.S87S	ZNF121_ENST00000320451.6_Silent_p.S87S			P58317	ZN121_HUMAN	zinc finger protein 121	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TGTATTCAAAGGATTTGTCTC	0.448000													6	44					0	0	0.001168	0	0
ASPM	259266	broad.mit.edu	37	1	197073963	197073963	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:197073963G>A	ENST00000367409.4	-	18	4674	c.4418C>T	c.(4417-4419)tCa>tTa	p.S1473L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1473					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCTATACCATGATTGTATGAT	0.294000													7	19					0	0	0.001984	0	0
PNPLA6	10908	broad.mit.edu	37	19	7625926	7625926	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:7625926C>T	ENST00000221249.6	+	33	4160	c.3729C>T	c.(3727-3729)ttC>ttT	p.F1243F	PNPLA6_ENST00000600737.1_Silent_p.F1281F|PNPLA6_ENST00000545201.2_Silent_p.F1216F|PNPLA6_ENST00000450331.3_Silent_p.F1243F|PNPLA6_ENST00000414982.3_Silent_p.F1291F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1282					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTCTGGCTTCACTGACTTGG	0.652000													3	11					0	0	0.004672	0	0
FAM135B	51059	broad.mit.edu	37	8	139164360	139164360	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:139164360C>T	ENST00000395297.1	-	13	2528	c.2358G>A	c.(2356-2358)gcG>gcA	p.A786A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	786										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCTTGGTGTCCGCATCTTCAG	0.517000										HNSCC(54;0.14)			11	29					0	0	0.008291	0	0
XIRP2	129446	broad.mit.edu	37	2	168101234	168101234	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:168101234C>T	ENST00000409195.1	+	9	3421	c.3332C>T	c.(3331-3333)tCg>tTg	p.S1111L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1111L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S889L|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	936					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						GAAAAAGTTTCGTTAATGACC	0.368000													13	17					0	0	0.002450	0	0
DNAH2	146754	broad.mit.edu	37	17	7701005	7701005	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:7701005C>T	ENST00000572933.1	+	53	9548	c.8088C>T	c.(8086-8088)ttC>ttT	p.F2696F	DNAH2_ENST00000389173.2_Silent_p.F2696F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2696					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGGGGATTTCCTGAAGGAGC	0.542000													19	62					0	0	0.008871	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171193	150171193	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:150171193G>A	ENST00000307271.3	+	4	1350	c.776G>A	c.(775-777)gGa>gAa	p.G259E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	259						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CGCGGTGCTGGAAAAAGTGCA	0.567000													41	52					0	0	0.008740	0	0
MUC16	94025	broad.mit.edu	37	19	9089115	9089115	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:9089115G>A	ENST00000397910.4	-	1	2903	c.2700C>T	c.(2698-2700)acC>acT	p.T900T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	900	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGTCCATGGTGGGGAATA	0.512000													7	15					0	0	0.001984	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260907	30260907	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:30260907G>A	ENST00000378982.2	+	1	851	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	219	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCGTGAAGAGGAAATCTGGGA	0.498000													21	54					0	0	0.002299	0	0
DNER	92737	broad.mit.edu	37	2	230450683	230450683	+	Silent	SNP	T	T	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:230450683T>A	ENST00000341772.4	-	4	872	c.738A>T	c.(736-738)ggA>ggT	p.G246G	DNER_ENST00000482831.1_5'UTR	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	246					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACTGTTGGAATCCTGTGGCCG	0.522000													8	32					0	0	0.004482	0	0
NOS1	4842	broad.mit.edu	37	12	117660623	117660623	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:117660623G>A	ENST00000317775.6	-	26	4557	c.3872C>T	c.(3871-3873)tCc>tTc	p.S1291F	NOS1_ENST00000338101.4_Missense_Mutation_p.S1325F|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1291					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCTATCTTGGATTGCCGGCA	0.567000													26	54					0	0	0.004656	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118383596	118383596	+	RNA	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:118383596C>T	ENST00000537242.1	+	0	216				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AAATGAAAATCCAAACAACTT	0.498000													14	51					0	0	0.001855	0	0
C4orf51	646603	broad.mit.edu	37	4	146617735	146617735	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:146617735C>T	ENST00000438731.1	+	2	258	c.258C>T	c.(256-258)gcC>gcT	p.A86A		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	86										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						ACAGTTCTGCCTGTCATCTTC	0.433000													13	29					0	0	0.002450	0	0
CYP4X1	260293	broad.mit.edu	37	1	47512139	47512139	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:47512139G>A	ENST00000371901.3	+	9	1324	c.1073_splice	c.e9-1	p.W358_splice	CYP4X1_ENST00000538609.1_Splice_Site_p.W357_splice	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	358						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATCCTCACAGGGACCAGCTGG	0.473000													8	36					0	0	0.006214	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180902	142180902	+	RNA	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:142180902C>T	ENST00000390368.2	-	0	114																											CAGGACCCACCTGCCCACAGG	0.577000													29	27					0	0	0.008361	0	0
NXPE4	54827	broad.mit.edu	37	11	114450878	114450878	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:114450878C>T	ENST00000375478.3	-	5	1255	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	NXPE4_ENST00000424261.2_Missense_Mutation_p.E75K	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TTGAAGTATTCCATCCACTGG	0.418000													25	89					0	0	0.002096	0	0
TACC2	10579	broad.mit.edu	37	10	123846584	123846584	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:123846584C>T	ENST00000369005.1	+	4	4909	c.4569C>T	c.(4567-4569)ccC>ccT	p.P1523P	TACC2_ENST00000453444.2_Silent_p.P1523P|TACC2_ENST00000334433.3_Silent_p.P1523P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.P1523P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.P1523P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1523						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)				GTGTCCCACCCACACTGAGGG	0.632000													10	26					0	0	0.001855	0	0
PDGFRA	5156	broad.mit.edu	37	4	55129930	55129930	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:55129930C>T	ENST00000257290.5	+	4	795	c.464C>T	c.(463-465)cCc>cTc	p.P155L	PDGFRA_ENST00000508170.1_Missense_Mutation_p.P155L|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	155	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACAACTGATCCCGAGACTCCT	0.493000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			20	42					0	0	0.008871	0	0
VSTM4	196740	broad.mit.edu	37	10	50315757	50315757	+	Silent	SNP	G	G	A	rs151199777	byFrequency	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:50315757G>A	ENST00000332853.3	-	2	362	c.339C>T	c.(337-339)tcC>tcT	p.S113S	VSTM4_ENST00000298454.3_Silent_p.S113S	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	113	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GTGTCAAGACGGAGAGCCTGT	0.622000													22	46					0	0	0.003954	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681008	106681008	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:106681008C>T	ENST00000526355.1	-	5	1871	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R468K|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R489K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	468					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTTATCCATCCTTTTCTTCAA	0.453000													11	41					0	0	0.000978	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170163	107170163	+	RNA	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:107170163G>A	ENST00000390633.2	-	0	179																											AGCCTTGCAGGAGACCTTCAC	0.592000													10	37					0	0	0.008291	0	0
IHH	3549	broad.mit.edu	37	2	219920030	219920030	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:219920030C>T	ENST00000295731.5	-	3	1134	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	379					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCACACCCTCCCCCGGAGTC	0.657000													6	10					0	0	0.001168	0	0
OR4C3	256144	broad.mit.edu	37	11	48347042	48347042	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:48347042C>T	ENST00000319856.4	+	1	571	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCATTGGTTCAGCTCCTCCT	0.527000													14	58					0	0	0.002450	0	0
PRKCQ	5588	broad.mit.edu	37	10	6520992	6520992	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:6520992G>A	ENST00000263125.5	-	12	1414	c.1315C>T	c.(1315-1317)Ccg>Tcg	p.P439S	PRKCQ_ENST00000397176.2_Missense_Mutation_p.P439S|PRKCQ_ENST00000539722.1_Missense_Mutation_p.P314S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	439	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GTCAGAAACGGATGCTCCCAG	0.473000													8	26					0	0	0.004482	0	0
REPS2	9185	broad.mit.edu	37	X	17152027	17152027	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:17152027G>A	ENST00000357277.3	+	15	1830	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K	REPS2_ENST00000303843.7_Silent_p.K552K|REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Silent_p.K352K	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	553	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GTCCAGCAAAGAAGGTAAGGT	0.512000													25	78					0	0	0.003954	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606203	84606203	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:84606203C>T	ENST00000344803.2	+	4	865	c.818C>T	c.(817-819)tCa>tTa	p.S273L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ACCATCTTTTCATTTGGCTCC	0.512000													76	182					0	0	0.003610	0	0
NHS	4810	broad.mit.edu	37	X	17744574	17744574	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:17744574G>A	ENST00000380060.3	+	6	2623	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	NHS_ENST00000398097.3_Missense_Mutation_p.G606E	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	762						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GACACGGAAGGATACTATACC	0.493000													23	76					0	0	0.002299	0	0
EPHA4	2043	broad.mit.edu	37	2	222307622	222307622	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:222307622G>A	ENST00000281821.2	-	11	2042	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	EPHA4_ENST00000409938.1_Silent_p.F667F|EPHA4_ENST00000409854.1_Silent_p.F667F|EPHA4_ENST00000392071.4_Silent_p.F616F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	667	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCTCACTCAGGAAGTCTCTCC	0.498000													24	54					0	0	0.004656	0	0
PAPSS2	9060	broad.mit.edu	37	10	89468991	89468991	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:89468991C>T	ENST00000361175.4	+	2	435	c.66C>T	c.(64-66)gcC>gcT	p.A22A	PAPSS2_ENST00000456849.1_Silent_p.A22A|PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000427144.2_Silent_p.A26A	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	22					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TCTATCAGGCCCACCATGTGA	0.418000													9	27					0	0	0.000978	0	0
ABCA2	20	broad.mit.edu	37	9	139912350	139912350	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:139912350G>A	ENST00000265662.5	-	16	2247	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	ABCA2_ENST00000341511.6_Silent_p.F700F|ABCA2_ENST00000371605.3_Silent_p.F699F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	699					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGACAAACAGGAAGCTGCGGG	0.657000													6	10					0	0	0.001168	0	0
ALG13	79868	broad.mit.edu	37	X	110971527	110971527	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:110971527G>A	ENST00000394780.3	+	19	2374	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	ALG13_ENST00000251943.4_Missense_Mutation_p.E684K|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	788					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TGGCCAGAGTGAAAATGGTGA	0.428000													5	24					0	0	0.000602	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43873490	43873490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:43873490G>A	ENST00000420765.1	-	9	1056	c.874C>T	c.(874-876)Cga>Tga	p.R292*	PPIP5K1_ENST00000381879.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000381885.1_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000360301.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000348806.6_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000360135.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000334933.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000396923.3_Nonsense_Mutation_p.R292*	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	292					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.R292*(1)		large_intestine(1)	1						ACTGGATATCGAATCTCTTTC	0.512000													33	98					0	0	0.004289	0	0
LPHN2	23266	broad.mit.edu	37	1	82447542	82447542	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:82447542G>T	ENST00000370728.1	+	21	3797	c.3152G>T	c.(3151-3153)tGg>tTg	p.W1051L	LPHN2_ENST00000394879.1_Missense_Mutation_p.W1053L|LPHN2_ENST00000319517.6_Missense_Mutation_p.W1038L|LPHN2_ENST00000335786.5_Missense_Mutation_p.W1051L|LPHN2_ENST00000370721.1_Missense_Mutation_p.W976L|LPHN2_ENST00000370725.1_Missense_Mutation_p.W1066L|LPHN2_ENST00000370717.2_Missense_Mutation_p.W1066L|LPHN2_ENST00000271029.4_Missense_Mutation_p.W1066L|LPHN2_ENST00000370715.1_Missense_Mutation_p.W1038L|LPHN2_ENST00000359929.3_Missense_Mutation_p.W1038L|LPHN2_ENST00000370723.1_Missense_Mutation_p.W1053L|LPHN2_ENST00000370713.1_Missense_Mutation_p.W1038L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.W1066L|LPHN2_ENST00000370730.1_Missense_Mutation_p.W1051L			O95490	LPHN2_HUMAN	latrophilin 2	1051					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCCTCACCTGGTCCTTTGGG	0.398000													11	157					3.07112e-06	6.63929e-06	0.000978	1	0
FAM47C	442444	broad.mit.edu	37	X	37029243	37029243	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:37029243G>A	ENST00000358047.3	+	1	2812	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	920										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTTGGACGGGAAAATCCAGA	0.453000													12	50					0	0	0.001368	0	0
MRPL4	51073	broad.mit.edu	37	19	10370360	10370360	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:10370360G>A	ENST00000253099.6	+	9	1094	c.807G>A	c.(805-807)ctG>ctA	p.L269L	MRPL4_ENST00000393733.2_3'UTR|MRPL4_ENST00000307422.5_Silent_p.L269L|CTD-2369P2.4_ENST00000587088.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	269					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TCGCCTTCCTGGAGGACAAGC	0.682000													7	15					0	0	0.004482	0	0
PTPRB	5787	broad.mit.edu	37	12	70928384	70928384	+	Silent	SNP	C	C	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:70928384C>G	ENST00000334414.6	-	31	6296	c.6252G>C	c.(6250-6252)acG>acC	p.T2084T	RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000538708.1_Silent_p.T1776T|PTPRB_ENST00000550358.1_Silent_p.T1996T|PTPRB_ENST00000550857.1_Silent_p.T1776T|PTPRB_ENST00000261266.5_Silent_p.T1866T|PTPRB_ENST00000451516.2_Silent_p.T1776T|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1866					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)			CTGGCCACACCGTATAGTGAA	0.517000													4	11					0	0	0.001168	0	0
PRB1	5542	broad.mit.edu	37	12	11506726	11506726	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:11506726C>T	ENST00000500254.2	-	3	348	c.311G>A	c.(310-312)gGa>gAa	p.G104E	PRB1_ENST00000546254.1_Missense_Mutation_p.G104E|PRB1_ENST00000545626.1_Missense_Mutation_p.G104E	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	287	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGTTACCTCCTTGTGGGGG	0.622000													53	541					0	0	0.003610	0	0
SELP	6403	broad.mit.edu	37	1	169586410	169586410	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:169586410C>T	ENST00000263686.6	-	3	374	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SELP_ENST00000458599.2_Missense_Mutation_p.E113K|SELP_ENST00000367793.2_Missense_Mutation_p.E113K|SELP_ENST00000367792.2_Missense_Mutation_p.E113K|SELP_ENST00000367786.2_Missense_Mutation_p.E113K|SELP_ENST00000367788.2_Missense_Mutation_p.E113K|SELP_ENST00000367794.2_Missense_Mutation_p.E113K|SELP_ENST00000367791.2_Missense_Mutation_p.E113K	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	113	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTCTCAGCCTCGTTGGTGAGA	0.483000													24	102					0	0	0.002780	0	0
COL11A2	1302	broad.mit.edu	37	6	33136349	33136349	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:33136349C>T	ENST00000341947.2	-	54	4134	c.3906_splice	c.e54-1	p.G1303_splice	COL11A2_ENST00000374712.1_Splice_Site_p.G1222_splice|COL11A2_ENST00000374708.4_Splice_Site_p.G1217_splice|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Splice_Site_p.G1282_splice|COL11A2_ENST00000374714.1_Splice_Site_p.G1277_splice|COL11A2_ENST00000361917.1_Splice_Site_p.G1196_splice|COL11A2_ENST00000395197.1_Splice_Site_p.G1243_splice|COL11A2_ENST00000374713.1_Splice_Site_p.G1256_splice	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1303	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCAGGGGATCCCTAGGGAGAG	0.617000													14	11					0	0	0.003163	0	0
ATP13A4	84239	broad.mit.edu	37	3	193174907	193174907	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:193174907G>A	ENST00000342695.4	-	16	2119	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	ATP13A4_ENST00000392443.3_Silent_p.F580F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	599					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGAGAATGGGAACTGATGCA	0.512000													13	55					0	0	0.002450	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33569401	33569401	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:33569401C>T	ENST00000321505.4	+	3	2766	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	KIAA1549L_ENST00000265654.5_Silent_p.F868F|KIAA1549L_ENST00000389726.3_Silent_p.F868F					KIAA1549-like																		GGAAGGCTTTCCACCAGAACG	0.463000													4	15					0	0	0.000248	0	0
TMCO3	55002	broad.mit.edu	37	13	114201630	114201630	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:114201630C>T	ENST00000434316.2	+	11	2065	c.1706C>T	c.(1705-1707)cCc>cTc	p.P569L	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	569						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CACGTGTTCCCCACGTTTGTG	0.572000													6	29					0	0	0.004482	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156910128	156910128	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:156910128C>T	ENST00000368194.3	-	36	4643	c.3604G>A	c.(3604-3606)Ggt>Agt	p.G1202S	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G578S|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.G1162S	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1162					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCAGGACACCCAGTTCCTCT	0.602000													6	29					0	0	0.001168	0	0
GPR101	83550	broad.mit.edu	37	X	136113428	136113428	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:136113428G>A	ENST00000298110.1	-	1	405	c.406C>T	c.(406-408)Cct>Tct	p.P136S		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	136						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TAGGAGAGAGGGTGGATGATG	0.597000													4	18					0	0	0.000602	0	0
ENPP5	59084	broad.mit.edu	37	6	46135775	46135775	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:46135775G>A	ENST00000371383.2	-	3	485	c.225C>T	c.(223-225)aaC>aaT	p.N75N	ENPP5_ENST00000230565.3_Silent_p.N75N			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	75						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AAGTATAATGGTTAGGGTAGG	0.343000													17	20					0	0	0.004007	0	0
FAM135B	51059	broad.mit.edu	37	8	139164359	139164359	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:139164359C>G	ENST00000395297.1	-	13	2529	c.2359G>C	c.(2359-2361)Gac>Cac	p.D787H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787								p.D787Y(2)|p.D787N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCTTGGTGTCCGCATCTTCA	0.522000										HNSCC(54;0.14)			11	29					0	0	0.008291	0	0
SCN10A	6336	broad.mit.edu	37	3	38798212	38798212	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:38798212C>T	ENST00000449082.2	-	9	1242	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	415					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AACTTCTTCTCCTTTGCTTCA	0.507000													27	67					0	0	0.005443	0	0
KCNG4	93107	broad.mit.edu	37	16	84256066	84256066	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:84256066G>A	ENST00000308251.4	-	3	1385	c.1317C>T	c.(1315-1317)atC>atT	p.I439I		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	439						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCCCGCTCAGGATGCTGCTGA	0.617000													23	47					0	0	0.002780	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333798	35333798	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:35333798C>T	ENST00000278379.3	-	4	790	c.508G>A	c.(508-510)Gac>Aac	p.D170N	SLC1A2_ENST00000606205.1_Missense_Mutation_p.D170N|SLC1A2_ENST00000395750.1_Missense_Mutation_p.D161N|SLC1A2_ENST00000395753.1_Missense_Mutation_p.D161N	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	170					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CGAATAAGGTCCAGGAAGGCA	0.488000													41	102					0	0	0.008740	0	0
CSMD1	64478	broad.mit.edu	37	8	3611552	3611552	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:3611552C>T	ENST00000602557.1	-	6	1386	c.831G>A	c.(829-831)atG>atA	p.M277I	CSMD1_ENST00000602723.1_Missense_Mutation_p.M277I|CSMD1_ENST00000400186.3_Missense_Mutation_p.M277I|CSMD1_ENST00000542608.1_Missense_Mutation_p.M277I|CSMD1_ENST00000520002.1_Missense_Mutation_p.M277I|CSMD1_ENST00000539096.1_Missense_Mutation_p.M277I|CSMD1_ENST00000537824.1_Missense_Mutation_p.M277I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	277	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGGGAGGTTCATGCCAGTTA	0.443000													7	21					0	0	0.003080	0	0
PGK1	5230	broad.mit.edu	37	X	77378785	77378785	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:77378785G>C	ENST00000373316.4	+	8	1017	c.850G>C	c.(850-852)Gtt>Ctt	p.V284L	PGK1_ENST00000442431.1_Missense_Mutation_p.V148L|PGK1_ENST00000537456.1_Missense_Mutation_p.V256L	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	284					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TACCTTGCCTGTTGACTTTGT	0.473000													10	28					0	0	0.000978	0	0
PMFBP1	83449	broad.mit.edu	37	16	72166868	72166868	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:72166868A>C	ENST00000537465.1	-	10	1384	c.1226T>G	c.(1225-1227)aTg>aGg	p.M409R	PMFBP1_ENST00000355636.6_Missense_Mutation_p.M264R|PMFBP1_ENST00000237353.10_Missense_Mutation_p.M409R			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	409										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCTTGCAGCATCTCATCTTT	0.498000													18	57					0	0	0.008871	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609396	84609396	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:84609396C>T	ENST00000344803.2	+	4	4058	c.4011C>T	c.(4009-4011)tcC>tcT	p.S1337S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GCAAATCTTCCCCAACCTTGA	0.478000													3	17					0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100682054	100682054	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:100682054G>A	ENST00000306151.4	+	3	7421	c.7357G>A	c.(7357-7359)Gaa>Aaa	p.E2453K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2453	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTCCTAGTGAAGGAACCAC	0.537000													121	210					0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	35					0	0	0.007835	0	0
GNAI3	2773	broad.mit.edu	37	1	110128924	110128924	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:110128924C>T	ENST00000369851.4	+	6	787	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	226					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TTCTGTGTGGCCCTCAGTGAT	0.448000													28	99					0	0	0.001786	0	0
CT47B1	643311	broad.mit.edu	37	X	120009239	120009239	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:120009239C>T	ENST00000371311.3	-	1	540	c.286G>A	c.(286-288)Gag>Aag	p.E96K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	96	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						tcttcctcctcctcctcttcc	0.697000													6	13					0	0	0.001168	0	0
UGCG	7357	broad.mit.edu	37	9	114688773	114688773	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:114688773G>T	ENST00000374279.3	+	5	1005	c.555G>T	c.(553-555)gaG>gaT	p.E185D	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	185					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CCACCTTAGAGCAGGTGAGTA	0.448000													10	34					7.48243e-07	1.62385e-06	0.006214	1	0
APLP1	333	broad.mit.edu	37	19	36370283	36370283	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:36370283C>T	ENST00000221891.4	+	17	2088	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R	APLP1_ENST00000586861.1_Silent_p.R625R|APLP1_ENST00000537454.2_Silent_p.R592R	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	631					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAGCTCCGCGAACTGCAGC	0.672000													17	55					0	0	0.008871	0	0
ENDOV	284131	broad.mit.edu	37	17	78399410	78399410	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:78399410C>T	ENST00000518137.1	+	7	732	c.704C>T	c.(703-705)cCc>cTc	p.P235L	ENDOV_ENST00000518901.1_Missense_Mutation_p.P41L|ENDOV_ENST00000323854.5_Missense_Mutation_p.P190L|ENDOV_ENST00000520367.1_Missense_Mutation_p.P190L|ENDOV_ENST00000517795.1_Missense_Mutation_p.P41L|ENDOV_ENST00000520284.1_Missense_Mutation_p.P41L|ENDOV_ENST00000522751.1_Missense_Mutation_p.P41L|ENDOV_ENST00000517295.2_Missense_Mutation_p.P163L|ENDOV_ENST00000518907.1_Missense_Mutation_p.P41L	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	235					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						ATCCCAGAGCCCGTGCGCCAG	0.682000								Direct reversal of damage					3	5					0	0	0.000248	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500709	27500709	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:27500709G>A	ENST00000296097.3	+	4	619	c.201G>A	c.(199-201)ggG>ggA	p.G67G	DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Silent_p.G51G|DNAJC5G_ENST00000402462.1_Silent_p.G67G	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	67	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAATCCAGGGAATGCTCAAG	0.502000													22	31					0	0	0.001523	0	0
BSN	8927	broad.mit.edu	37	3	49689186	49689186	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:49689186C>T	ENST00000296452.4	+	5	2311	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	733					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCATGCGGCCTTTGCTGCA	0.657000													11	25					0	0	0.008291	0	0
MMRN1	22915	broad.mit.edu	37	4	90816646	90816646	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:90816646G>A	ENST00000394980.1	+	2	843	c.524G>A	c.(523-525)gGa>gAa	p.G175E	MMRN1_ENST00000264790.2_Missense_Mutation_p.G175E|MMRN1_ENST00000394981.1_Missense_Mutation_p.G141E			Q13201	MMRN1_HUMAN	multimerin 1	175					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ggaggcGTGGGAAATCGAGCC	0.498000													6	25					0	0	0.001984	0	0
NWD1	284434	broad.mit.edu	37	19	16875863	16875863	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:16875863C>T	ENST00000524140.2	+	10	2688	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	NWD1_ENST00000523826.1_Missense_Mutation_p.S551F|NWD1_ENST00000379808.3_Missense_Mutation_p.S757F|NWD1_ENST00000552788.1_Missense_Mutation_p.S757F|NWD1_ENST00000339803.6_Missense_Mutation_p.S622F|NWD1_ENST00000549814.1_Missense_Mutation_p.S757F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	757							ATP binding	p.S622F(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTGGATTTCCTGCCGGGGC	0.597000													14	31					0	0	0.006122	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319580	21319580	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:21319580C>T	ENST00000583088.1	+	3	1821	c.926C>T	c.(925-927)aCc>aTc	p.T309I	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T309I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		ACAGCCATGACCACCCAGGCC	0.607000										Prostate(3;0.18)			10	95					0	0	0.006214	0	0
ATRX	546	broad.mit.edu	37	X	76849222	76849222	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:76849222C>T	ENST00000373344.5	-	26	6268	c.6054G>A	c.(6052-6054)ggG>ggA	p.G2018G	ATRX_ENST00000395603.3_Silent_p.G1980G|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2018					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTACCATTTTCCCAGAATGCT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						13	31					0	0	0.002450	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826465	43826465	+	Missense_Mutation	SNP	G	G	A	rs150670741		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:43826465G>A	ENST00000389420.3	-	20	2869	c.2870C>T	c.(2869-2871)aCc>aTc	p.T957I	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.T111I|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T957I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	957	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGTTCTTGGGTAGGAGGTTT	0.398000													18	37					0	0	0.006122	0	0
ASTN1	460	broad.mit.edu	37	1	177001814	177001814	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:177001814C>T	ENST00000367654.2	-	3	656	c.643G>A	c.(643-645)Gag>Aag	p.E215K	ASTN1_ENST00000367657.3_Missense_Mutation_p.E215K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E215K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.E215K			O14525	ASTN1_HUMAN	astrotactin 1	215					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGCAGGCTCTCCCGTCCGTGC	0.617000													10	25					0	0	0.008291	0	0
SPEN	23013	broad.mit.edu	37	1	16262741	16262741	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:16262741C>T	ENST00000375759.3	+	11	10210	c.10006C>T	c.(10006-10008)Cgg>Tgg	p.R3336W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3336	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTGCCTTCCCGGACCAAGAC	0.602000													5	13					0	0	0.001984	0	0
XAB2	56949	broad.mit.edu	37	19	7692201	7692201	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:7692201G>A	ENST00000358368.4	-	4	487	c.450C>T	c.(448-450)ccC>ccT	p.P150P	XAB2_ENST00000534844.1_Silent_p.P147P	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	150					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCAGATACAGGGGCCAAATTC	0.652000								Direct reversal of damage;Nucleotide excision repair (NER)					6	19					0	0	0.001984	0	0
ZNF354C	30832	broad.mit.edu	37	5	178504160	178504160	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:178504160C>T	ENST00000315475.6	+	4	549	c.243C>T	c.(241-243)acC>acT	p.T81T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CTTCAGATACCCGTCTAGGTA	0.463000													8	25					0	0	0.004482	0	0
GPR39	2863	broad.mit.edu	37	2	133402767	133402767	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:133402767C>T	ENST00000329321.3	+	2	1419	c.950C>T	c.(949-951)tCc>tTc	p.S317F	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	317						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGACGAGGTCCTACTTCCGG	0.582000													13	27					0	0	0.001855	0	0
LRP1	4035	broad.mit.edu	37	12	57600328	57600328	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:57600328C>T	ENST00000243077.3	+	76	12129	c.11663C>T	c.(11662-11664)tCg>tTg	p.S3888L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3888					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCCCCATTCGGCTTACGAG	0.587000													14	28					0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141267510	141267510	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:141267510G>A	ENST00000389484.3	-	52	9356	c.8385C>T	c.(8383-8385)tcC>tcT	p.S2795S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2795	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCCTGCTGTGGAAAGCTCAT	0.512000										TSP Lung(27;0.18)			26	57					0	0	0.006320	0	0
VPS13A	23230	broad.mit.edu	37	9	79835234	79835234	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:79835234G>T	ENST00000360280.3	+	12	1184	c.924G>T	c.(922-924)atG>atT	p.M308I	VPS13A_ENST00000376636.3_Missense_Mutation_p.M308I|VPS13A_ENST00000376634.4_Missense_Mutation_p.M308I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M308I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	308					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTGATATGATGGCACAAAATC	0.318000													9	20					2.17888e-05	4.69232e-05	0.006214	1	0
SPEF2	79925	broad.mit.edu	37	5	35628589	35628589	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:35628589C>T	ENST00000440995.2	+	2	86	c.86C>T	c.(85-87)tCc>tTc	p.S29F	SPEF2_ENST00000509059.1_Missense_Mutation_p.S29F|SPEF2_ENST00000356031.3_Missense_Mutation_p.S29F|SPEF2_ENST00000282469.6_Missense_Mutation_p.S29F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	29	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGCATTTTCCAGTGGCTAT	0.348000													16	46					0	0	0.004990	0	0
ITPR1	3708	broad.mit.edu	37	3	4856869	4856869	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:4856869G>A	ENST00000302640.8	+	58	8139	c.7789G>A	c.(7789-7791)Gaa>Aaa	p.E2597K	AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2564K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E2564K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E2597K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E2597K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2549K|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000441894.1_Intron|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.E575K	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2612					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCAGAAGAAGGAAGAGATCTT	0.493000													10	25					0	0	0.006214	0	0
CPXM2	119587	broad.mit.edu	37	10	125521433	125521433	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:125521433C>T	ENST00000241305.3	-	11	1886	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	578					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGCCCTCCTCCTTCTGGAAG	0.667000													5	18					0	0	0.000602	0	0
OR4K14	122740	broad.mit.edu	37	14	20483272	20483272	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:20483272G>A	ENST00000305045.2	-	1	80	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAAATATAAAGAAAAAATTTT	0.423000													6	14					0	0	0.001168	0	0
TM9SF1	10548	broad.mit.edu	37	14	24658688	24658688	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:24658688C>T	ENST00000561419.1	-	2	363	c.364G>A	c.(364-366)Gca>Aca	p.A122T	TM9SF1_ENST00000261789.4_Missense_Mutation_p.G585D|TM9SF1_ENST00000556387.1_Missense_Mutation_p.G794D|TM9SF1_ENST00000528669.1_Missense_Mutation_p.G568D|TM9SF1_ENST00000530611.1_Missense_Mutation_p.G794D|TM9SF1_ENST00000524835.1_Missense_Mutation_p.G498D																							GGAGATGGTGCCCAGCATGAG	0.458000													19	40					0	0	0.001523	0	0
ABCG4	64137	broad.mit.edu	37	11	119031730	119031730	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:119031730G>A	ENST00000307417.3	+	15	2219	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ABCG4_ENST00000531739.1_Missense_Mutation_p.D619N|ABCG4_ENST00000449422.2_Missense_Mutation_p.D619N	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	619	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTCTACATGGACTTCCTGGT	0.597000													9	30					0	0	0.006214	0	0
NLRP4	147945	broad.mit.edu	37	19	56363684	56363684	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:56363684G>A	ENST00000301295.6	+	2	660	c.238G>A	c.(238-240)Gat>Aat	p.D80N	NLRP4_ENST00000346986.5_Missense_Mutation_p.D80N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	80	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCAAAAGATGGATAGAAAGGA	0.428000													9	55					0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196651860	196651860	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:196651860G>A	ENST00000312428.6	-	58	10852	c.10752C>T	c.(10750-10752)ttC>ttT	p.F3584F	DNAH7_ENST00000409063.1_Silent_p.F67F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3584	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGCATGAAAGAAACACAGGC	0.378000													9	29					0	0	0.008291	0	0
CACNA1I	8911	broad.mit.edu	37	22	40068251	40068251	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:40068251C>T	ENST00000336649.4	+	30	4605	c.4605C>T	c.(4603-4605)gtC>gtT	p.V1535V	CACNA1I_ENST00000407673.1_Silent_p.V1494V|CACNA1I_ENST00000404898.1_Silent_p.V1494V|CACNA1I_ENST00000402142.3_Silent_p.V1529V|CACNA1I_ENST00000401624.1_Silent_p.V1529V|CACNA1I_ENST00000400164.3_Silent_p.V1494V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1529					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCACCACTGTCTTTGTGCTGG	0.532000													37	136					0	0	0.006230	0	0
TAGAP	117289	broad.mit.edu	37	6	159463193	159463193	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:159463193C>T	ENST00000367066.3	-	5	563	c.232G>A	c.(232-234)Gag>Aag	p.E78K	TAGAP_ENST00000326965.6_Intron|TAGAP_ENST00000338313.5_Missense_Mutation_p.E78K|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	78					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAGTCTGTCTCCAAAGCCCCA	0.488000													33	107					0	0	0.002445	0	0
PSG9	5678	broad.mit.edu	37	19	43766253	43766253	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:43766253T>G	ENST00000244293.7	-	3	534	c.468A>C	c.(466-468)ttA>ttC	p.L156F	PSG9_ENST00000593948.1_Missense_Mutation_p.L156F|PSG9_ENST00000270077.3_Missense_Mutation_p.L156F|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	156	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCCTGGGGTTTAAGTTGCTGC	0.522000													42	108					0	0	0.002522	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517057	158517057	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:158517057G>A	ENST00000302617.3	-	1	838	c.839C>T	c.(838-840)tCt>tTt	p.S280F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTAGAGAACAGATACCACTTT	0.458000													17	40					0	0	0.006122	0	0
ILDR1	286676	broad.mit.edu	37	3	121724178	121724178	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:121724178C>T	ENST00000273691.3	-	3	397	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	ILDR1_ENST00000344209.5_Missense_Mutation_p.E98K|ILDR1_ENST00000393631.1_Missense_Mutation_p.E98K|ILDR1_ENST00000462014.1_Missense_Mutation_p.E110K|ILDR1_ENST00000460554.1_5'UTR	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	98	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ATGCGAACTTCCCGCTGGTTG	0.602000													13	12					0	0	0.002450	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182898848	182898848	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:182898848C>T	ENST00000367547.3	-	6	1352	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	SHCBP1L_ENST00000423786.1_Silent_p.R253R|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	444										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TTTTTCCTTTCCTACGCCTCA	0.284000													5	29					0	0	0.001984	0	0
TEX13A	56157	broad.mit.edu	37	X	104464777	104464777	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:104464777G>A	ENST00000372578.3	-	2	416	c.305C>T	c.(304-306)tCa>tTa	p.S102L	TEX13A_ENST00000372575.1_Missense_Mutation_p.S102L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.S102L	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	102						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CTGTGCGGCTGATTTGTGCAG	0.637000													6	12					0	0	0.001168	0	0
ALKBH1	8846	broad.mit.edu	37	14	78174266	78174266	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:78174266G>A	ENST00000216489.3	-	1	97	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	28					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGGTAGAAGCGGAAAAGTTTC	0.662000													13	38					0	0	0.003163	0	0
SCN2A	6326	broad.mit.edu	37	2	166223779	166223779	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:166223779G>A	ENST00000375437.2	+	19	3863	c.3573G>A	c.(3571-3573)ggG>ggA	p.G1191G	SCN2A_ENST00000357398.3_Silent_p.G1191G|SCN2A_ENST00000375427.2_Silent_p.G1191G|SCN2A_ENST00000283256.6_Silent_p.G1191G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1191					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGGCAAAGGGAAACTCTGGT	0.383000													13	28					0	0	0.003163	0	0
RELN	5649	broad.mit.edu	37	7	103141318	103141318	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:103141318G>A	ENST00000428762.1	-	53	8700	c.8541C>T	c.(8539-8541)atC>atT	p.I2847I	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.I2847I|RELN_ENST00000424685.2_Silent_p.I2847I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2847					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAAATTATCGATTGCCCACT	0.458000													24	104					0	0	0.006320	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455191	187455191	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:187455191C>T	ENST00000307161.5	-	2	906	c.705G>A	c.(703-705)agG>agA	p.R235R	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	235					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGACAAAATTCCTGAAGTCCT	0.502000													31	73					0	0	0.002836	0	0
PCYT1A	5130	broad.mit.edu	37	3	195968927	195968927	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:195968927G>A	ENST00000292823.2	-	8	772	c.600C>T	c.(598-600)atC>atT	p.I200I	PCYT1A_ENST00000431016.1_Silent_p.I200I|PCYT1A_ENST00000419333.1_Silent_p.I200I	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	200	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	p.I200I(1)		cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CTGATGTGGAGATACCTTCTG	0.468000													9	33					0	0	0.006214	0	0
CSMD2	114784	broad.mit.edu	37	1	34087804	34087804	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:34087804G>A	ENST00000373381.4	-	37	5966	c.5790C>T	c.(5788-5790)atC>atT	p.I1930I	CSMD2_ENST00000373380.1_Silent_p.I803I|CSMD2_ENST00000373388.2_Silent_p.I29I|CSMD2_ENST00000373377.1_Silent_p.I29I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1890	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGATACGCTGATATCTGAGT	0.517000													29	88					0	0	0.002836	0	0
CUX2	23316	broad.mit.edu	37	12	111779715	111779715	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:111779715G>A	ENST00000261726.6	+	21	3671	c.3517G>A	c.(3517-3519)Gtg>Atg	p.V1173M		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1173						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAGCCCCGGGTGGTGCTGGC	0.662000													17	35					0	0	0.006122	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541700	96541700	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:96541700G>A	ENST00000371321.3	+	5	847	c.765G>A	c.(763-765)atG>atA	p.M255I	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	255					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAGAATCGATGGACATCAACA	0.353000													10	45					0	0	0.008291	0	0
OR2T12	127064	broad.mit.edu	37	1	248458774	248458774	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:248458774G>A	ENST00000317996.1	-	1	106	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCTAAACAGGGAGGTCAAAAC	0.502000													20	50					0	0	0.008871	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3789485	3789485	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:3789485C>T	ENST00000440314.2	-	5	732	c.259G>A	c.(259-261)Gag>Aag	p.E87K	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.E87K|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.E87K	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	87	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCCAGTTCCTCCAGGCTGAGC	0.527000													17	24					0	0	0.007413	0	0
INTS10	55174	broad.mit.edu	37	8	19689597	19689597	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:19689597C>T	ENST00000397977.3	+	11	1751	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	451					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAAGAATCTTCCTCACTGATA	0.388000													10	23					0	0	0.001368	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581310	234581310	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:234581310C>T	ENST00000354728.4	+	1	812	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		GGAGTATGATCTCTACAGCCA	0.423000													44	145					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20976479	20976479	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:20976479C>T	ENST00000261383.3	-	53	8726	c.8727G>A	c.(8725-8727)agG>agA	p.R2909R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2909	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTCTGCCTCCCTCAGTCGCT	0.602000													32	105					0	0	0.002836	0	0
GPR112	139378	broad.mit.edu	37	X	135488088	135488088	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:135488088G>A	ENST00000394143.1	+	23	9183	c.8892G>A	c.(8890-8892)agG>agA	p.R2964R	GPR112_ENST00000287534.4_Silent_p.R2717R|GPR112_ENST00000394141.1_Silent_p.R2759R|GPR112_ENST00000412101.1_Silent_p.R2759R|GPR112_ENST00000370652.1_Silent_p.R2964R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2964					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACCCATGAGGAACTTTTTCT	0.453000													28	90					0	0	0.008361	0	0
FOXP4	116113	broad.mit.edu	37	6	41557871	41557871	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:41557871G>A	ENST00000373060.1	+	11	1778	c.1320G>A	c.(1318-1320)cgG>cgA	p.R440R	FOXP4_ENST00000409208.1_Silent_p.R428R|FOXP4_ENST00000373057.3_Silent_p.R438R|FOXP4_ENST00000373063.3_Silent_p.R427R|FOXP4_ENST00000307972.4_Silent_p.R440R	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	440					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGCCCGTCGGAGAAGCAGTG	0.692000													13	36					0	0	0.007413	0	0
EDNRA	1909	broad.mit.edu	37	4	148441023	148441023	+	Silent	SNP	T	T	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:148441023T>G	ENST00000324300.5	+	3	956	c.441T>G	c.(439-441)ccT>ccG	p.P147P	EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000339690.5_Intron|EDNRA_ENST00000506066.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	147					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GGCGCTGGCCTTTTGATCACA	0.512000													37	91					0	0	0.006999	0	0
LRRC66	339977	broad.mit.edu	37	4	52861452	52861452	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:52861452G>A	ENST00000343457.3	-	4	1742	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	579						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCCGGAGAGGGAAGGGTCTAA	0.502000													25	82					0	0	0.006320	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221985	1221985	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:1221985C>T	ENST00000304460.10	+	12	1927	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	624					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGCACACTGTCCACAGCCTCC	0.602000													9	35					0	0	0.006214	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573095	44573095	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:44573095G>A	ENST00000289547.4	-	8	2399	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F	NPC1L1_ENST00000381160.3_Missense_Mutation_p.L782F|NPC1L1_ENST00000546276.1_Missense_Mutation_p.L782F|NPC1L1_ENST00000423141.1_3'UTR	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	782	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGAAGTCAAGGATCACTGCA	0.642000													13	43					0	0	0.002450	0	0
C8B	732	broad.mit.edu	37	1	57420467	57420467	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:57420467C>T	ENST00000543257.1	-	5	835	c.269G>A	c.(268-270)gGg>gAg	p.G90E	C8B_ENST00000535057.1_Missense_Mutation_p.G80E|C8B_ENST00000371237.4_Missense_Mutation_p.G142E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	142	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTCATTGTCCCCATTGCAAAG	0.423000													14	46					0	0	0.003163	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762578	130762578	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:130762578C>T	ENST00000392429.1	+	2	3389	c.1011C>T	c.(1009-1011)tcC>tcT	p.S337S	TMEM200A_ENST00000296978.3_Silent_p.S337S|TMEM200A_ENST00000545622.1_Silent_p.S337S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	337						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCAGTGAATCCTTCCAGCCCG	0.483000													13	21					0	0	0.003163	0	0
TMCO3	55002	broad.mit.edu	37	13	114201629	114201629	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr13:114201629C>T	ENST00000434316.2	+	11	2064	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	569						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCACGTGTTCCCCACGTTTGT	0.572000													6	28					0	0	0.004482	0	0
NPR1	4881	broad.mit.edu	37	1	153661937	153661937	+	Silent	SNP	C	C	T	rs139666221	byFrequency	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:153661937C>T	ENST00000368680.3	+	18	3169	c.2697C>T	c.(2695-2697)acC>acT	p.T899T		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	899	Guanylate cyclase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGGTGGTGACCCTGCTCAATG	0.537000													22	77					0	0	0.002780	0	0
FGA	2243	broad.mit.edu	37	4	155505343	155505343	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:155505343G>A	ENST00000302053.3	-	6	2612	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	845	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCTCTAAAGGAAACCCAGAC	0.493000													34	82					0	0	0.006230	0	0
MYH6	4624	broad.mit.edu	37	14	23858677	23858677	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:23858677C>T	ENST00000405093.3	-	28	3973	c.3903G>A	c.(3901-3903)tcG>tcA	p.S1301S	MYH6_ENST00000356287.3_Silent_p.S1301S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1301					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGGTCAGCTGCGAGATTAGCG	0.602000													19	39					0	0	0.007413	0	0
PTPRD	5789	broad.mit.edu	37	9	8470993	8470993	+	Splice_Site	SNP	A	A	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:8470993A>G	ENST00000381196.4	-	28	4048		c.e28+1		PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000397606.3_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGACACAGTTACCTCATCTAA	0.438000										TSP Lung(15;0.13)			13	37					0	0	0.001368	0	0
EPHA4	2043	broad.mit.edu	37	2	222429093	222429093	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:222429093C>T	ENST00000281821.2	-	3	222	c.181G>A	c.(181-183)Gat>Aat	p.D61N	EPHA4_ENST00000409938.1_Missense_Mutation_p.D61N|EPHA4_ENST00000409854.1_Missense_Mutation_p.D61N|EPHA4_ENST00000392071.4_Missense_Mutation_p.D10N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	61						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTTTTTTCATCCATGATACTC	0.428000													29	56					0	0	0.002445	0	0
PDP2	57546	broad.mit.edu	37	16	66918814	66918814	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:66918814C>T	ENST00000311765.2	+	2	961	c.627C>T	c.(625-627)ctC>ctT	p.L209L	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	209					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TTGACCACCTCCGTGTCTATT	0.473000													20	36					0	0	0.007413	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239386	5239386	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:5239386C>T	ENST00000274181.7	+	15	2415	c.2278_splice	c.e15+1	p.N759_splice		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	759	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCACACCAACCGTGAGTACT	0.512000													29	55					0	0	0.001786	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457090	42457090	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:42457090G>A	ENST00000262407.5	-	18	1876	c.1845C>T	c.(1843-1845)gtC>gtT	p.V615V	ITGA2B_ENST00000353281.4_Silent_p.V615V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	615					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.V615V(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CATGCAGCACGACAGCAGGGG	0.602000													35	86					0	0	0.003271	0	0
EVPL	2125	broad.mit.edu	37	17	74004714	74004714	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:74004714G>A	ENST00000301607.3	-	22	4825	c.4572C>T	c.(4570-4572)atC>atT	p.I1524I	EVPL_ENST00000586740.1_Silent_p.I1546I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1524	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTGCACCCGGATCACTTCCT	0.617000													20	41					0	0	0.001523	0	0
SLC6A14	11254	broad.mit.edu	37	X	115568978	115568978	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:115568978G>A	ENST00000371900.4	+	2	157	c.69G>A	c.(67-69)gaG>gaA	p.E23E		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	23					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CTTCATCAGAGAATTTCCATG	0.388000													58	147					0	0	0.003610	0	0
DDX43	55510	broad.mit.edu	37	6	74110081	74110081	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:74110081G>A	ENST00000370336.4	+	3	589	c.431G>A	c.(430-432)gGa>gAa	p.G144E	DDX43_ENST00000539829.1_Missense_Mutation_p.G144E	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	144						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCAGAATGCGGAATTGGTAAG	0.323000													12	41					0	0	0.002450	0	0
GEN1	348654	broad.mit.edu	37	2	17962782	17962782	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:17962782T>C	ENST00000381254.2	+	14	2517	c.2303T>C	c.(2302-2304)gTt>gCt	p.V768A	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.V768A	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	768					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACCTGCAATGTTAGACCACCA	0.368000								Homologous recombination					10	28					0	0	0.008291	0	0
GALNT5	11227	broad.mit.edu	37	2	158115899	158115899	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:158115899C>T	ENST00000259056.4	+	1	1790	c.1305C>T	c.(1303-1305)ccC>ccT	p.P435P		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	435					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAAGGGACCCCAAAGCTCCAG	0.463000													12	26					0	0	0.002450	0	0
CYP3A7	1551	broad.mit.edu	37	7	99315203	99315203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:99315203C>T	ENST00000336374.2	-	5	380	c.378G>A	c.(376-378)tgG>tgA	p.W126*		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	126					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTATTCTCTTCCATTCTTCAT	0.383000													11	15					0	0	0.001855	0	0
EXPH5	23086	broad.mit.edu	37	11	108382902	108382902	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:108382902C>T	ENST00000265843.4	-	6	3442	c.3332G>A	c.(3331-3333)aGa>aAa	p.R1111K	EXPH5_ENST00000443411.1_Missense_Mutation_p.R923K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1104K|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1035K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1111					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGGTCCTTTTCTAACGGAAGT	0.473000													17	66					0	0	0.006122	0	0
CPT1C	126129	broad.mit.edu	37	19	50214011	50214011	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:50214011C>T	ENST00000392518.4	+	16	2135	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	CPT1C_ENST00000405931.2_Missense_Mutation_p.S577L|CPT1C_ENST00000323446.5_Missense_Mutation_p.S588L|CPT1C_ENST00000354199.5_Missense_Mutation_p.S588L|CPT1C_ENST00000598293.1_Missense_Mutation_p.S588L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	588					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACTTATGAGTCGGCCATGACT	0.567000													5	23					0	0	0.000602	0	0
DCDC1	341019	broad.mit.edu	37	11	31086055	31086055	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:31086055C>T	ENST00000597505.1	-	18	2551	c.2552G>A	c.(2551-2553)aGg>aAg	p.R851K	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTCCAGTTTCCTCACCAGTGC	0.473000													26	113					0	0	0.007291	0	0
MGP	4256	broad.mit.edu	37	12	15035979	15035979	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:15035979G>A	ENST00000539261.1	-	3	231	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Missense_Mutation_p.P58S	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	33					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TTAATGAAGGGATCTTAGAAC	0.368000													16	33					0	0	0.006122	0	0
SCN4A	6329	broad.mit.edu	37	17	62026783	62026783	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:62026783C>T	ENST00000578147.1	-	15	3035	c.2959G>A	c.(2959-2961)Ggg>Agg	p.G987R	SCN4A_ENST00000435607.1_Missense_Mutation_p.G987R			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	987					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGCTGCTCCCCCTCGGGGTTC	0.657000													4	4					0	0	0.000248	0	0
ADAM29	11086	broad.mit.edu	37	4	175896782	175896782	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:175896782C>T	ENST00000359240.3	+	5	776	c.106C>T	c.(106-108)Cct>Tct	p.P36S	ADAM29_ENST00000445694.1_Missense_Mutation_p.P36S|ADAM29_ENST00000404450.4_Missense_Mutation_p.P36S|ADAM29_ENST00000514159.1_Missense_Mutation_p.P36S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	36					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)		TGTGGTGATTCCTGTGAGGAT	0.527000													15	21					0	0	0.003163	0	0
TUSC3	7991	broad.mit.edu	37	8	15508241	15508241	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:15508241C>T	ENST00000382020.4	+	3	552	c.344C>T	c.(343-345)tCc>tTc	p.S115F	TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000509380.1_Missense_Mutation_p.S115F|TUSC3_ENST00000506802.1_Missense_Mutation_p.S115F|TUSC3_ENST00000503731.1_Missense_Mutation_p.S115F	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	115					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTGGCGAACTCCTGGCGCTAT	0.393000													27	77					0	0	0.008361	0	0
OR8I2	120586	broad.mit.edu	37	11	55861531	55861531	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:55861531T>C	ENST00000302124.2	+	1	779	c.748T>C	c.(748-750)Ttt>Ctt	p.F250L	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGTAACTATCTTTTATGGGTC	0.483000													23	73					0	0	0.003330	0	0
ATRN	8455	broad.mit.edu	37	20	3556597	3556597	+	Splice_Site	SNP	T	T	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:3556597T>G	ENST00000262919.5	+	13	2282		c.e13+2		ATRN_ENST00000446916.2_Splice_Site	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin						inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GAAGGCCAGGTCAGAGGCTGT	0.433000													7	5					0	0	0.001984	0	0
EPS8L3	79574	broad.mit.edu	37	1	110300603	110300603	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:110300603C>T	ENST00000369805.3	-	9	1027	c.798G>A	c.(796-798)agG>agA	p.R266R	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Silent_p.R265R|EPS8L3_ENST00000361852.4_Silent_p.R265R	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	265						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		ATTTCTTCTTCCTGCTGGTCT	0.547000													21	56					0	0	0.003330	0	0
ZIM3	114026	broad.mit.edu	37	19	57647422	57647422	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:57647422C>T	ENST00000269834.1	-	5	668	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTTCACATCCTTTGGCTTC	0.398000													28	88					0	0	0.002096	0	0
DIP2C	22982	broad.mit.edu	37	10	465122	465122	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:465122G>A	ENST00000280886.6	-	6	709	c.622C>T	c.(622-624)Cct>Tct	p.P208S	DIP2C_ENST00000381496.3_Missense_Mutation_p.P101S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	208						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTTACGTCAGGAGGTGCAGAA	0.537000													24	59					0	0	0.004656	0	0
OR2T11	127077	broad.mit.edu	37	1	248790197	248790197	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:248790197A>T	ENST00000330803.2	-	1	294	c.233T>A	c.(232-234)cTc>cAc	p.L78H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTGCCAGGAGTTTTGGGAC	0.488000													19	29					0	0	0.007413	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701292	56701292	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:56701292C>T	ENST00000586855.2	-	5	1705	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E	ZSCAN5B_ENST00000358992.3_Silent_p.E464E			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	464					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTAGGGCTTCTCTCCGGAGT	0.542000													8	34					0	0	0.004482	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985081	157985081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:157985081G>A	ENST00000389413.3	-	5	590	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	PTPRN2_ENST00000409483.1_Nonsense_Mutation_p.Q125*|PTPRN2_ENST00000404321.2_Nonsense_Mutation_p.Q186*|PTPRN2_ENST00000389416.4_Nonsense_Mutation_p.Q146*|PTPRN2_ENST00000389418.4_Nonsense_Mutation_p.Q163*	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	163						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCTGGGGCCTGGGACAGGGCC	0.692000													50	38					0	0	0.003610	0	0
PLB1	151056	broad.mit.edu	37	2	28772881	28772881	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:28772881G>A	ENST00000422425.2	+	16	1090	c.1046G>A	c.(1045-1047)aGc>aAc	p.S349N	PLB1_ENST00000327757.5_Missense_Mutation_p.S338N|PLB1_ENST00000329020.6_Missense_Mutation_p.S26N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	338	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGCAGGAGAGCCCCTATCTG	0.463000													6	19					0	0	0.001984	0	0
ANK1	286	broad.mit.edu	37	8	41550174	41550174	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:41550174C>T	ENST00000396942.1	-	31	3933	c.3850G>A	c.(3850-3852)Gac>Aac	p.D1284N	ANK1_ENST00000352337.4_Missense_Mutation_p.D1284N|ANK1_ENST00000289734.7_Missense_Mutation_p.D1284N|ANK1_ENST00000347528.4_Missense_Mutation_p.D1284N|ANK1_ENST00000396945.1_Missense_Mutation_p.D1284N|ANK1_ENST00000379758.2_Missense_Mutation_p.D1284N|ANK1_ENST00000265709.8_Missense_Mutation_p.D1325N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1284					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACCTCTATGTCCCTGCTCCGG	0.612000													68	194					0	0	0.003610	0	0
FBXL12	54850	broad.mit.edu	37	19	9921871	9921871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:9921871G>A	ENST00000247977.4	-	3	923	c.682C>T	c.(682-684)Cga>Tga	p.R228*	FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Nonsense_Mutation_p.R175*|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Nonsense_Mutation_p.R175*	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	228							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CGCACATCTCGGAGGTGGCGG	0.672000													4	21					0	0	0.000248	0	0
PAPPA	5069	broad.mit.edu	37	9	118982354	118982354	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:118982354C>T	ENST00000328252.3	+	5	2426	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	686					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCCACACAACGGACTCTGTG	0.577000													29	79					0	0	0.002096	0	0
NLRC4	58484	broad.mit.edu	37	2	32476326	32476326	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:32476326G>A	ENST00000404025.2	-	5	1095	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.L203F|NLRC4_ENST00000360906.5_Missense_Mutation_p.L203F			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	203	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGAGACGGAGGAAGAAGACG	0.527000													13	42					0	0	0.001368	0	0
RIMS2	9699	broad.mit.edu	37	8	105263284	105263284	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:105263284G>A	ENST00000507740.1	+	21	3402	c.3166G>A	c.(3166-3168)Gga>Aga	p.G1056R	RIMS2_ENST00000406091.3_Missense_Mutation_p.G1242R|RIMS2_ENST00000262231.10_Missense_Mutation_p.G1081R|RIMS2_ENST00000339750.2_Missense_Mutation_p.G178R|RIMS2_ENST00000436393.2_Missense_Mutation_p.G1260R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1304					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAGATAACGGAGTCTGCAT	0.418000										HNSCC(12;0.0054)			10	33					0	0	0.008291	0	0
MUC5B	727897	broad.mit.edu	37	11	1261051	1261051	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:1261051C>T	ENST00000447027.1	+	28	3673	c.3615C>T	c.(3613-3615)ccC>ccT	p.P1205P	MUC5B_ENST00000529681.1_Silent_p.P1202P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1202	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGTGCCCACCCAGCCAGCCCT	0.612000													5	14					0	0	0.001168	0	0
HIPK1	204851	broad.mit.edu	37	1	114510528	114510528	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:114510528T>C	ENST00000369558.1	+	12	2754	c.2522T>C	c.(2521-2523)cTc>cCc	p.L841P	HIPK1_ENST00000369559.4_Missense_Mutation_p.L841P|HIPK1_ENST00000340480.4_Missense_Mutation_p.L467P|HIPK1_ENST00000369561.4_Missense_Mutation_p.L807P|HIPK1_ENST00000406344.1_Missense_Mutation_p.L447P|HIPK1_ENST00000369554.2_Missense_Mutation_p.L796P|HIPK1_ENST00000426820.2_Missense_Mutation_p.L841P|HIPK1_ENST00000369555.2_Missense_Mutation_p.L796P|HIPK1_ENST00000369553.1_Missense_Mutation_p.L447P			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGTTCCCTCCCTTCGAAG	0.473000													20	38					0	0	0.008871	0	0
GCNT3	9245	broad.mit.edu	37	15	59911499	59911499	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:59911499C>T	ENST00000396065.1	+	3	1510	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	GCNT3_ENST00000560585.1_Silent_p.I354I	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	354					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTACGACATCTCAGACATGA	0.552000													21	63					0	0	0.001523	0	0
BBS12	166379	broad.mit.edu	37	4	123665154	123665154	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:123665154G>A	ENST00000542236.1	+	3	2488	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	BBS12_ENST00000314218.3_Missense_Mutation_p.E703K	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	703					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAATTCACAGGAATTAACGGG	0.348000									Bardet-Biedl syndrome				18	47					0	0	0.008871	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665305	6665305	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:6665305C>T	ENST00000326176.9	-	5	628	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	TNFSF14_ENST00000599359.1_Missense_Mutation_p.G119S|TNFSF14_ENST00000245912.3_Missense_Mutation_p.G83S	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	119		Cleavage (Potential).			cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AAGGCCAGGCCCAGCTGAGTC	0.627000													6	11					0	0	0.001168	0	0
SAGE1	55511	broad.mit.edu	37	X	134992694	134992694	+	Missense_Mutation	SNP	C	C	T	rs147236070	byFrequency	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:134992694C>T	ENST00000535938.1	+	16	2152	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	SAGE1_ENST00000370709.3_Missense_Mutation_p.S662F|SAGE1_ENST00000537770.1_Missense_Mutation_p.S286F|SAGE1_ENST00000324447.3_Missense_Mutation_p.S662F	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	662										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGAATTTCATCCACGATTACC	0.433000													22	84					0	0	0.002780	0	0
SYNGR1	9145	broad.mit.edu	37	22	39772070	39772070	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:39772070C>T	ENST00000328933.5	+	3	366	c.351C>T	c.(349-351)ttC>ttT	p.F117F	SYNGR1_ENST00000381535.4_Silent_p.F118F|SYNGR1_ENST00000318801.4_Silent_p.F117F|SYNGR1_ENST00000406293.3_Silent_p.F117F	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TCTGGGCTTTCCTCTGGTTCG	0.632000													35	80					0	0	0.007835	0	0
KNDC1	85442	broad.mit.edu	37	10	135038295	135038295	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:135038295C>T	ENST00000304613.3	+	30	5172	c.5151C>T	c.(5149-5151)ctC>ctT	p.L1717L	KNDC1_ENST00000368572.2_Silent_p.L1719L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1717	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTTCCACACTCGCCGCAGATA	0.577000													5	19					0	0	0.000602	0	0
ADAM7	8756	broad.mit.edu	37	8	24324428	24324428	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:24324428C>T	ENST00000175238.6	+	6	589	c.506C>T	c.(505-507)tCc>tTc	p.S169F	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.S169F|ADAM7_ENST00000380789.1_Missense_Mutation_p.S169F|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	169					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GCCAATTATTCCTGTACAGAG	0.373000													14	58					0	0	0.007413	0	0
THADA	63892	broad.mit.edu	37	2	43804250	43804250	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:43804250G>A	ENST00000403856.1	-	11	1095	c.948C>T	c.(946-948)gcC>gcT	p.A316A	THADA_ENST00000330266.7_Silent_p.A26A|THADA_ENST00000415080.2_Silent_p.A26A|THADA_ENST00000405975.2_Silent_p.A316A|THADA_ENST00000405006.4_Silent_p.A316A|THADA_ENST00000404790.1_Silent_p.A316A|THADA_ENST00000402360.2_Silent_p.A316A			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	316							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGTCCAACATGGCAAGTGTCC	0.532000											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	85	222					0	0	0.003610	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060883	76060883	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:76060883C>T	ENST00000335749.4	+	4	3036	c.2467C>T	c.(2467-2469)Ctg>Ttg	p.L823L	TNRC6C_ENST00000541771.1_Silent_p.L826L|TNRC6C_ENST00000544502.1_Silent_p.L823L|TNRC6C_ENST00000588847.1_Silent_p.L823L|TNRC6C_ENST00000588061.1_Silent_p.L826L|TNRC6C_ENST00000301624.4_Silent_p.L826L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	826	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCTTCTACCCTGGTGGATAA	0.562000													6	20					0	0	0.004482	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167316	140167316	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:140167316G>A	ENST00000504120.2	+	1	1441	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	PCDHA1_ENST00000378133.3_Missense_Mutation_p.D481N|PCDHA1_ENST00000394633.3_Missense_Mutation_p.D481N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGCGCGGGACGCGGACGC	0.652000													21	44					0	0	0.003330	0	0
FCGBP	8857	broad.mit.edu	37	19	40396021	40396021	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:40396021G>A	ENST00000221347.6	-	15	7383	c.7376C>T	c.(7375-7377)cCc>cTc	p.P2459L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2459	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTGTAGTGGGGATCTCCCGA	0.677000													5	43					0	0	0.001168	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910816	38910816	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:38910816C>T	ENST00000454404.2	-	5	677	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	RASGRP4_ENST00000587738.1_Missense_Mutation_p.R155Q|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R155Q|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R155Q|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R155Q|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R155Q|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R155Q	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	155	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTGCCCTCCCGGGCCACGGT	0.597000													5	15					0	0	0.001168	0	0
PTGFR	5737	broad.mit.edu	37	1	78958526	78958526	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:78958526C>T	ENST00000370756.3	+	2	335	c.98C>T	c.(97-99)tCa>tTa	p.S33L	PTGFR_ENST00000370757.3_Missense_Mutation_p.S33L|PTGFR_ENST00000370758.1_Missense_Mutation_p.S33L	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	33					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GTATTTTTTTCAGTAATCTTC	0.443000													12	40					0	0	0.001368	0	0
MRPL4	51073	broad.mit.edu	37	19	10370361	10370361	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:10370361G>A	ENST00000253099.6	+	9	1095	c.808G>A	c.(808-810)Gag>Aag	p.E270K	MRPL4_ENST00000393733.2_3'UTR|MRPL4_ENST00000307422.5_Missense_Mutation_p.E270K|CTD-2369P2.4_ENST00000587088.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	270					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CGCCTTCCTGGAGGACAAGCT	0.682000													9	13					0	0	0.008291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455963	110455963	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:110455963C>T	ENST00000378402.5	+	37	4727	c.4623C>T	c.(4621-4623)ccC>ccT	p.P1541P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1541					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAACAGAACCCCTGTGCAGCC	0.423000										HNSCC(38;0.096)			4	22					0	0	0.000602	0	0
EWSR1	2130	broad.mit.edu	37	22	29684658	29684658	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr22:29684658C>T	ENST00000397938.2	+	8	1176	c.857C>T	c.(856-858)tCc>tTc	p.S286F	EWSR1_ENST00000333395.6_Missense_Mutation_p.S286F|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000332035.6_Missense_Mutation_p.S230F|EWSR1_ENST00000331029.7_Missense_Mutation_p.S286F|EWSR1_ENST00000406548.1_Missense_Mutation_p.S286F|EWSR1_ENST00000414183.2_Missense_Mutation_p.S292F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGATTTTCCGGACCAGGA	0.582000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								10	23					0	0	0.008291	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33569402	33569402	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:33569402C>G	ENST00000321505.4	+	3	2767	c.2587C>G	c.(2587-2589)Cac>Gac	p.H863D	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.H869D|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.H869D					KIAA1549-like																		GAAGGCTTTCCACCAGAACGA	0.468000													3	15					0	0	0.004672	0	0
PNPLA7	375775	broad.mit.edu	37	9	140414475	140414475	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:140414475G>A	ENST00000406427.1	-	11	1314	c.978C>T	c.(976-978)ctC>ctT	p.L326L	PNPLA7_ENST00000277531.4_Silent_p.L301L	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	301				K -> M (in Ref. 1; BAC86036).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTACAGACACGAGAGGGATGG	0.597000													37	104					0	0	0.007835	0	0
VN1R2	317701	broad.mit.edu	37	19	53761937	53761937	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:53761937G>A	ENST00000341702.3	+	1	393	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	103					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GAATCCTGGGGAATTTTTCAC	0.438000													7	14					0	0	0.001984	0	0
VPS11	55823	broad.mit.edu	37	11	118949000	118949000	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:118949000C>T	ENST00000300793.6	+	12	1918	c.1876C>T	c.(1876-1878)Ctt>Ttt	p.L626F	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	627					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CGACACACTCCTTGAGCTGCG	0.567000													30	98					0	0	0.007291	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47630184	47630184	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:47630184C>T	ENST00000371917.4	+	29	4002	c.4002C>T	c.(4000-4002)ttC>ttT	p.F1334F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1334					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCATCTTATTCGAACTCTCCT	0.463000													5	44					0	0	0.000602	0	0
FLG2	388698	broad.mit.edu	37	1	152326001	152326001	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:152326001C>T	ENST00000388718.5	-	3	4333	c.4261G>A	c.(4261-4263)Gga>Aga	p.G1421R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1421							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCCCCTTCTTCCA	0.527000													54	125					0	0	0.003610	0	0
USP53	54532	broad.mit.edu	37	4	120192980	120192980	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:120192980C>T	ENST00000450251.1	+	12	2509	c.1965C>T	c.(1963-1965)tcC>tcT	p.S655S	USP53_ENST00000274030.6_Silent_p.S655S			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	655					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCAGAAGTTCCCTTGAATCTA	0.383000													9	29					0	0	0.004482	0	0
OR10H4	126541	broad.mit.edu	37	19	16060754	16060754	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:16060754C>T	ENST00000322107.1	+	1	937	c.937C>T	c.(937-939)Cct>Tct	p.P313S		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						AAAATTCTGTCCTCCAAGTTC	0.393000													7	22					0	0	0.001984	0	0
OPTC	26254	broad.mit.edu	37	1	203467897	203467897	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:203467897G>A	ENST00000367222.2	+	4	575	c.459G>A	c.(457-459)cgG>cgA	p.R153R		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	153	LRRNT.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCTTCCTCGGAGGACTGCCT	0.567000													13	48					0	0	0.001368	0	0
DHTKD1	55526	broad.mit.edu	37	10	12149924	12149924	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:12149924C>T	ENST00000263035.4	+	12	2126	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	688					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCAAGTGGCTCCTACAAAGCG	0.552000													60	190					0	0	0.003610	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890456	23890456	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:23890456C>G	ENST00000532292.1	-	1	719	c.625G>C	c.(625-627)Gag>Cag	p.E209Q		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTTGGGGTCTCTGAGGCAGCA	0.567000													12	61					0	0	0.001368	0	0
C6	729	broad.mit.edu	37	5	41143030	41143030	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:41143030C>T	ENST00000263413.3	-	18	2966	c.2702G>A	c.(2701-2703)gGa>gAa	p.G901E	C6_ENST00000337836.5_Missense_Mutation_p.G901E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	901	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGTTGATGATCCCATTTTGAC	0.448000													8	61					0	0	0.003080	0	0
CCDC6	8030	broad.mit.edu	37	10	61554277	61554277	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:61554277G>A	ENST00000263102.6	-	8	1415	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	395						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		AAGACCCGGGGAATTGTAATA	0.453000			T	RET	NSCLC								9	22					0	0	0.006214	0	0
OR5L2	26338	broad.mit.edu	37	11	55595549	55595549	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:55595549G>A	ENST00000378397.1	+	1	855	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L285L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCCCATGCTGAACCCCCTGA	0.443000										HNSCC(27;0.073)			5	18					0	0	0.001168	0	0
DCC	1630	broad.mit.edu	37	18	50936913	50936913	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:50936913C>T	ENST00000442544.2	+	20	3643	c.3027C>T	c.(3025-3027)atC>atT	p.I1009I	DCC_ENST00000581580.1_Silent_p.I644I|DCC_ENST00000412726.1_Silent_p.I837I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1009	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCATCAAATCATGGATCTCA	0.388000													24	45					0	0	0.003954	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629803	7629803	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:7629803G>A	ENST00000340209.4	+	3	607	c.310G>A	c.(310-312)Gat>Aat	p.D104N	RBFOX1_ENST00000355637.4_Missense_Mutation_p.D119N|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D119N|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Missense_Mutation_p.D99N|RBFOX1_ENST00000547372.1_Missense_Mutation_p.D142N|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D142N|RBFOX1_ENST00000547338.1_Missense_Mutation_p.D99N|RBFOX1_ENST00000550418.1_Missense_Mutation_p.D99N|RBFOX1_ENST00000436368.2_Missense_Mutation_p.D119N|RBFOX1_ENST00000552089.1_Missense_Mutation_p.D134N			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	99					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGCACCGACGGATGGCCAGCC	0.527000													9	44					0	0	0.004482	0	0
FLCN	201163	broad.mit.edu	37	17	17120420	17120420	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:17120420T>A	ENST00000285071.4	-	10	1593	c.1139A>T	c.(1138-1140)gAc>gTc	p.D380V	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R87S	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	380					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAGGTCCACGTCTCTGCTTTT	0.557000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				7	16					0	0	0.003080	0	0
LSM1	27257	broad.mit.edu	37	8	38021196	38021196	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:38021196C>G	ENST00000311351.4	-	4	789	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	LSM1_ENST00000522515.1_5'UTR|RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000520755.1_3'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)	132					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					GATTAGTACTCATCAAGAGTA	0.507000													7	24					0	0	0.001984	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183107	147183107	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:147183107G>A	ENST00000361727.3	+	11	2267	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	584	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATGAGACAGGATACAGTGGG	0.458000										HNSCC(39;0.1)			13	85					0	0	0.002450	0	0
PLXNC1	10154	broad.mit.edu	37	12	94603446	94603446	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:94603446C>T	ENST00000258526.4	+	5	1769	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	507					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.P507H(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAAAAGTGCCCTAAAATTCAG	0.363000													29	85					0	0	0.002836	0	0
TMEM251	26175	broad.mit.edu	37	14	93653003	93653003	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:93653003T>C	ENST00000415050.2	+	2	872	c.497T>C	c.(496-498)cTg>cCg	p.L166P	TMEM251_ENST00000283534.4_Missense_Mutation_p.L128P|RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_001098621.1	NP_001092091.1			transmembrane protein 251																		AGACTACAACTGATTGACACG	0.423000													26	62					0	0	0.006320	0	0
GPR87	53836	broad.mit.edu	37	3	151012384	151012384	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:151012384G>A	ENST00000260843.4	-	3	1114	c.650C>T	c.(649-651)gCc>gTc	p.A217V	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	217						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACCAGCACGGCCACAAACAA	0.458000													18	43					0	0	0.004990	0	0
TKTL2	84076	broad.mit.edu	37	4	164394100	164394100	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:164394100C>T	ENST00000280605.3	-	1	947	c.787G>A	c.(787-789)Gga>Aga	p.G263R		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	263						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTGGCTTTCCATGCCAATTT	0.418000													32	75					0	0	0.003271	0	0
OR4E2	26686	broad.mit.edu	37	14	22133327	22133327	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr14:22133327G>A	ENST00000408935.1	+	1	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AAGAGTGACTGAATTTGTCTT	0.368000													22	62					0	0	0.002780	0	0
ZNF777	27153	broad.mit.edu	37	7	149129613	149129613	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:149129613G>A	ENST00000247930.4	-	6	2073	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTTGTGCCGGAAGCTGATC	0.642000													35	32					0	0	0.003271	0	0
ALPK1	80216	broad.mit.edu	37	4	113353293	113353293	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:113353293C>T	ENST00000458497.1	+	11	2869	c.2590C>T	c.(2590-2592)Ccc>Tcc	p.P864S	ALPK1_ENST00000504176.2_Missense_Mutation_p.P786S|ALPK1_ENST00000177648.9_Missense_Mutation_p.P864S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	864							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CATGGATGTTCCCTGCACAAA	0.577000													5	27					0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13766162	13766162	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:13766162C>T	ENST00000265104.4	-	59	10128	c.10024G>A	c.(10024-10026)Gaa>Aaa	p.E3342K	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3342	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGCTTTTTTCCAGGTCAATT	0.488000									Kartagener syndrome				22	101					0	0	0.001882	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552686	173552686	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:173552686C>T	ENST00000367714.3	-	6	1021	c.599G>A	c.(598-600)gGa>gAa	p.G200E	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.G98E	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	200					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CCGAAAATTTCCAAAAAAAAT	0.279000													14	34					0	0	0.002450	0	0
ALPL	249	broad.mit.edu	37	1	21890535	21890535	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:21890535G>A	ENST00000374840.3	+	6	724	c.472_splice	c.e6-1	p.G158_splice	ALPL_ENST00000539907.1_Splice_Site_p.G81_splice|ALPL_ENST00000425315.2_Splice_Site_p.G158_splice|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000540617.1_Splice_Site_p.G103_splice|ALPL_ENST00000374832.1_Splice_Site_p.G158_splice	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	158					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GCACCCCAGGGAAATCTGTGG	0.647000													6	19					0	0	0.001984	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449892	62449892	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:62449892C>T	ENST00000301998.4	+	2	789	c.537C>T	c.(535-537)gtC>gtT	p.V179V	B3GNT2_ENST00000405767.1_Silent_p.V179V	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	179						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TGGTGCGAGTCTTCCTGCTGG	0.527000													21	25					0	0	0.008871	0	0
CAMK2B	816	broad.mit.edu	37	7	44283126	44283126	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:44283126G>A	ENST00000395749.2	-	7	491	c.414_splice	c.e7-1	p.P139_splice	CAMK2B_ENST00000347193.4_Splice_Site_p.P139_splice|CAMK2B_ENST00000346990.4_Splice_Site_p.P139_splice|CAMK2B_ENST00000358707.3_Splice_Site_p.P139_splice|CAMK2B_ENST00000395747.2_Splice_Site_p.P139_splice|CAMK2B_ENST00000457475.1_Splice_Site_p.P139_splice|CAMK2B_ENST00000440254.2_Splice_Site_p.P139_splice|CAMK2B_ENST00000258682.6_Splice_Site_p.P139_splice|CAMK2B_ENST00000353625.4_Splice_Site_p.P139_splice|CAMK2B_ENST00000350811.3_Splice_Site_p.P139_splice|CAMK2B_ENST00000502837.2_Splice_Site_p.P10_splice	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	139	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGTTCTCCGGCTGCAGGGAG	0.567000													5	21					0	0	0.000602	0	0
IFT74	80173	broad.mit.edu	37	9	27029056	27029056	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:27029056T>A	ENST00000443698.1	+	13	1179	c.1008T>A	c.(1006-1008)ttT>ttA	p.F336L	IFT74_ENST00000433700.1_Missense_Mutation_p.F336L|IFT74_ENST00000380062.5_Missense_Mutation_p.F336L|IFT74_ENST00000429045.2_Missense_Mutation_p.F336L	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	336						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TAAATCAGTTTATTGAAGAAA	0.269000													13	18					0	0	0.004007	0	0
ERBB4	2066	broad.mit.edu	37	2	212295760	212295760	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr2:212295760C>T	ENST00000342788.4	-	21	2863	c.2553G>A	c.(2551-2553)gtG>gtA	p.V851V	ERBB4_ENST00000436443.1_Silent_p.V851V|ERBB4_ENST00000402597.1_Silent_p.V841V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	851	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTGGAGATTTCACTAAGACAT	0.413000										TSP Lung(8;0.080)			19	40					0	0	0.001882	0	0
IFT122	55764	broad.mit.edu	37	3	129218838	129218838	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:129218838G>A	ENST00000296266.3	+	20	2647	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M	IFT122_ENST00000349441.2_Missense_Mutation_p.V657M|IFT122_ENST00000348417.2_Missense_Mutation_p.V768M|IFT122_ENST00000347300.2_Missense_Mutation_p.V709M|IFT122_ENST00000507564.1_Missense_Mutation_p.V760M|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.V644M|IFT122_ENST00000440957.2_Missense_Mutation_p.V559M|IFT122_ENST00000431818.2_Missense_Mutation_p.V618M	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	768					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.V819L(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAAAGCCGCCGTGGAGATGTA	0.527000													16	20					0	0	0.003163	0	0
ZNF121	7675	broad.mit.edu	37	19	9677529	9677529	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:9677529G>A	ENST00000586602.1	-	6	676	c.260C>T	c.(259-261)tCc>tTc	p.S87F	ZNF121_ENST00000320451.6_Missense_Mutation_p.S87F			P58317	ZN121_HUMAN	zinc finger protein 121	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						GTATTCAAAGGATTTGTCTCC	0.448000													6	43					0	0	0.001168	0	0
ACAP2	23527	broad.mit.edu	37	3	195022715	195022715	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:195022715G>A	ENST00000326793.6	-	14	1535	c.1305C>T	c.(1303-1305)atC>atT	p.I435I		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	435	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CGGAGCACTCGATACACAAGG	0.522000													25	69					0	0	0.003954	0	0
BRINP2	57795	broad.mit.edu	37	1	177226496	177226496	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:177226496C>T	ENST00000361539.4	+	4	957	c.645C>T	c.(643-645)atC>atT	p.I215I	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		215						extracellular region		p.I215I(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCACCATATCCAGATAGCCA	0.612000													6	15					0	0	0.001984	0	0
TENM3	55714	broad.mit.edu	37	4	183664516	183664516	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:183664516C>T	ENST00000511685.1	+	19	3696	c.3573C>T	c.(3571-3573)ttC>ttT	p.F1191F	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.F1191F					teneurin transmembrane protein 3																		TAGGCGATTTCAACTATGTGC	0.468000													10	35					0	0	0.001855	0	0
CDR2	1039	broad.mit.edu	37	16	22358818	22358818	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:22358818G>A	ENST00000268383.2	-	5	1140	c.833C>T	c.(832-834)tCt>tTt	p.S278F		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	278						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AACATACAGAGAGTCTGGCAC	0.542000													7	21					0	0	0.003080	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128977608	128977608	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:128977608C>T	ENST00000274487.4	+	11	1954	c.1809C>T	c.(1807-1809)acC>acT	p.T603T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	603	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AATGCAGAACCAAGCTAGACC	0.393000													9	35					0	0	0.000978	0	0
GPR64	10149	broad.mit.edu	37	X	19031830	19031830	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:19031830G>A	ENST00000354791.3	-	15	1266	c.1025C>T	c.(1024-1026)aCt>aTt	p.T342I	GPR64_ENST00000379873.2_Missense_Mutation_p.T358I|GPR64_ENST00000357544.3_Missense_Mutation_p.T328I|GPR64_ENST00000379876.1_Missense_Mutation_p.T334I|GPR64_ENST00000357991.3_Missense_Mutation_p.T355I|GPR64_ENST00000379878.3_Missense_Mutation_p.T342I|GPR64_ENST00000356606.4_Missense_Mutation_p.T344I|GPR64_ENST00000360279.4_Missense_Mutation_p.T336I|GPR64_ENST00000340581.3_Missense_Mutation_p.T328I|GPR64_ENST00000379869.3_Missense_Mutation_p.T358I			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	358					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TGCGCTGGTAGTGTTGACATT	0.522000													24	64					0	0	0.004656	0	0
PSKH2	85481	broad.mit.edu	37	8	87081842	87081842	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:87081842C>T	ENST00000276616.2	-	1	84	c.10G>A	c.(10-12)Ggc>Agc	p.G4S	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	4							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CTGCTGGCGCCGCACCCCATA	0.711000													4	9					0	0	0.000248	0	0
LRRK2	120892	broad.mit.edu	37	12	40653294	40653294	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:40653294G>A	ENST00000298910.7	+	13	1489	c.1431G>A	c.(1429-1431)ctG>ctA	p.L477L	LRRK2_ENST00000343742.2_Silent_p.L477L	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	477					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACACTTCCCTGGATATAATGG	0.408000													13	33					0	0	0.003163	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235267	137235267	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:137235267G>A	ENST00000508638.1	+	5	642	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	PKD2L2_ENST00000350250.4_Missense_Mutation_p.R162Q|PKD2L2_ENST00000290431.5_Missense_Mutation_p.R196Q|PKD2L2_ENST00000502810.1_Missense_Mutation_p.R196Q|PKD2L2_ENST00000508883.1_Missense_Mutation_p.R196Q	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	196						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTGTTTACCGAAATGGGGGA	0.383000													11	32					0	0	0.001855	0	0
NSMCE1	197370	broad.mit.edu	37	16	27238100	27238100	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr16:27238100G>A	ENST00000361439.4	-	6	640	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	181					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						TACGTCTCCCGGATGTATTGC	0.637000													18	58					0	0	0.006122	0	0
FAM189B	10712	broad.mit.edu	37	1	155220345	155220345	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:155220345G>A	ENST00000361361.2	-	9	1741	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	FAM189B_ENST00000350210.2_Missense_Mutation_p.P315L|FAM189B_ENST00000368368.3_Missense_Mutation_p.P393L	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	411						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCCAGTGGGGGTGGAGCTTC	0.746000													5	7					0	0	0.001168	0	0
FRAS1	80144	broad.mit.edu	37	4	79417986	79417986	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:79417986G>A	ENST00000264895.6	+	60	9426	c.8986G>A	c.(8986-8988)Gat>Aat	p.D2996N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2991	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTATATCCACGATGACTCCAT	0.438000													36	91					0	0	0.002222	0	0
BAAT	570	broad.mit.edu	37	9	104125180	104125180	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:104125180G>A	ENST00000259407.2	-	4	895	c.787C>T	c.(787-789)Cct>Tct	p.P263S	BAAT_ENST00000395051.3_Missense_Mutation_p.P263S	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	263					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ATGCCAAAAGGAAAGTTGGTC	0.443000													23	49					0	0	0.002780	0	0
ADRA1A	148	broad.mit.edu	37	8	26627970	26627970	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:26627970G>A	ENST00000380573.3	-	3	2120	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V	ADRA1A_ENST00000519229.1_Missense_Mutation_p.A366V|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A366V|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A366V|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A366V|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A366V			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	366					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCCTTCCACGGCCTGGCTGGG	0.527000													31	94					0	0	0.002096	0	0
KNG1	3827	broad.mit.edu	37	3	186459360	186459360	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr3:186459360G>A	ENST00000265023.4	+	10	1387	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.R356Q|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.R392Q	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	392					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CGATCATCACGAATAGGGGAA	0.403000													8	22					0	0	0.003080	0	0
TACR3	6870	broad.mit.edu	37	4	104577417	104577417	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:104577417G>A	ENST00000304883.2	-	3	962	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	274						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTCCTCCCCAGAGAGTAATTC	0.388000													24	55					0	0	0.003330	0	0
PTPRD	5789	broad.mit.edu	37	9	8499680	8499680	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:8499680G>A	ENST00000381196.4	-	22	2832	c.2289C>T	c.(2287-2289)ccC>ccT	p.P763P	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Silent_p.P763P|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000356435.5_Silent_p.P763P|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Silent_p.P750P|PTPRD_ENST00000360074.4_Silent_p.P750P|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000537002.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	763	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTTCAGCATGGGCTGGCCCT	0.438000										TSP Lung(15;0.13)			23	68					0	0	0.004656	0	0
SEMA3E	9723	broad.mit.edu	37	7	83032010	83032010	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:83032010C>T	ENST00000307792.3	-	10	1548	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E301K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	361	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCAGGTCCTTCCTTATGTGCA	0.368000													8	21					0	0	0.006214	0	0
INTS2	57508	broad.mit.edu	37	17	59989344	59989344	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:59989344C>T	ENST00000444766.3	-	6	836	c.761G>A	c.(760-762)tGt>tAt	p.C254Y	INTS2_ENST00000251334.6_Missense_Mutation_p.C246Y	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	254					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATTCATTTTACACAAGAAGCG	0.433000													37	107					0	0	0.004878	0	0
RNGTT	8732	broad.mit.edu	37	6	89600286	89600286	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:89600286G>A	ENST00000369485.4	-	8	1010	c.824C>T	c.(823-825)tCc>tTc	p.S275F	RNGTT_ENST00000369475.3_Missense_Mutation_p.S275F|RNGTT_ENST00000265607.6_Missense_Mutation_p.S275F|RNGTT_ENST00000538899.1_Missense_Mutation_p.S215F	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	275	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CTTGTCCATGGAAACAGGCTG	0.383000													9	21					0	0	0.006214	0	0
CKAP5	9793	broad.mit.edu	37	11	46771981	46771981	+	Silent	SNP	T	T	C			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:46771981T>C	ENST00000529230.1	-	42	5593	c.5547A>G	c.(5545-5547)ggA>ggG	p.G1849G	CKAP5_ENST00000415402.1_Silent_p.G1856G|CKAP5_ENST00000354558.3_Silent_p.G1789G|CKAP5_ENST00000312055.5_Silent_p.G1789G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1849					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACTCTGCTAGTCCCTGGTGAA	0.418000													5	24					0	0	0.000602	0	0
HOXA3	3200	broad.mit.edu	37	7	27147572	27147572	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:27147572C>T	ENST00000396352.4	-	3	1493	c.1294G>A	c.(1294-1296)Gga>Aga	p.G432R	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.G432R	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	432					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G432*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGAATTCTTCCCTGAGAAGGA	0.662000													22	52					0	0	0.001882	0	0
NR4A1	3164	broad.mit.edu	37	12	52450362	52450362	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:52450362T>G	ENST00000545748.1	+	5	2248	c.1253T>G	c.(1252-1254)cTc>cGc	p.L418R	NR4A1_ENST00000394824.2_Missense_Mutation_p.L364R|NR4A1_ENST00000394825.1_Missense_Mutation_p.L364R|NR4A1_ENST00000550082.1_Missense_Mutation_p.L377R|NR4A1_ENST00000360284.3_Missense_Mutation_p.L377R|NR4A1_ENST00000243050.1_Missense_Mutation_p.L364R			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	364	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGCCAATCTCCTCACTTCC	0.627000													12	52					0	0	0.001368	0	0
GSTK1	373156	broad.mit.edu	37	7	142962155	142962155	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:142962155C>T	ENST00000479303.1	+	4	412	c.354C>T	c.(352-354)tcC>tcT	p.S118S	GSTK1_ENST00000358406.5_Silent_p.S118S|GSTK1_ENST00000409500.3_Silent_p.S118S|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Silent_p.S75S	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	118						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AGAAAGCGTCCCGGGAGCTGT	0.602000													4	41					0	0	0.000602	0	0
ZNF831	128611	broad.mit.edu	37	20	57769735	57769735	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr20:57769735C>T	ENST00000371030.2	+	1	3661	c.3661C>T	c.(3661-3663)Ccc>Tcc	p.P1221S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1221						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGATGAGGGTCCCAATGGCCC	0.632000													5	14					0	0	0.004482	0	0
PLXNA4	91584	broad.mit.edu	37	7	131982865	131982865	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr7:131982865G>A	ENST00000359827.3	-	4	2450	c.1488C>T	c.(1486-1488)atC>atT	p.I496I	PLXNA4_ENST00000321063.4_Silent_p.I496I			Q9HCM2	PLXA4_HUMAN	plexin A4	496	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTCTGACATGATGTAGAGTT	0.572000													16	91					0	0	0.006122	0	0
TRAF2	7186	broad.mit.edu	37	9	139818388	139818388	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr9:139818388C>T	ENST00000359662.3	+	10	1424	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	TRAF2_ENST00000247668.2_Missense_Mutation_p.S408F|TRAF2_ENST00000536468.1_Missense_Mutation_p.S408F			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	408	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ACACACCTGTCCCTCTTCTTT	0.627000													8	30					0	0	0.003080	0	0
EVA1B	55194	broad.mit.edu	37	1	36788049	36788049	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:36788049C>T	ENST00000270824.1	-	3	636	c.345G>A	c.(343-345)tcG>tcA	p.S115S	EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	NM_018166.1	NP_060636.1			eva-1 homolog B (C. elegans)																		GCTCCTCCGCCGACGTGAAGA	0.731000													4	27					0	0	0.000248	0	0
CUTA	51596	broad.mit.edu	37	6	33384428	33384428	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:33384428C>T	ENST00000494751.1	-	7	629	c.382G>A	c.(382-384)Gat>Aat	p.D128N	CUTA_ENST00000374500.5_Silent_p.*199*|CUTA_ENST00000488034.1_Silent_p.*180*|CUTA_ENST00000374496.3_Silent_p.*157*|CUTA_ENST00000488478.1_3'UTR|CUTA_ENST00000607266.1_Silent_p.*157*|CUTA_ENST00000440279.3_Silent_p.*157*			O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	0					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						CAGGGCTCATCATGGCAGGAC	0.532000													32	49					0	0	0.006230	0	0
PTGS2	5743	broad.mit.edu	37	1	186647412	186647412	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:186647412C>T	ENST00000367468.5	-	4	574	c.438G>A	c.(436-438)ccG>ccA	p.P146P	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	146					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CCAAGGGAGTCGGGCAATCAT	0.438000													18	50					0	0	0.006122	0	0
PXDNL	137902	broad.mit.edu	37	8	52321203	52321203	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:52321203C>T	ENST00000356297.4	-	17	3081	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G994E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	994					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACCGTGTTTCCCTCCCAGTG	0.637000													4	5					0	0	0.000248	0	0
THEMIS	387357	broad.mit.edu	37	6	128134715	128134715	+	Silent	SNP	G	G	A	rs146173025		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr6:128134715G>A	ENST00000368250.1	-	5	1332	c.834C>T	c.(832-834)atC>atT	p.I278I	THEMIS_ENST00000543064.1_Silent_p.I357I|THEMIS_ENST00000368248.2_Silent_p.I357I|THEMIS_ENST00000537166.1_Silent_p.I322I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	357	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.I357I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CACTCTTAGCGATCTCTAGGT	0.502000													33	69					0	0	0.003755	0	0
EPHB2	2048	broad.mit.edu	37	1	23111487	23111487	+	Silent	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr1:23111487G>A	ENST00000400191.3	+	3	747	c.729G>A	c.(727-729)ggG>ggA	p.G243G	EPHB2_ENST00000374627.1_Silent_p.G237G|EPHB2_ENST00000374632.3_Silent_p.G243G|EPHB2_ENST00000374630.3_Silent_p.G243G|EPHB2_ENST00000544305.1_Silent_p.G243G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	243	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACTGTAACGGGGACGGCGAGT	0.652000													16	56					0	0	0.001523	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789491	140789491	+	Silent	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr5:140789491C>T	ENST00000520790.1	+	1	1722	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCGCGTTCTTCGATATGG	0.642000													5	8					0	0	0.001168	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990228	15990228	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:15990228G>A	ENST00000221700.5	-	12	1420	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	CYP4F2_ENST00000592328.1_Missense_Mutation_p.P442L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	442					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAGCGAAAGGGGTCGTAGAC	0.577000													13	78					0	0	0.003163	0	0
BEND4	389206	broad.mit.edu	37	4	42145820	42145820	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr4:42145820C>T	ENST00000502486.1	-	3	1258	c.679G>A	c.(679-681)Gac>Aac	p.D227N	BEND4_ENST00000504360.1_Missense_Mutation_p.D223N	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	227										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCTACATTGTCTGAGGTCTGA	0.443000													8	19					0	0	0.006214	0	0
KAT6A	7994	broad.mit.edu	37	8	41832293	41832293	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr8:41832293A>G	ENST00000396930.3	-	9	1954	c.1411T>C	c.(1411-1413)Ttt>Ctt	p.F471L	KAT6A_ENST00000485568.1_Missense_Mutation_p.F471L|KAT6A_ENST00000406337.1_Missense_Mutation_p.F471L|KAT6A_ENST00000265713.2_Missense_Mutation_p.F471L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	471	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TGGCTCCCAAAAAGTCGCTCC	0.388000													12	39					0	0	0.000978	0	0
LYVE1	10894	broad.mit.edu	37	11	10585602	10585602	+	Missense_Mutation	SNP	G	G	C	rs140681022		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr11:10585602G>C	ENST00000256178.3	-	3	440	c.282C>G	c.(280-282)ttC>ttG	p.F94L	MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_5'UTR|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Intron	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	94	Link.				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		p.F94F(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		AGATGACCACGAATCCATCTC	0.448000													6	22					0	0	0.001984	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528585	77528585	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chrX:77528585G>A	ENST00000373304.3	-	3	951	c.659C>T	c.(658-660)tCa>tTa	p.S220L		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	220					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTTTTTCATTGATTTTTTTAG	0.328000													6	13					0	0	0.001168	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119805588	119805588	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr10:119805588delG	ENST00000355624.3	-	1	526	c.87delC	c.(85-87)ggfs	p.G29fs	RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.G29fs	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	29	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TACCACTTTTGCCTTTTGGCT	0.488													39	147	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174147	+	RNA	DEL	AACAAC	AACAAC	-	rs113537246		TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:13174142_13174147delAACAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaacaaca	0.553													3	2	---	---	---	---					
DPY19L2	283417	broad.mit.edu	37	12	63994127	63994134	+	Frame_Shift_Del	DEL	AAATGATT	AAATGATT	-			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr12:63994127_63994134delAAATGATT	ENST00000324472.4	-	13	1494_1501	c.1311_1318delAATCATTT	c.(1309-1320)actgfs	p.TIIL437fs		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	437					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AGAAATTTCAAAATGATTGTTCCACACC	0.312													12	57	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23283336	23283337	+	RNA	INS	-	-	T			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr15:23283336_23283337insT	ENST00000560464.1	-	0	5097																											CTTCCCAATGAGAATCTCTGAA	0.426													8	13	---	---	---	---					
MFAP4	4239	broad.mit.edu	37	17	19290122	19290123	+	In_Frame_Ins	INS	-	-	AGC			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr17:19290122_19290123insAGC	ENST00000395592.2	-	2	178_179	c.107_108insGCT	c.(106-108)cct>cGCTct	p.36_36P>RS	MFAP4_ENST00000299610.4_In_Frame_Ins_p.12_12P>RS|MFAP4_ENST00000497081.2_In_Frame_Ins_p.37_37P>RS	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	12	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCGTGGAGAGAAGCAGCAGCAG	0.649													3	4	---	---	---	---					
SMCHD1	23347	broad.mit.edu	37	18	2688685	2688685	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr18:2688685delT	ENST00000320876.6	+	7	1151	c.813delT	c.(811-813)gafs	p.D271fs	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.D271fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	271					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTAAAGAAGATTTTGAGAAGA	0.279													2	4	---	---	---	---					
PRR12	57479	broad.mit.edu	37	19	50101123	50101123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:50101123delC	ENST00000418929.2	+	4	3543	c.3531delC	c.(3529-3531)cgfs	p.R1177fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	356							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCGGATCCGCCCCCTGGAGG	0.771													2	4	---	---	---	---					
FPR1	2357	broad.mit.edu	37	19	52249827	52249839	+	Frame_Shift_Del	DEL	GGCTCACGGTGCG	GGCTCACGGTGCG	-	rs151277630	byFrequency	TCGA-ER-A19K-01A-21D-A197-08	TCGA-ER-A19K-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e257965e-42f7-4603-a41c-63b5ae2dcf00	f65de9f3-fe3c-4045-b61d-1f8dce230c98	g.chr19:52249827_52249839delGGCTCACGGTGCG	ENST00000595042.1	-	3	550_562	c.409_421delCGCACCGTGAGCC	c.(409-423)tgfs	p.RTVSL137fs	FPR1_ENST00000304748.4_Frame_Shift_Del_p.RTVSL137fs	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	137					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TTCTTGGCCAGGCTCACGGTGCGGTGGTTCTGG	0.545													7	37	---	---	---	---