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
URB2	9816	broad.mit.edu	37	1	229770666	229770666	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:229770666C>T	ENST00000258243.2	+	4	442	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	102						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATGTTCAGATCATCAATGAGA	0.403000													7	30					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9400463	9400463	+	Silent	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:9400463C>G	ENST00000378501.2	+	22	2040	c.2025C>G	c.(2023-2025)ctC>ctG	p.L675L	PLCB4_ENST00000278655.4_Silent_p.L675L|PLCB4_ENST00000334005.3_Silent_p.L675L|PLCB4_ENST00000414679.2_Silent_p.L687L|PLCB4_ENST00000378493.1_Silent_p.L675L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.L687L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	675	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGTACCTTCTCAAACCAGATT	0.433000													13	69					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13363283	13363283	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr3:13363283C>A	ENST00000254508.5	-	36	5050	c.4968G>T	c.(4966-4968)aaG>aaT	p.K1656N		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1656					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCTCAGGTGCTTCCGCTGCT	0.597000													31	175					9.65021e-13	1.40841e-12	1	1	0
STPG2	285555	broad.mit.edu	37	4	98480261	98480261	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:98480261T>A	ENST00000295268.3	-	11	1417	c.1328A>T	c.(1327-1329)cAg>cTg	p.Q443L	STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		CTTTTTCTCCTGGGATATCTG	0.279000													3	18					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185393094	185393094	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr3:185393094A>G	ENST00000382199.2	-	9	1156	c.1061T>C	c.(1060-1062)cTg>cCg	p.L354P	IGF2BP2_ENST00000346192.3_Missense_Mutation_p.L354P|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.L360P|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.L297P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	354					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GTTAACAGCCAGCATATCATT	0.458000													10	78					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135139695	135139695	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr9:135139695C>T	ENST00000372169.2	-	27	8234	c.8052G>A	c.(8050-8052)agG>agA	p.R2684R	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_Silent_p.R2655R|SETX_ENST00000393220.1_Silent_p.R2622R			Q7Z333	SETX_HUMAN	senataxin	2655					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCTAGAGTTCCTCCTGGTGT	0.552000													37	204					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107696087	107696087	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:107696087C>T	ENST00000388781.3	-	25	3828	c.3745G>A	c.(3745-3747)Gac>Aac	p.D1249N	LAMB4_ENST00000205386.4_Missense_Mutation_p.D1249N|LAMB4_ENST00000388780.3_Missense_Mutation_p.D1249N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1249	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTAACAGAGTCATGATAATCC	0.383000													15	98					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48309083	48309083	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:48309083G>A	ENST00000297423.4	+	6	1057	c.673G>A	c.(673-675)Gat>Aat	p.D225N	SPIDR_ENST00000541342.1_Missense_Mutation_p.D155N|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.D165N	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		GAGACTGATAGATCCAAGGAC	0.413000													26	84					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10415713	10415713	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:10415713G>T	ENST00000274140.5	+	21	2212	c.2080G>T	c.(2080-2082)Gtg>Ttg	p.V694L	MARCH6_ENST00000503788.1_Missense_Mutation_p.V589L|MARCH6_ENST00000449913.2_Missense_Mutation_p.V646L|MARCH6_ENST00000510792.1_Missense_Mutation_p.V392L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	694					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGCTGTGACGGTGATGGTGGC	0.478000													10	56					7.48243e-07	9.88936e-07	1	1	0
TCEB3B	51224	broad.mit.edu	37	18	44561430	44561430	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr18:44561430A>T	ENST00000332567.4	-	1	558	c.206T>A	c.(205-207)tTa>tAa	p.L69*	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	69	TFIIS N-terminal.				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						CCGGGCCGCTAAGTCTCTGGC	0.647000													6	38					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680339	114680339	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:114680339G>T	ENST00000393296.1	-	3	926	c.849C>A	c.(847-849)acC>acA	p.T283T	SYT6_ENST00000369547.1_Silent_p.T198T			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	283	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.T198T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		GGTGCACCCGGGTCTGCAGCT	0.552000													12	49					5.50884e-06	7.08279e-06	1	1	0
REG1P	5969	broad.mit.edu	37	2	79363955	79363955	+	RNA	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:79363955C>A	ENST00000444841.1	-	0	383																											CATTGCTATCCTTGGTGCCAC	0.527000													4	33					2.56e-06	3.36e-06	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186671207	186671207	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:186671207C>T	ENST00000343098.5	+	17	17441	c.17441C>T	c.(17440-17442)tCg>tTg	p.S5814L	FSIP2_ENST00000424728.1_Missense_Mutation_p.S5725L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGCAGGGATTCGGCACAGTCT	0.368000													5	52					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221551	63221551	+	Silent	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:63221551C>A	ENST00000449996.3	+	18	1902	c.1830C>A	c.(1828-1830)ccC>ccA	p.P610P	RGS9_ENST00000443584.3_Silent_p.P610P|RGS9_ENST00000262406.9_Silent_p.P613P	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	613					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGGTGCAGCCCCTGGGGGACG	0.607000													14	106					4.3838e-07	5.85539e-07	1	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816271	1816271	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:1816271G>A	ENST00000250894.4	+	22	2834	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E887K	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	893					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.E893K(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAGTCCACAGAGGAGGCCAC	0.647000													11	50					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23845835	23845835	+	Splice_Site	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:23845835C>A	ENST00000359788.4	-	2	297	c.130_splice	c.e2+1	p.L43_splice	ZNF675_ENST00000596211.1_Splice_Site_p.L43_splice|ZNF675_ENST00000601935.1_Splice_Site_p.L43_splice|ZNF675_ENST00000601010.1_Splice_Site_p.L43_splice|ZNF675_ENST00000600313.1_Splice_Site_p.L43_splice|ZNF675_ENST00000599168.1_Splice_Site_p.L43_splice	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	43	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATCCTTACCCAGGAAGACCA	0.408000													7	62					5.18039e-06	6.70612e-06	1	1	0
SNX29	92017	broad.mit.edu	37	16	12121206	12121206	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:12121206C>G	ENST00000566228.1	+	4	221	c.152C>G	c.(151-153)gCc>gGc	p.A51G		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CAGTTTGAAGCCGTCCTGCAG	0.567000													7	85					0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38028151	38028151	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:38028151C>T	ENST00000445217.1	+	4	626	c.591C>T	c.(589-591)ttC>ttT	p.F197F	ZNF793_ENST00000542455.1_Silent_p.F197F|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Silent_p.F197F			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAAGCTTTCACCCAGAACC	0.458000													4	27					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34451301	34451301	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:34451301C>A	ENST00000374012.3	+	6	916	c.787C>A	c.(787-789)Ccc>Acc	p.P263T	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.T241N			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACGAGGCAGACCCCCTTCCAT	0.448000													4	58					0.150653	0.154747	1	1	0
PLOD1	5351	broad.mit.edu	37	1	12016982	12016982	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:12016982G>T	ENST00000196061.4	+	7	679	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.V265L	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	218					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	p.V218M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGATGAGGTCGTGCTCAAGTT	0.597000													11	65					6.40141e-05	7.75556e-05	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140724834	140724834	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:140724834C>T	ENST00000253812.6	+	1	1234	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCTGGACCGCGAACAAAT	0.448000													19	45					0	0	1	0	0
PPIE	10450	broad.mit.edu	37	1	40209550	40209550	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:40209550A>T	ENST00000324379.5	+	6	357	c.338A>T	c.(337-339)aAt>aTt	p.N113I	PPIE_ENST00000356511.2_Missense_Mutation_p.N113I|PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000470213.1_Missense_Mutation_p.N113I|PPIE_ENST00000372830.1_Missense_Mutation_p.N113I	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	113					protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTGAAGAGAATAAAGAGGAA	0.488000													4	14					0	0	1	0	0
VPREB1	7441	broad.mit.edu	37	22	22599384	22599384	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr22:22599384C>G	ENST00000403807.3	+	2	212	c.73C>G	c.(73-75)Cag>Gag	p.Q25E	VPREB1_ENST00000302273.2_Missense_Mutation_p.Q24E			P12018	VPREB_HUMAN	pre-B lymphocyte 1	25	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		GGTGCTGCATCAGCCGCCGGC	0.617000													4	62					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718916	2718916	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr9:2718916C>G	ENST00000382082.3	+	1	1415	c.1177C>G	c.(1177-1179)Cac>Gac	p.H393D		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	393						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCTGGCGCGCCACTCCACCGG	0.647000													7	35					0	0	1	0	0
WDR55	54853	broad.mit.edu	37	5	140044602	140044602	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:140044602C>T	ENST00000358337.5	+	1	342	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	35					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAGACATCGTGCTGGAAG	0.662000													3	23					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259260	43259260	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:43259260T>A	ENST00000404209.4	-	4	964	c.868A>T	c.(868-870)Att>Ttt	p.I290F	PSG8_ENST00000306511.4_Missense_Mutation_p.I290F|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.I168F|PSG8_ENST00000401467.2_Missense_Mutation_p.I197F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	290	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGTTTTCAATGGGTCGCTTT	0.473000													40	140					0	0	1	0	0
BTG1	694	broad.mit.edu	37	12	92538060	92538060	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:92538060G>A	ENST00000256015.3	-	2	673	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	104					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				GGTCAACCCAGAGTGTGAGTT	0.512000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	82					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179602899	179602899	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:179602899T>C	ENST00000589042.1	-	49	14505	c.14281A>G	c.(14281-14283)Aga>Gga	p.R4761G	TTN_ENST00000342992.6_Missense_Mutation_p.R3517G|TTN_ENST00000342175.6_Missense_Mutation_p.R4590G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4398G|TTN_ENST00000359218.5_Missense_Mutation_p.R4523G|TTN_ENST00000591111.1_Missense_Mutation_p.R4444G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4444	Ig-like 28.						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)			ACCTGGGTTCTCAGGATTTCA	0.458000													6	37					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12262607	12262607	+	Silent	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:12262607A>T	ENST00000256194.4	+	18	2523	c.2235A>T	c.(2233-2235)atA>atT	p.I745I	MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Silent_p.I745I|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	745						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCTCAGGGATAGGTAAGCCGG	0.577000													21	84					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9863284	9863284	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chrX:9863284G>A	ENST00000380913.3	+	4	1426	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	446					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTTGGGCAGGAGCCAGGGGC	0.667000													7	66					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489395	128489395	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:128489395G>A	ENST00000325888.8	+	30	5223	c.4962G>A	c.(4960-4962)ctG>ctA	p.L1654L	FLNC_ENST00000346177.6_Silent_p.L1654L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1654					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGCCTGCCTGGGCCCTCGAA	0.677000													17	44					0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74732257	74732257	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:74732257C>T	ENST00000392485.2	-	2	824	c.652G>A	c.(652-654)Gcg>Acg	p.A218T	SRSF2_ENST00000508921.3_Missense_Mutation_p.A206T|SRSF2_ENST00000359995.5_Missense_Mutation_p.A218T|MFSD11_ENST00000586622.1_Intron|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	218	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GAGGACACCGCTCCTTCCTCT	0.507000			Mis		"""MDS, CLL"""								5	80					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880201	101880201	+	Silent	SNP	A	A	T	rs55806709		TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:101880201A>T	ENST00000551346.1	+	6	558	c.399A>T	c.(397-399)gtA>gtT	p.V133V	SPIC_ENST00000299272.5_Silent_p.V133V			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	133						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						TTCAGTGGGTAGATAAAACCA	0.418000													8	64					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19744511	19744511	+	Splice_Site	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr21:19744511A>T	ENST00000284885.3	-	6	696	c.664_splice	c.e6+1	p.C221_splice		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	221	LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGAACTTACCACACATTTTAT	0.428000													8	38					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789108	140789108	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:140789108G>A	ENST00000520790.1	+	1	1339	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_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)			TGACATCAACGACAACGCCCC	0.572000													11	66					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79349202	79349202	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:79349202G>T	ENST00000233735.1	+	4	375	c.272G>T	c.(271-273)aGt>aTt	p.S91I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	91	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ATTAAGGAGAGTGGCACTGAT	0.498000													8	67					5.18039e-06	6.70612e-06	1	1	0
WDR45B	56270	broad.mit.edu	37	17	80574409	80574409	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:80574409C>A	ENST00000392325.4	-	9	1113	c.919G>T	c.(919-921)Gcc>Tcc	p.A307S	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B									p.A307T(1)									CCAATGACGGCGTTTGGCTCT	0.547000													26	121					3.01185e-09	4.24805e-09	1	1	0
FRY	10129	broad.mit.edu	37	13	32869531	32869531	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr13:32869531G>T	ENST00000380250.3	+	61	9472	c.8976G>T	c.(8974-8976)agG>agT	p.R2992S	FRY_ENST00000380217.1_Missense_Mutation_p.R174S|FRY_ENST00000542859.1_Missense_Mutation_p.R362S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2992					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGATCCGCAGGGCCCAGAGTT	0.557000													8	42					0.00448238	0.00492541	1	1	0
ZNF790	388536	broad.mit.edu	37	19	37310663	37310663	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:37310663C>T	ENST00000356725.4	-	5	703	c.583G>A	c.(583-585)Gag>Aag	p.E195K	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CAGAATTTCTCACTTGTGTGA	0.343000													4	21					0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6220888	6220888	+	Silent	SNP	T	T	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:6220888T>C	ENST00000311352.2	+	1	513	c.435T>C	c.(433-435)tgT>tgC	p.C145C		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAAAGCCTGTGTGGGTTATG	0.552000													3	23					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42065980	42065980	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:42065980G>C	ENST00000395925.3	-	8	1144	c.1060C>G	c.(1060-1062)Ccc>Gcc	p.P354A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	354					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGAGAGACGGGCGCGGAAGAG	0.527000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	27					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187208871	187208871	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:187208871T>C	ENST00000264692.4	+	14	1787	c.1454T>C	c.(1453-1455)aTa>aCa	p.I485T	F11_ENST00000403665.2_Missense_Mutation_p.I537T|RP11-215A19.1_ENST00000505103.1_RNA			P03951	FA11_HUMAN	coagulation factor XI	537	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AAAGCCAAGATACCCTTAGTG	0.383000													5	42					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21207755	21207755	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:21207755G>T	ENST00000342679.4	+	8	835	c.586G>T	c.(586-588)Gtc>Ttc	p.V196F	MAP2K3_ENST00000361818.5_Missense_Mutation_p.V167F|MAP2K3_ENST00000316920.6_Missense_Mutation_p.V167F	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	196	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCCCTCCAATGTCCTTATCAA	0.582000													7	81					5.18039e-06	6.70612e-06	1	1	0
EDN3	1908	broad.mit.edu	37	20	57876712	57876712	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:57876712C>T	ENST00000311585.7	+	2	670	c.300C>T	c.(298-300)ttC>ttT	p.F100F	EDN3_ENST00000337938.2_Silent_p.F100F|EDN3_ENST00000395654.3_Silent_p.F100F|EDN3_ENST00000371025.3_Silent_p.F100F|EDN3_ENST00000371028.2_Silent_p.F100F	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	100					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GCACGTGCTTCACCTACAAGG	0.612000													19	136					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090615	238090615	+	RNA	SNP	T	T	C	rs2790341	byFrequency	TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:238090615T>C	ENST00000450451.1	+	0	2121					NR_027247.2																						TCAGGGTCACTCACACGGTGC	0.622000													3	29					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411697	51411697	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:51411697G>T	ENST00000319760.6	-	1	751	c.699C>A	c.(697-699)gcC>gcA	p.A233A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A233A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGTAGACAAGGCTTTACCCC	0.413000													10	46					0.0581538	0.0607241	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176743	140176743	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:140176743C>T	ENST00000526136.1	+	1	2194	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	PCDHA2_ENST00000378132.1_Missense_Mutation_p.R732C|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R732C	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGGTGCGCGCGCGCCAGG	0.682000													37	95					0	0	1	0	0
AMY1A	276	broad.mit.edu	37	1	104203096	104203096	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:104203096G>T	ENST00000370083.4	+	7	1213	c.993G>T	c.(991-993)tgG>tgT	p.W331C		NM_001008221.1|NM_004038.3	NP_001008222.1|NP_004029.2			amylase, alpha 1A (salivary)														all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TTACCTTCTGGGATGCTAGGT	0.378000													27	248					7.26314e-15	1.07665e-14	1	1	0
RBM26	64062	broad.mit.edu	37	13	79943016	79943016	+	Silent	SNP	T	T	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr13:79943016T>C	ENST00000438737.2	-	6	1184	c.744A>G	c.(742-744)gtA>gtG	p.V248V	RBM26_ENST00000267229.7_Silent_p.V248V|RBM26_ENST00000438724.1_Silent_p.V248V			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	248					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCAAAGTAGGTACAGGGTAGT	0.393000													10	40					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452820	138452820	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:138452820G>A	ENST00000344876.4	-	1	809	c.423C>T	c.(421-423)ctC>ctT	p.L141L	PCDH18_ENST00000412923.2_Silent_p.L141L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	141	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAATAGGTATGAGAGATCTTG	0.438000													6	43					0	0	1	0	0
CA14	23632	broad.mit.edu	37	1	150235474	150235474	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:150235474G>A	ENST00000369111.4	+	7	1566	c.596G>A	c.(595-597)aGa>aAa	p.R199K		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	199						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCAACCTAAGAGAGCTGCTC	0.527000													10	50					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39506827	39506827	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:39506827C>T	ENST00000007735.3	-	1	237	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	65	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCCAGGCGGTCGTTCAGGAAC	0.622000													12	140					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752040	247752040	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:247752040G>T	ENST00000320065.1	+	1	379	c.379G>T	c.(379-381)Gtg>Ttg	p.V127L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGACCGCTATGTGGCTGTCTG	0.537000													8	152					0.000442599	0.000513198	1	1	0
PHF20	51230	broad.mit.edu	37	20	34451132	34451132	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:34451132G>T	ENST00000374012.3	+	6	747	c.618G>T	c.(616-618)ggG>ggT	p.G206G	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Silent_p.G206G			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	206	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTGAAAAGGGGAAAGTGTCAG	0.403000													14	50					3.27435e-08	4.48444e-08	1	1	0
SMC1B	27127	broad.mit.edu	37	22	45795001	45795001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr22:45795001G>A	ENST00000357450.4	-	6	1086	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.R363*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	363					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCAATGTCTCGCTTTTTATGT	0.358000													7	61					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2696040	2696040	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:2696040G>A	ENST00000258796.7	+	11	1327	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	TTYH3_ENST00000407643.1_Silent_p.V342V|TTYH3_ENST00000403167.1_Silent_p.V203V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	374						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		AGGACTACGTGCAAGCGCTGA	0.637000													13	87					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148802473	148802473	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:148802473C>T	ENST00000378061.2	-	4	622	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	164					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGTCTGGATCATATGCTGTG	0.458000													9	78					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576528	158576528	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:158576528G>A	ENST00000361284.1	+	1	300	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGCTGCCCAGATGTTCTTTT	0.552000													8	151					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7437333	7437333	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:7437333C>A	ENST00000318881.6	+	4	1342	c.1105C>A	c.(1105-1107)Ctg>Atg	p.L369M		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	369	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGCTGGCAGGCTGACCATTAC	0.433000													5	58					0.014758	0.0156261	1	1	0
ZC3H13	23091	broad.mit.edu	37	13	46543990	46543990	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr13:46543990C>T	ENST00000242848.4	-	14	3037	c.2689G>A	c.(2689-2691)Gaa>Aaa	p.E897K	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E897K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	897							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTTTCCTTTCTGGTTTACGA	0.458000													11	173					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170961417	170961417	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:170961417G>T	ENST00000367759.4	+	12	1295	c.1141G>T	c.(1141-1143)Gta>Tta	p.V381L	MROH9_ENST00000367758.3_Missense_Mutation_p.V381L	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.V381I(1)									GGAGGACACCGTAACGGAAGG	0.473000													5	51					1	1	1	1	0
C1QB	713	broad.mit.edu	37	1	22987403	22987403	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:22987403G>T	ENST00000509305.1	+	3	626	c.280G>T	c.(280-282)Ggc>Tgc	p.G94C	C1QB_ENST00000314933.6_Missense_Mutation_p.G96C			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	96	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGCCCCATGGGCCCTAAAGG	0.622000													6	35					0.00116845	0.00130672	1	1	0
ATP2B3	492	broad.mit.edu	37	X	152845595	152845595	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chrX:152845595G>A	ENST00000263519.4	+	20	3628	c.3502G>A	c.(3502-3504)Gag>Aag	p.E1168K	ATP2B3_ENST00000349466.2_Missense_Mutation_p.E1168K|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1168					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACGAGAACGAGGAGCGCCT	0.592000													16	216					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55652963	55652963	+	Missense_Mutation	SNP	A	A	G	rs2063276	by1000genomes	TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:55652963A>G	ENST00000449290.2	+	2	151	c.59A>G	c.(58-60)aAc>aGc	p.N20S		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	20						intracellular	zinc ion binding										ATCTGCATGAACTACTTCCTA	0.502000													4	46					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094912	139094912	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:139094912A>C	ENST00000332797.6	+	1	256	c.101A>C	c.(100-102)cAa>cCa	p.Q34P		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	34										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TTCCGTAAACAAACGGAGCTG	0.647000													18	122					0	0	1	0	0
CCL1	6346	broad.mit.edu	37	17	32688871	32688871	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:32688871C>G	ENST00000225842.3	-	2	190	c.121G>C	c.(121-123)Gag>Cag	p.E41Q		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	41					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		AGGGGAATCTCTTGCTCCGCA	0.483000											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	90					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359433	72359433	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:72359433C>T	ENST00000001146.2	-	6	1665	c.1462G>A	c.(1462-1464)Gtc>Atc	p.V488I	CYP26B1_ENST00000546307.1_Missense_Mutation_p.V413I|CYP26B1_ENST00000412253.1_Missense_Mutation_p.V297I	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	488					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.V488I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AAGAACTTGACGCTGAGGCCA	0.652000													5	14					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6174856	6174856	+	Silent	SNP	T	T	C	rs5986	byFrequency	TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:6174856T>C	ENST00000264870.3	-	12	1969	c.1704A>G	c.(1702-1704)gaA>gaG	p.E568E		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	568					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.E568E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCTTCTTGAATTCTGCCTTCG	0.532000													6	123					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024895	9024895	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:9024895T>G	ENST00000397910.4	-	16	37170	c.36967A>C	c.(36967-36969)Agc>Cgc	p.S12323R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12325	SEA 2.				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						GTCAGTTTGCTTAGCTCCCAG	0.542000													8	91					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3846577	3846577	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:3846577A>T	ENST00000428216.2	+	7	1534	c.1406A>T	c.(1405-1407)cAc>cTc	p.H469L	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.H328L	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	469					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TTTGGGATCCACGTGGCTGAG	0.642000													5	55					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420236	56420236	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:56420236A>T	ENST00000407595.2	+	2	1403	c.901A>T	c.(901-903)Agc>Tgc	p.S301C	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	301	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCCAGGGAGCAGCCCCGAAAC	0.642000													14	112					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14613927	14613927	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:14613927C>T	ENST00000403951.2	-	20	2102	c.1683G>A	c.(1681-1683)agG>agA	p.R561R	DGKB_ENST00000258767.5_Silent_p.R561R|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Silent_p.R560R|DGKB_ENST00000406247.3_Silent_p.R561R|DGKB_ENST00000407950.1_Silent_p.R553R|DGKB_ENST00000444700.2_Silent_p.R542R|DGKB_ENST00000399322.3_Silent_p.R561R			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	561	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CAAACTTCCACCTGTCCAACA	0.363000													15	87					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890299	51890299	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:51890299C>G	ENST00000371117.3	-	32	4584	c.4309G>C	c.(4309-4311)Gga>Cga	p.G1437R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1437R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1437	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGTGGTCTCCCAAACTCAAA	0.527000													10	55					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8595209	8595209	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:8595209G>T	ENST00000338257.8	-	21	2466	c.2199C>A	c.(2197-2199)aaC>aaA	p.N733K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	733						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GATTGATGCTGTTGCGCCTCC	0.627000													12	195					1.08611e-07	1.46625e-07	1	1	0
NIN	51199	broad.mit.edu	37	14	51288688	51288688	+	Silent	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr14:51288688C>A	ENST00000245441.5	-	3	277	c.87G>T	c.(85-87)ggG>ggT	p.G29G	NIN_ENST00000453196.1_Silent_p.G29G|NIN_ENST00000382043.4_Silent_p.G29G|NIN_ENST00000324330.9_Silent_p.G29G|NIN_ENST00000389868.3_Silent_p.G29G|NIN_ENST00000382041.3_Silent_p.G29G|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.G29G	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	29	EF-hand 1.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTTCCTCCTGCCCCAGGGACC	0.582000			T	PDGFRB	MPD								16	209					1.5739e-10	2.2621e-10	1	1	0
ARFRP1	10139	broad.mit.edu	37	20	62332016	62332016	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:62332016G>C	ENST00000359715.4	-	6	1022	c.456C>G	c.(454-456)agC>agG	p.S152R	ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000440854.1_Missense_Mutation_p.S152R|ARFRP1_ENST00000324228.2_Missense_Mutation_p.S152R			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	152					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			TGGTGCAGTCGCTGAAGGCCG	0.677000													4	43					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887726	111887726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr3:111887726G>A	ENST00000305815.5	-	25	3487	c.3235C>T	c.(3235-3237)Cag>Tag	p.Q1079*	SLC9C1_ENST00000487372.1_Nonsense_Mutation_p.Q1031*	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1079					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTCTTTACCTGATGGCATGTT	0.323000													11	28					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481972	38481972	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:38481972G>T	ENST00000263409.4	-	20	3181	c.3019C>A	c.(3019-3021)Ctc>Atc	p.L1007I	LIFR_ENST00000453190.2_Missense_Mutation_p.L1007I	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1007					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTAATGGGGAGGTGCATCTGT	0.428000			T	PLAG1	salivary adenoma								6	66					0.217242	0.221341	1	1	0
FZD10	11211	broad.mit.edu	37	12	130647927	130647927	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:130647927G>C	ENST00000229030.4	+	1	924	c.440G>C	c.(439-441)tGc>tCc	p.C147S	FZD10_ENST00000539839.1_Silent_p.V114V			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	147	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AACTACCTGTGCATGGAGGCG	0.667000													14	137					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17590461	17590461	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:17590461G>A	ENST00000226299.4	+	7	998	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.E211K	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	242					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TTGGATTGAGGAACAGGCAAT	0.433000													7	61					0	0	1	0	0
LY6D	8581	broad.mit.edu	37	8	143866683	143866683	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:143866683C>A	ENST00000301263.4	-	3	416	c.341G>T	c.(340-342)gGg>gTg	p.G114V	LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	114					cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGGCCAGCCCCAGGCTGAG	0.657000													5	23					8.12818e-05	9.78488e-05	1	1	0
THBS2	7058	broad.mit.edu	37	6	169621551	169621551	+	Silent	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:169621551A>G	ENST00000366787.3	-	21	3594	c.3345T>C	c.(3343-3345)acT>acC	p.T1115T	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1115	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGGGCCTGTGAGTCAGGTGCC	0.537000													7	76					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44064756	44064756	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr22:44064756C>G	ENST00000262726.7	-	16	2063	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E452Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTTACCTCTCAGAAAGATCT	0.363000													9	49					0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40225010	40225010	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:40225010C>A	ENST00000221804.4	-	3	291	c.216G>T	c.(214-216)tgG>tgT	p.W72C		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	72	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		CCTGCTGCTTCCAGGCCCCAT	0.498000													8	134					0.00307968	0.00341384	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154395494	154395494	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:154395494A>T	ENST00000435029.4	+	1	2235	c.2075A>T	c.(2074-2076)aAc>aTc	p.N692I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	692	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTGAAAGAAACTTCCAGAAA	0.438000													16	64					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802575	185802575	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:185802575A>T	ENST00000302277.6	+	4	3046	c.2452A>T	c.(2452-2454)Aga>Tga	p.R818*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	818						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAAAGAGGCAGATTCCACCC	0.388000													6	31					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9780186	9780186	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:9780186G>T	ENST00000536656.1	+	11	1459	c.1251G>T	c.(1249-1251)ctG>ctT	p.L417L	PIK3CD_ENST00000377346.4_Silent_p.L452L|PIK3CD_ENST00000361110.2_Silent_p.L417L|PIK3CD_ENST00000543390.1_Silent_p.L119L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	452					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		AGGGCGAGCTGCTGAACCCCA	0.642000													7	82					8.12818e-05	9.78488e-05	1	1	0
NRP1	8829	broad.mit.edu	37	10	33515146	33515146	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:33515146C>T	ENST00000265371.4	-	8	1578	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	NRP1_ENST00000374816.3_Silent_p.K351K|NRP1_ENST00000374821.5_Silent_p.K351K|NRP1_ENST00000374822.4_Silent_p.K351K|NRP1_ENST00000374823.5_Silent_p.K351K|NRP1_ENST00000374867.2_Silent_p.K351K|NRP1_ENST00000395995.1_Silent_p.K351K			O14786	NRP1_HUMAN	neuropilin 1	351	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CATAATATTTCTTCTTGGTTT	0.473000													12	52					0	0	1	0	0
ZNF552	79818	broad.mit.edu	37	19	58319622	58319622	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:58319622G>C	ENST00000391701.1	-	3	1179	c.1010C>G	c.(1009-1011)tCt>tGt	p.S337C	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACGGAATGTAGAGCTGTGGGT	0.448000													4	48					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3846567	3846567	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:3846567T>G	ENST00000428216.2	+	7	1524	c.1396T>G	c.(1396-1398)Ttt>Gtt	p.F466V	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.F325V	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	466					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CGAGGGCACCTTTGGGATCCA	0.657000													6	53					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50255077	50255077	+	Missense_Mutation	SNP	G	G	C	rs138183674		TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:50255077G>C	ENST00000332853.3	-	7	811	c.788C>G	c.(787-789)cCc>cGc	p.P263R		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	263						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ATGGAACGTGGGGGCTATCGG	0.478000													13	145					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103006594	103006594	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:103006594A>G	ENST00000375735.2	+	17	2635	c.2491A>G	c.(2491-2493)Aga>Gga	p.R831G	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R831G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	831	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATGATTGATAGAAATGCAAG	0.338000													4	6					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539998	133539998	+	Silent	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:133539998C>A	ENST00000409261.1	-	14	4759	c.4386G>T	c.(4384-4386)gtG>gtT	p.V1462V	NCKAP5_ENST00000317721.6_Silent_p.V1462V|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1462							protein binding	p.V1462V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTCTGAACTCACAGCATCAG	0.498000													4	37					0.00909568	0.00968498	1	1	0
AGAP6	414189	broad.mit.edu	37	10	51769670	51769670	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:51769670C>T	ENST00000374056.4	+	7	2114	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	AGAP6_ENST00000412531.3_Silent_p.T595T			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	595					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.T595T(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TGCGGGCCACCGCTGATGAGG	0.627000													7	97					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513017	89513017	+	RNA	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:89513017G>T	ENST00000498435.1	-	0	272																											GAACCGAGATGGGACCCCTGA	0.468000													9	218					0.000442599	0.000513198	1	1	0
TARS	6897	broad.mit.edu	37	5	33458712	33458712	+	Silent	SNP	T	T	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:33458712T>C	ENST00000265112.3	+	10	1337	c.1026T>C	c.(1024-1026)agT>agC	p.S342S	TARS_ENST00000541634.1_Silent_p.S238S|TARS_ENST00000502553.1_Silent_p.S342S|TARS_ENST00000455217.2_Silent_p.S375S|TARS_ENST00000414361.2_Silent_p.S221S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	342					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GCCCTGGAAGTTGCTTTTTTC	0.333000													4	37					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80773110	80773110	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:80773110C>G	ENST00000466387.1	+	15	2186	c.1462C>G	c.(1462-1464)Cag>Gag	p.Q488E	CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q488E|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q522E|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q488E|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q488E|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q488E|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q167E			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	488					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTTCAAAGACCAGTGGGAGAA	0.517000													4	27					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405648	105405648	+	Silent	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr14:105405648A>G	ENST00000333244.5	-	7	16259	c.16140T>C	c.(16138-16140)tcT>tcC	p.S5380S	AHNAK2_ENST00000557457.1_Silent_p.S378S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5380						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTTAGGACAGAATCTTCCC	0.473000													4	31					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101578665	101578665	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:101578665A>C	ENST00000370449.4	+	18	2503	c.2390A>C	c.(2389-2391)aAa>aCa	p.K797T		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	797	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CATGTAGGAAAACATATTTTT	0.463000													9	45					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58109617	58109617	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:58109617T>A	ENST00000315970.7	+	6	695	c.654T>A	c.(652-654)taT>taA	p.Y218*	OS9_ENST00000439210.2_Nonsense_Mutation_p.Y159*|OS9_ENST00000551035.1_Nonsense_Mutation_p.Y185*|OS9_ENST00000389142.5_Nonsense_Mutation_p.Y218*|OS9_ENST00000389146.6_Nonsense_Mutation_p.Y218*|OS9_ENST00000435406.2_Nonsense_Mutation_p.Y166*|OS9_ENST00000413095.2_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000257966.8_Nonsense_Mutation_p.Y218*|OS9_ENST00000552285.1_Nonsense_Mutation_p.Y218*	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	218					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCTGCTCTTATGTGCTGACCA	0.607000													12	70					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154306585	154306585	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:154306585G>A	ENST00000368489.3	+	10	691	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	ATP8B2_ENST00000368487.3_Missense_Mutation_p.E198K|ATP8B2_ENST00000341822.2_Missense_Mutation_p.E217K|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	217					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGTTCAGGTGAAGTGATCTG	0.453000													36	196					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048533	238048533	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:238048533G>C	ENST00000366570.4	-	9	1401	c.1243C>G	c.(1243-1245)Cag>Gag	p.Q415E	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	415	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGAAGCGCTGGTGGTGAGAG	0.542000													6	30					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70587481	70587481	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:70587481G>T	ENST00000310961.5	+	27	4817	c.4399G>T	c.(4399-4401)Gta>Tta	p.V1467L	LRRC7_ENST00000415775.2_Missense_Mutation_p.V793L|LRRC7_ENST00000035383.5_Missense_Mutation_p.V1509L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1509	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACACAGTTTTGTACATATGGA	0.323000													3	28					0.115264	0.118719	1	1	0
CLVS2	134829	broad.mit.edu	37	6	123318870	123318870	+	Translation_Start_Site	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:123318870T>A	ENST00000275162.4	+	0	1283				CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CCAGGTTTGCTTTGGGACAGT	0.522000													4	40					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117266556	117266556	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr9:117266556G>A	ENST00000362057.3	-	1	694	c.526C>T	c.(526-528)Cta>Tta	p.L176L	DFNB31_ENST00000374057.3_Silent_p.L176L|DFNB31_ENST00000480518.1_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	176	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCTCAGCTAGAGAGCCTGGT	0.647000													16	78					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169707821	169707821	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:169707821G>A	ENST00000444448.2	+	13	1409	c.933G>A	c.(931-933)aaG>aaA	p.K311K	NOSTRIN_ENST00000458381.2_Silent_p.K311K|NOSTRIN_ENST00000445023.2_Silent_p.K176K|NOSTRIN_ENST00000397206.2_Silent_p.K176K|NOSTRIN_ENST00000421711.2_Silent_p.K226K|NOSTRIN_ENST00000397209.2_Silent_p.K226K|NOSTRIN_ENST00000317647.7_Silent_p.K254K			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	254					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CCATCAGCAAGATTGACATTG	0.418000													6	28					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158641868	158641868	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:158641868C>A	ENST00000368148.3	-	11	1649	c.1469G>T	c.(1468-1470)aGt>aTt	p.S490I	SPTA1_ENST00000368147.3_Missense_Mutation_p.S490I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	490					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTCATCCAACTGTCCACTTG	0.498000													5	71					0.0215528	0.0226304	1	1	0
ZNF773	374928	broad.mit.edu	37	19	58016028	58016028	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:58016028G>T	ENST00000599847.1	+	2	179	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	ZNF773_ENST00000598770.1_Splice_Site_p.G12_splice|ZNF773_ENST00000282292.4_Missense_Mutation_p.G13C|AC003005.4_ENST00000601674.1_Missense_Mutation_p.G55V|ZNF773_ENST00000593916.1_Splice_Site_p.G12_splice			Q6PK81	ZN773_HUMAN	zinc finger protein 773	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ATCTTAGCAGGGCTATGTGAC	0.517000													17	65					6.49762e-13	9.51977e-13	1	1	0
KAL1	3730	broad.mit.edu	37	X	8553414	8553414	+	Silent	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chrX:8553414C>G	ENST00000262648.3	-	6	899	c.750G>C	c.(748-750)ctG>ctC	p.L250L		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	250	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TTATGTCAGTCAGTTGAACTC	0.488000													6	38					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95188784	95188784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:95188784G>A	ENST00000027335.3	-	5	533	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	CDH17_ENST00000441892.2_Nonsense_Mutation_p.Q137*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.Q137*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	137	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CGAGAGTTCTGCCTTACTGAG	0.498000													19	86					0	0	1	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81613924	81613924	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:81613924G>T	ENST00000380167.4	+	10	1805	c.480G>T	c.(478-480)ctG>ctT	p.L160L	ATP6AP1L_ENST00000439350.1_Silent_p.L160L|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	160					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TGATCCTGCTGCTGGTGTTGG	0.552000													10	47					0.00621372	0.00673004	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43840411	43840411	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:43840411G>C	ENST00000389420.3	-	15	2183	c.2184C>G	c.(2182-2184)aaC>aaG	p.N728K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N728K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	728	Spacer.					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)		AATGAGAACTGTTGAAGACAC	0.368000													3	24					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744136	140744136	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:140744136G>A	ENST00000518069.1	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.602000													16	86					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339951	55339951	+	Silent	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:55339951G>C	ENST00000314634.3	+	1	348	c.348G>C	c.(346-348)acG>acC	p.T116T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCATCCTCACGGCTGTTGACC	0.507000													8	126					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11758417	11758417	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:11758417C>T	ENST00000381486.2	+	22	3716	c.3416C>T	c.(3415-3417)tCa>tTa	p.S1139L	GREB1_ENST00000396123.1_Missense_Mutation_p.S137L|GREB1_ENST00000234142.5_Missense_Mutation_p.S1139L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1139	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCTCAGGTTCAGCGCTCGGT	0.667000													6	42					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091983	143091983	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:143091983G>A	ENST00000367603.2	-	5	4635	c.3893C>T	c.(3892-3894)cCa>cTa	p.P1298L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1298L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1298L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGGTCTGATGGAAACTTTGG	0.493000													29	161					0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	8983324	8983324	+	Missense_Mutation	SNP	G	G	A	rs141788084	byFrequency	TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr3:8983324G>A	ENST00000264926.2	-	5	547	c.431C>T	c.(430-432)tCt>tTt	p.S144F	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	144					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTCTGATGTAGAACCACTCAT	0.408000								Rad6 pathway					6	76					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233404777	233404777	+	Missense_Mutation	SNP	C	C	T	rs140462342		TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:233404777C>T	ENST00000389494.3	+	2	152	c.131C>T	c.(130-132)gCg>gTg	p.A44V	CHRNG_ENST00000389492.3_Missense_Mutation_p.A44V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	44					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CTGCGGCCCGCGGAACGAGAC	0.632000													4	32					0	0	1	0	0
DUSP14	11072	broad.mit.edu	37	17	35872792	35872792	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:35872792T>A	ENST00000487847.1	+	2	1396	c.418T>A	c.(418-420)Tgg>Agg	p.W140R	DUSP14_ENST00000394386.1_Missense_Mutation_p.W140R|DUSP14_ENST00000394389.4_Missense_Mutation_p.W140R			O95147	DUS14_HUMAN	dual specificity phosphatase 14	140	Tyrosine-protein phosphatase.						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				GGCGTACAACTGGGTGAAAGC	0.567000													5	46					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134223521	134223521	+	Silent	SNP	G	G	C	rs143218475	by1000genomes	TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:134223521G>C	ENST00000358387.4	+	2	865	c.240G>C	c.(238-240)gcG>gcC	p.A80A	TXNDC15_ENST00000546290.1_Silent_p.A57A	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	80					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)			AGGCCAATGCGGTGCTGGGGC	0.617000													9	37					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023590	76023590	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:76023590A>C	ENST00000393004.2	-	5	2179	c.1958T>G	c.(1957-1959)tTg>tGg	p.L653W	FILIP1_ENST00000370020.1_Missense_Mutation_p.L554W|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.L653W			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	653										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTCTTCATCAAATCCCCTTC	0.423000													10	138					0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506462	107506462	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:107506462A>T	ENST00000265840.7	+	6	656	c.391A>T	c.(391-393)Aat>Tat	p.N131Y	ELMOD1_ENST00000531234.1_Missense_Mutation_p.N125Y|ELMOD1_ENST00000443271.2_Missense_Mutation_p.N131Y	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	131					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TGATTCTGATAATCCCCAACA	0.453000													7	25					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885959	45885959	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:45885959C>G	ENST00000418234.2	-	12	2352	c.2274G>C	c.(2272-2274)atG>atC	p.M758I	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.M758I	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	758	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCCCGCTGTTCATCAGCCCCA	0.667000													11	44					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819795	50819795	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:50819795C>A	ENST00000374115.3	+	1	1449	c.1009C>A	c.(1009-1011)Cct>Act	p.P337T	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	337					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GGCCTTCGTGCCTCATGTGCT	0.672000													7	94					0.000274275	0.000321975	1	1	0
NRG3	10718	broad.mit.edu	37	10	83635735	83635735	+	Silent	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:83635735A>T	ENST00000404547.1	+	1	639	c.639A>T	c.(637-639)ccA>ccT	p.P213P	NRG3_ENST00000372141.2_Silent_p.P213P			P56975	NRG3_HUMAN	neuregulin 3	213	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCCGGTGCCAGGAACTCCAA	0.652000													7	32					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933465	38933465	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:38933465G>A	ENST00000274276.3	+	18	3261	c.2859G>A	c.(2857-2859)ctG>ctA	p.L953L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	953					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAGTCTCCCTGCGTCTTGCCT	0.498000													29	116					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139609880	139609880	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:139609880G>T	ENST00000358430.3	-	2	389	c.157C>A	c.(157-159)Ccc>Acc	p.P53T		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	53						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GAGATATCGGGGTGCACACTT	0.532000													12	118					6.40141e-05	7.75556e-05	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113362114	113362114	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:113362114G>A	ENST00000458497.1	+	15	3859	c.3580G>A	c.(3580-3582)Gat>Aat	p.D1194N	ALPK1_ENST00000177648.9_Missense_Mutation_p.D1194N|ALPK1_ENST00000504176.2_Missense_Mutation_p.D1116N	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1194	Alpha-type protein kinase.						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)		CTACCTCACAGATCCCCAGAT	0.373000													12	80					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766327	77766327	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:77766327C>T	ENST00000521891.2	+	10	7618	c.7170C>T	c.(7168-7170)ccC>ccT	p.P2390P	ZFHX4_ENST00000518282.1_Silent_p.P2364P|ZFHX4_ENST00000050961.6_Silent_p.P2345P|ZFHX4_ENST00000455469.2_Silent_p.P2345P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2345	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2374P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGCACCCCCCTGATTCCAT	0.527000										HNSCC(33;0.089)			5	61					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128565196	128565196	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:128565196G>C	ENST00000335251.5	+	2	770	c.667G>C	c.(667-669)Ggt>Cgt	p.G223R	INTU_ENST00000296461.5_Missense_Mutation_p.G223R	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	223	PDZ.									breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TATGAAGAGCGGTCAGGTACT	0.483000													7	93					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137681289	137681289	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:137681289G>T	ENST00000239906.5	+	4	1340	c.912G>T	c.(910-912)aaG>aaT	p.K304N	FAM53C_ENST00000434981.2_Missense_Mutation_p.K304N|FAM53C_ENST00000513056.1_Missense_Mutation_p.R114I	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	304										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTTTGACAAGATGAATCAGG	0.577000													18	62					1.67942e-08	2.31686e-08	1	1	0
APOB	338	broad.mit.edu	37	2	21229381	21229381	+	Silent	SNP	A	A	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:21229381A>C	ENST00000233242.1	-	26	10486	c.10359T>G	c.(10357-10359)acT>acG	p.T3453T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3453	Heparin-binding.				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)	AGGAAGAGACAGTAGGTTTTG	0.388000													8	76					0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97156875	97156875	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:97156875G>A	ENST00000287020.5	-	2	1383	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	428					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ATAGAATGCTGATGGGAGTCA	0.602000													6	30					0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56206652	56206652	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:56206652G>T	ENST00000411543.2	+	11	2466	c.1919G>T	c.(1918-1920)gGg>gTg	p.G640V	EPN1_ENST00000085079.7_Missense_Mutation_p.G528V|EPN1_ENST00000270460.6_Missense_Mutation_p.G554V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	554					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCCTTGGCGGGGGCCCTGGC	0.706000													4	14					0.00909568	0.00968498	1	1	0
SPR	6697	broad.mit.edu	37	2	73118656	73118656	+	Missense_Mutation	SNP	A	A	T	rs139725344	byFrequency	TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:73118656A>T	ENST00000234454.5	+	3	849	c.776A>T	c.(775-777)tAt>tTt	p.Y259F	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	259					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						GTGGACTTCTATGACAAATAA	0.527000													4	37					0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41909947	41909947	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:41909947C>G	ENST00000381647.2	+	3	326	c.307C>G	c.(307-309)Ctt>Gtt	p.L103V	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	103										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GATTAGTTTTCTTTCAGAACC	0.328000													5	16					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	T	rs121913343		TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:7577121G>T	ENST00000420246.2	-	8	949	c.817C>A	c.(817-819)Cgt>Agt	p.R273S	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273S|TP53_ENST00000359597.4_Missense_Mutation_p.R273S|TP53_ENST00000269305.4_Missense_Mutation_p.R273S|TP53_ENST00000445888.2_Missense_Mutation_p.R273S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	12					0.00116845	0.00130672	1	1	0
PEG3	5178	broad.mit.edu	37	19	57327126	57327126	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:57327126A>G	ENST00000326441.9	-	10	3047	c.2684T>C	c.(2683-2685)gTc>gCc	p.V895A	PEG3_ENST00000598410.1_Missense_Mutation_p.V771A|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.V895A|PEG3_ENST00000593695.1_Missense_Mutation_p.V769A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	895					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACTCTGTATGACAGAGTCTTC	0.448000													13	43					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175446110	175446110	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:175446110G>A	ENST00000392547.2	-	3	208	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	WIPF1_ENST00000410117.1_Missense_Mutation_p.L37F|WIPF1_ENST00000409415.3_Missense_Mutation_p.L37F|WIPF1_ENST00000409891.1_Missense_Mutation_p.L37F|WIPF1_ENST00000359761.3_Missense_Mutation_p.L37F|WIPF1_ENST00000272746.5_Missense_Mutation_p.L37F|WIPF1_ENST00000392546.2_Missense_Mutation_p.L37F|AC018890.6_ENST00000412835.1_RNA|AC010894.5_ENST00000454203.1_RNA|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	37	WH2.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ATATCAGAAAGGAGAGCATTT	0.433000													12	92					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7241518	7241518	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:7241518G>A	ENST00000542285.1	-	6	979	c.830C>T	c.(829-831)aCc>aTc	p.T277I				P00736	C1R_HUMAN	complement component 1, r subcomponent	278	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATTGCTGCTGGTGTCGAGGTC	0.567000													3	7					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100273984	100273984	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chrX:100273984C>A	ENST00000338687.7	-	12	2034	c.1229G>T	c.(1228-1230)gGt>gTt	p.G410V	TRMT2B_ENST00000372931.5_Missense_Mutation_p.G455V|TRMT2B_ENST00000372935.1_Missense_Mutation_p.G455V|TRMT2B_ENST00000372936.3_Missense_Mutation_p.G455V|TRMT2B_ENST00000372939.1_Missense_Mutation_p.G410V|TRMT2B_ENST00000545398.1_Missense_Mutation_p.G455V			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	455							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AGTGGATTCACCATGGAGCTT	0.383000													7	60					0.00448238	0.00492541	1	1	0
NFIA	4774	broad.mit.edu	37	1	61743207	61743207	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:61743207A>T	ENST00000403491.3	+	3	1059	c.575A>T	c.(574-576)gAa>gTa	p.E192V	NFIA_ENST00000371191.1_Missense_Mutation_p.E215V|NFIA_ENST00000485903.2_Missense_Mutation_p.E192V|NFIA_ENST00000371189.4_Missense_Mutation_p.E237V|NFIA_ENST00000407417.3_Missense_Mutation_p.E184V|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000371185.2_Intron|NFIA_ENST00000371187.3_Missense_Mutation_p.E192V	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	192					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						AGTCAATCTGAAAGTCCCAGC	0.453000													11	39					0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39222551	39222551	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr22:39222551A>T	ENST00000333039.2	-	3	1175	c.1052T>A	c.(1051-1053)cTg>cAg	p.L351Q		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	351	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CGCCTCTAGCAGTACAATCTC	0.667000													7	78					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755604	146755604	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:146755604G>T	ENST00000361719.2	+	9	3727	c.3257G>T	c.(3256-3258)gGg>gTg	p.G1086V	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.G1086V|GRM1_ENST00000507907.1_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1086					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGCACCTTTGGGGAGGAGCTG	0.687000													16	83					1.33834e-09	1.90185e-09	1	1	0
RXFP3	51289	broad.mit.edu	37	5	33937059	33937059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:33937059G>T	ENST00000330120.3	+	1	569	c.214G>T	c.(214-216)Gag>Tag	p.E72*		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	72						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGCGGGGCAGAGAGCGCGGA	0.692000													11	59					4.68919e-08	6.37595e-08	1	1	0
GREB1	9687	broad.mit.edu	37	2	11706731	11706731	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:11706731G>A	ENST00000381486.2	+	4	703	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	GREB1_ENST00000263834.5_Missense_Mutation_p.A135T|GREB1_ENST00000381483.2_Missense_Mutation_p.A135T|GREB1_ENST00000234142.5_Missense_Mutation_p.A135T|GREB1_ENST00000389825.3_Missense_Mutation_p.A25T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	135						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTGGTGTGCGCCGTTGACAA	0.572000													16	101					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118606358	118606358	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:118606358G>T	ENST00000360388.4	+	7	1060	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	287					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		ACTGCTCTACGTTGGCTTTAG	0.522000											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	160					1.5842e-08	2.19351e-08	1	1	0
SLC44A1	23446	broad.mit.edu	37	9	108145506	108145506	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr9:108145506G>T	ENST00000374720.3	+	14	1982	c.1735G>T	c.(1735-1737)Gct>Tct	p.A579S	SLC44A1_ENST00000343170.7_Missense_Mutation_p.A371S|SLC44A1_ENST00000374724.1_Missense_Mutation_p.A579S|SLC44A1_ENST00000374723.1_Missense_Mutation_p.A579S	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	579						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTGCCTCTTTGCTTTCCTAGT	0.448000													26	96					7.01153e-11	1.01546e-10	1	1	0
TLL1	7092	broad.mit.edu	37	4	166960583	166960583	+	Silent	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:166960583A>T	ENST00000061240.2	+	10	1898	c.1251A>T	c.(1249-1251)tcA>tcT	p.S417S	TLL1_ENST00000507499.1_Silent_p.S417S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	417	CUB 1.				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)		GGAGAAAATCACCTCTCCTTG	0.378000													4	13					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684206	75684206	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:75684206G>T	ENST00000370855.5	-	17	1611	c.1498C>A	c.(1498-1500)Cca>Aca	p.P500T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.P370T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P500T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	500						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.P500A(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GTAAAAAGTGGATATCGTGGG	0.428000													9	111					5.4927e-09	7.68978e-09	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77762550	77762550	+	Silent	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:77762550C>A	ENST00000521891.2	+	9	4364	c.3916C>A	c.(3916-3918)Cgg>Agg	p.R1306R	ZFHX4_ENST00000518282.1_Silent_p.R1280R|ZFHX4_ENST00000050961.6_Silent_p.R1261R|ZFHX4_ENST00000455469.2_Silent_p.R1261R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1261						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAATCAGAGCGGGACACACC	0.488000										HNSCC(33;0.089)			5	18					0.00116845	0.00130672	1	1	0
TSHZ2	128553	broad.mit.edu	37	20	51870909	51870909	+	Silent	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:51870909T>A	ENST00000371497.5	+	2	1799	c.912T>A	c.(910-912)ccT>ccA	p.P304P	TSHZ2_ENST00000603338.2_Silent_p.P301P|TSHZ2_ENST00000329613.6_Silent_p.P301P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	304					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAAAGTGCCTTTGAAGGAGC	0.453000													25	41					0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29084070	29084070	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:29084070C>A	ENST00000306108.5	-	3	930	c.907G>T	c.(907-909)Gta>Tta	p.V303L	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	303							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CACTCTTCTACATGACTTAAT	0.378000													6	52					0.248553	0.251884	1	1	0
PRX	57716	broad.mit.edu	37	19	40902524	40902524	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:40902524C>T	ENST00000324001.7	-	7	2005	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	579	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTTTCATCTCTGGCACTTTC	0.552000													18	249					0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591111	56591111	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chrX:56591111C>T	ENST00000338222.5	+	1	1086	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	269						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TAATGCTTTACGGCGCATGTA	0.498000													7	44					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103246729	103246729	+	Splice_Site	SNP	C	C	G	rs62507269		TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:103246729C>G	ENST00000553106.1	-	7	1179		c.e7-1		PAH_ENST00000307000.2_Splice_Site	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase						catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCAGTGCAAGCTGGGATGAAA	0.527000													4	42					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71742879	71742879	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:71742879G>C	ENST00000258104.3	+	7	1067	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	DYSF_ENST00000410041.1_Missense_Mutation_p.E296Q|DYSF_ENST00000409744.1_Missense_Mutation_p.E265Q|DYSF_ENST00000409762.1_Missense_Mutation_p.E295Q|DYSF_ENST00000409366.1_Missense_Mutation_p.E265Q|DYSF_ENST00000394120.2_Missense_Mutation_p.E265Q|DYSF_ENST00000409582.3_Missense_Mutation_p.E295Q|DYSF_ENST00000409651.1_Missense_Mutation_p.E296Q|DYSF_ENST00000410020.3_Missense_Mutation_p.E296Q|DYSF_ENST00000429174.2_Missense_Mutation_p.E264Q|DYSF_ENST00000413539.2_Missense_Mutation_p.E295Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	264	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACTCTTCAATGAGGTGGGAGA	0.572000													6	58					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28212410	28212410	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:28212410G>C	ENST00000373921.3	+	6	1913	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	THEMIS2_ENST00000328928.7_Missense_Mutation_p.E508Q|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000492877.1_3'UTR	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		AGAAATACTTGAGCAATTTCA	0.438000													7	50					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76602787	76602787	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:76602787G>T	ENST00000287239.4	+	3	661	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C	KAT6B_ENST00000372714.1_Missense_Mutation_p.G58C|KAT6B_ENST00000372711.1_Missense_Mutation_p.G58C|KAT6B_ENST00000372725.1_Missense_Mutation_p.G58C|KAT6B_ENST00000372724.1_Missense_Mutation_p.G58C	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	58					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										TGTTCAGGATGGCTCAGTTCT	0.498000													10	56					0.000442599	0.000513198	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31424440	31424440	+	Silent	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:31424440C>A	ENST00000389202.2	+	16	1918	c.1869C>A	c.(1867-1869)gcC>gcA	p.A623A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	623					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGGGGTGGCCATGAGATTCA	0.627000													30	80					1.13719e-10	1.64068e-10	1	1	0
GPRC6A	222545	broad.mit.edu	37	6	117121829	117121829	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:117121829G>A	ENST00000310357.3	-	4	1487	c.1466C>T	c.(1465-1467)aCt>aTt	p.T489I	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.T314I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	489					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGCCATCTTAGTGACAGTCAT	0.398000													4	60					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451146	138451146	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:138451146G>T	ENST00000344876.4	-	1	2483	c.2097C>A	c.(2095-2097)tcC>tcA	p.S699S	PCDH18_ENST00000412923.2_Silent_p.S699S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.S479S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	699					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTATTATCATGGAGACATCCA	0.408000													10	103					0.000978159	0.00111705	1	1	0
KCNN4	3783	broad.mit.edu	37	19	44273593	44273593	+	Splice_Site	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:44273593C>A	ENST00000262888.3	-	6	1445		c.e6+1			NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4						defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GCGGCCCTCACGCGTTGATGG	0.577000													19	84					2.94398e-08	4.04664e-08	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121301936	121301936	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:121301936C>T	ENST00000297848.3	+	34	4437	c.4167C>T	c.(4165-4167)atC>atT	p.I1389I	COL14A1_ENST00000309791.4_Silent_p.I1389I|COL14A1_ENST00000247781.3_Silent_p.I1294I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1389	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCTAATATCACGTCAGATG	0.448000													11	70					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40716278	40716278	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:40716278C>T	ENST00000298910.7	+	37	5533	c.5475C>T	c.(5473-5475)atC>atT	p.I1825I		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1825					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)				ATCAAAAAATCTTACTTGATG	0.333000													4	54					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30490879	30490879	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:30490879G>A	ENST00000222823.4	-	6	2679	c.2154C>T	c.(2152-2154)taC>taT	p.Y718Y		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	718					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCCGCACGCCGTAGTCGTTGA	0.662000													13	69					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114383971	114383971	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:114383971G>T	ENST00000312719.5	-	4	1227	c.39C>A	c.(37-39)ctC>ctA	p.L13L	HS3ST5_ENST00000411826.1_Silent_p.L13L|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	13					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CCAGCACCAGGAGCTTCTGTC	0.547000													7	70					0.00198382	0.00220554	1	1	0
MIR518F	574472	broad.mit.edu	37	19	54203338	54203338	+	RNA	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:54203338G>A	ENST00000384973.1	+	0	70					NR_030194.1																						CTTCTCTTTAGAGGATTACTC	0.388000													9	29					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1089144	1089144	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:1089144C>A	ENST00000264930.5	-	4	485	c.442G>T	c.(442-444)Gct>Tct	p.A148S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	148					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGGACACCAGCCACCCCCACG	0.657000													22	94					2.98393e-07	4.01397e-07	1	1	0
ZHX2	22882	broad.mit.edu	37	8	123966129	123966129	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:123966129C>T	ENST00000314393.4	+	3	3214	c.2379C>T	c.(2377-2379)taC>taT	p.Y793Y		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	793						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGTGGATTACGTGGAGGTGA	0.607000													3	29					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19649988	19649988	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chrX:19649988G>A	ENST00000397821.3	-	8	1181	c.891C>T	c.(889-891)atC>atT	p.I297I	SH3KBP1_ENST00000379716.1_Silent_p.I59I|SH3KBP1_ENST00000379698.4_Silent_p.I260I|SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000379697.3_Silent_p.I341I|SH3KBP1_ENST00000541422.1_Silent_p.I36I	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	297	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTACCTTATTGATGAGAGTGA	0.383000													6	34					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167339407	167339407	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:167339407G>A	ENST00000367862.5	+	4	440	c.205G>A	c.(205-207)Gct>Act	p.A69T	POU2F1_ENST00000420254.3_Missense_Mutation_p.A57T|POU2F1_ENST00000541643.3_Missense_Mutation_p.A57T|POU2F1_ENST00000452019.1_Missense_Mutation_p.A57T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A80T|POU2F1_ENST00000429375.2_Missense_Mutation_p.A80T|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	57					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGTCCAACTCGCTGGAACAAG	0.373000													4	43					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57604561	57604561	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:57604561G>A	ENST00000243077.3	+	83	13281	c.12815G>A	c.(12814-12816)tGt>tAt	p.C4272Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4272	EGF-like 19.				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)	CAGCAGGTGTGTGCGGGCTAC	0.667000													6	81					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88902885	88902885	+	Silent	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:88902885C>A	ENST00000237623.7	+	5	581	c.433C>A	c.(433-435)Cga>Aga	p.R145R	SPP1_ENST00000360804.4_Silent_p.R132R|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Silent_p.R159R	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	159					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ATATGATGGCCGAGGTGATAG	0.458000													6	63					0.00116845	0.00130672	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2694620	2694620	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:2694620G>A	ENST00000399655.1	+	17	2683	c.2418G>A	c.(2416-2418)ctG>ctA	p.L806L	CACNA1C_ENST00000402845.3_Silent_p.L806L|CACNA1C_ENST00000399638.1_Silent_p.L806L|CACNA1C_ENST00000399606.1_Silent_p.L806L|CACNA1C_ENST00000327702.7_Silent_p.L806L|CACNA1C_ENST00000399637.1_Silent_p.L806L|CACNA1C_ENST00000344100.3_Silent_p.L806L|CACNA1C_ENST00000399603.1_Silent_p.L806L|CACNA1C_ENST00000399621.1_Silent_p.L806L|CACNA1C_ENST00000399617.1_Silent_p.L806L|CACNA1C_ENST00000399597.1_Silent_p.L806L|CACNA1C_ENST00000399634.1_Silent_p.L806L|CACNA1C_ENST00000399629.1_Silent_p.L806L|CACNA1C_ENST00000347598.4_Silent_p.L806L|CACNA1C_ENST00000399601.1_Silent_p.L806L|CACNA1C_ENST00000480911.1_Silent_p.L806L|CACNA1C_ENST00000399591.1_Silent_p.L806L|CACNA1C_ENST00000399649.1_Silent_p.L806L|CACNA1C_ENST00000399644.1_Silent_p.L806L|CACNA1C_ENST00000399641.1_Silent_p.L806L|CACNA1C_ENST00000335762.5_Silent_p.L831L|CACNA1C_ENST00000399595.1_Silent_p.L806L|CACNA1C_ENST00000406454.3_Silent_p.L806L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	806					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGATTGAGCTGAAATCCATCA	0.597000													5	15					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161816263	161816263	+	Silent	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:161816263A>G	ENST00000367942.3	+	10	1279	c.1212A>G	c.(1210-1212)agA>agG	p.R404R	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	404					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ATTCCAGGAGAATGAACCCTA	0.398000													7	32					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900933	51900933	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:51900933C>A	ENST00000268919.4	+	1	695	c.539C>A	c.(538-540)aCc>aAc	p.T180N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	180					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGTCAATACCAGAAACCCC	0.572000													9	90					0.000274275	0.000321975	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167168101	167168101	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:167168101C>A	ENST00000375387.4	-	2	506	c.166G>T	c.(166-168)Ggc>Tgc	p.G56C	SCN9A_ENST00000409672.1_Missense_Mutation_p.G56C|SCN9A_ENST00000409435.1_Missense_Mutation_p.G56C|SCN9A_ENST00000303354.6_Missense_Mutation_p.G56C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	56						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGCTGTTTGCCAGCTTCCAAG	0.478000													12	51					6.40141e-05	7.75556e-05	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248344004	248344004	+	Silent	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:248344004G>C	ENST00000359682.2	+	1	717	c.717G>C	c.(715-717)acG>acC	p.T239T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T239T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAGCTTTCACGACCTGTTCCT	0.488000													10	159					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441970	37441970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:37441970G>T	ENST00000415168.1	+	5	2099	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*	ZNF568_ENST00000333987.7_Nonsense_Mutation_p.E639*|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATACAGGTGAGAGACACCA	0.363000													4	35					1.23904e-05	1.57167e-05	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5464602	5464602	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:5464602G>T	ENST00000296564.7	+	13	5377	c.5155G>T	c.(5155-5157)Gcc>Tcc	p.A1719S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1719	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTTCTGTGCGGCCACGCCGAA	0.607000													9	77					0.00448238	0.00492541	1	1	0
TUBA4A	7277	broad.mit.edu	37	2	220115405	220115405	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:220115405C>T	ENST00000392088.2	-	4	1526	c.971G>A	c.(970-972)cGc>cAc	p.R324H	TUBA4A_ENST00000248437.4_Missense_Mutation_p.R339H	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	339					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAATGCTGCGCTTGGTCTT	0.602000													5	90					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34241661	34241661	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:34241661C>G	ENST00000374114.3	-	3	1847	c.1584G>C	c.(1582-1584)caG>caC	p.Q528H	CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.Q528H|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.Q528H|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	528						nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCATTTCCCTCTGGTCATAGC	0.388000													21	121					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111495	142111495	+	RNA	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:142111495C>T	ENST00000390378.1	-	0	240																											GAGAATTGATCAGGGAAGTTT	0.512000													9	82					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19552091	19552091	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:19552091T>C	ENST00000536433.1	-	2	3856	c.746A>G	c.(745-747)cAc>cGc	p.H249R	OSR1_ENST00000272223.2_Missense_Mutation_p.H249R			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	249					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TAGCGTCTTGTGGACAGCGAG	0.512000													9	64					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53591561	53591561	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chrX:53591561C>G	ENST00000342160.3	-	50	7460	c.7003G>C	c.(7003-7005)Gag>Cag	p.E2335Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2335Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2335	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGAGCACCTCAGGCTGCCCA	0.572000													4	41					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19557737	19557737	+	Silent	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:19557737T>A	ENST00000396212.2	+	13	3217	c.2781T>A	c.(2779-2781)gcT>gcA	p.A927A	CCP110_ENST00000381396.5_Silent_p.A927A|CCP110_ENST00000396208.2_Silent_p.A927A	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	927					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GTGTTAGAGCTGCTGAAATGG	0.308000													4	38					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	721684	721684	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:721684G>T	ENST00000533256.1	+	11	1263	c.888G>T	c.(886-888)gcG>gcT	p.A296A	EPS8L2_ENST00000526198.1_Silent_p.A312A|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.A296A|EPS8L2_ENST00000530636.1_Silent_p.A296A			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	296						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAAGAAGGCGCCAGCAGGTG	0.667000													7	37					0.248553	0.251884	1	1	0
ARSK	153642	broad.mit.edu	37	5	94922416	94922416	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:94922416G>T	ENST00000380009.4	+	5	1055	c.850G>T	c.(850-852)Gct>Tct	p.A284S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	284						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TGCTATGTGTGCTGAGACAGA	0.313000													6	21					0.000157383	0.000187078	1	1	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976374	89976374	+	RNA	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:89976374G>C	ENST00000474213.1	+	0	280																											TGGGACTCTGGGGTCCCAGAC	0.493000													25	129					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8872022	8872022	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:8872022C>A	ENST00000256707.3	-	30	4325	c.4144G>T	c.(4144-4146)Gag>Tag	p.E1382*	KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.E1363*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.E1363*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.E1283*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1382					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCTATACTCGGCCTGCACC	0.468000													6	77					5.9392e-07	7.87725e-07	1	1	0
CLEC12A	160364	broad.mit.edu	37	12	10124250	10124250	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:10124250G>T	ENST00000304361.4	+	1	237	c.55G>T	c.(55-57)Gaa>Taa	p.E19*	CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.E19*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.E29*|CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.E19*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	19						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CAGTGAGATGGAAAAAATCCC	0.323000													5	24					0.014758	0.0156261	1	1	0
CDH12	1010	broad.mit.edu	37	5	22078688	22078688	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:22078688G>T	ENST00000382254.1	-	5	1184	c.98C>A	c.(97-99)aCa>aAa	p.T33K	CDH12_ENST00000504376.2_Missense_Mutation_p.T33K|CDH12_ENST00000522262.1_Missense_Mutation_p.T33K	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	33					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTGGCTCTGTGGCTAAAGT	0.458000										HNSCC(59;0.17)			25	113					3.28513e-13	4.8507e-13	1	1	0
ARL2BP	23568	broad.mit.edu	37	16	57282508	57282508	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:57282508G>C	ENST00000219204.3	+	3	430	c.160G>C	c.(160-162)Gac>Cac	p.D54H	RP11-407G23.3_ENST00000564376.1_RNA|ARL2BP_ENST00000562023.1_Intron	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	54					maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						GGAGTTTGAAGACACAGAAGA	0.338000													4	42					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739532	46739532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:46739532C>A	ENST00000306448.4	-	2	1432	c.319G>T	c.(319-321)Gag>Tag	p.E107*	ATP6V1E2_ENST00000522587.1_Nonsense_Mutation_p.E107*	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	107					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCTGGGTCCTCCACAATCCTG	0.562000													6	64					0.00116845	0.00130672	1	1	0
NTSR1	4923	broad.mit.edu	37	20	61386136	61386136	+	Missense_Mutation	SNP	G	G	A	rs149394345		TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:61386136G>A	ENST00000370501.3	+	2	1185	c.814G>A	c.(814-816)Gag>Aag	p.E272K		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	272						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCAGGCGGCCGAGCAGGGCCA	0.632000													9	70					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570527	136570527	+	Splice_Site	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:136570527C>G	ENST00000264162.2	-	7	1718		c.e7-1			NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGTGAGCCACCTTGTGAAAAA	0.443000													3	23					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167250715	167250715	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr3:167250715G>T	ENST00000308378.3	-	8	1254	c.949C>A	c.(949-951)Cac>Aac	p.H317N	WDR49_ENST00000453925.2_Missense_Mutation_p.H381N|WDR49_ENST00000476376.1_Missense_Mutation_p.H142N|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	317										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGAACATGGTGAGCATTCTCT	0.383000													4	19					0.00909568	0.00968498	1	1	0
ASAP1	50807	broad.mit.edu	37	8	131073028	131073028	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:131073028C>A	ENST00000357668.1	-	27	3016	c.2989G>T	c.(2989-2991)Gac>Tac	p.D997Y	ASAP1_ENST00000518721.1_Missense_Mutation_p.D997Y			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	997					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCTAGCAGGTCTCCCAGCTGT	0.557000													14	133					1.5842e-08	2.19351e-08	1	1	0
PALB2	79728	broad.mit.edu	37	16	23647587	23647587	+	Missense_Mutation	SNP	C	C	G	rs45602040		TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:23647587C>G	ENST00000261584.4	-	4	432	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	94	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GATGTCTTTTCTCCAGTTTCT	0.368000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					3	18					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74315733	74315733	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr3:74315733A>T	ENST00000263665.6	-	21	2912	c.2885T>A	c.(2884-2886)cTt>cAt	p.L962H	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	962	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGCAGCACAAGTTCAGCTGA	0.393000													16	74					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21425017	21425017	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr18:21425017A>G	ENST00000313654.9	+	30	3889	c.3648A>G	c.(3646-3648)atA>atG	p.I1216M	LAMA3_ENST00000399516.3_Missense_Mutation_p.I1216M	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1216	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTACCAAATACTTCACAAAA	0.418000													6	24					0	0	1	0	0
PRDX2	7001	broad.mit.edu	37	19	12910718	12910718	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:12910718G>A	ENST00000301522.2	-	5	594	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	156	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						ACCAGCCGCAGAGCCTCATCC	0.552000													5	52					0	0	1	0	0
B3GNT2	10678	broad.mit.edu	37	2	62450361	62450361	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:62450361A>G	ENST00000301998.4	+	2	1258	c.1006A>G	c.(1006-1008)Act>Gct	p.T336A	B3GNT2_ENST00000405767.1_Missense_Mutation_p.T336A	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	336						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)			TGACGTTTATACTGGAATGTG	0.498000													12	50					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599620	3599620	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:3599620G>A	ENST00000302006.3	+	2	610	c.558G>A	c.(556-558)aaG>aaA	p.K186K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	186						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCGCCTCAAGAAGGAGAACA	0.642000													10	86					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11933743	11933743	+	Missense_Mutation	SNP	C	C	G	rs34999527	byFrequency	TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:11933743C>G	ENST00000571133.1	-	8	1027	c.955G>C	c.(955-957)Gat>Cat	p.D319H	RSL1D1_ENST00000542106.1_Missense_Mutation_p.D99H	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	319					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GCCACATCATCTTTACTAAGA	0.433000													10	124					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731832	140731832	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:140731832C>A	ENST00000523390.1	+	1	2005	c.2005C>A	c.(2005-2007)Cca>Aca	p.P669T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGTATTGCCAGACCTCAG	0.622000													36	133					4.65686e-17	6.93029e-17	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100551923	100551923	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:100551923C>T	ENST00000319509.7	+	1	674	c.674C>T	c.(673-675)gCa>gTa	p.A225V						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTACAAATGCAATCTTGACT	0.423000													55	418					0	0	1	0	0
NPPC	4880	broad.mit.edu	37	2	232790146	232790146	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:232790146G>T	ENST00000409852.1	-	2	523	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	NPPC_ENST00000295440.2_Missense_Mutation_p.L124M	NM_024409.2	NP_077720.1	P23582	ANFC_HUMAN	natriuretic peptide C	124					cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction		hormone activity						all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		TAACATCCCAGGCCGCTCATG	0.701000													7	25					5.18039e-06	6.70612e-06	1	1	0
USH2A	7399	broad.mit.edu	37	1	216251655	216251655	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:216251655G>T	ENST00000366943.2	-	27	5734	c.5348C>A	c.(5347-5349)gCc>gAc	p.A1783D	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.A1783D|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1783	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTGTAAAGGCAAGACTGGT	0.358000										HNSCC(13;0.011)			11	168					0.000673444	0.0007714	1	1	0
ZNF585A	199704	broad.mit.edu	37	19	37643966	37643966	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:37643966A>C	ENST00000356958.4	-	5	1093	c.835T>G	c.(835-837)Ttc>Gtc	p.F279V	ZNF585A_ENST00000292841.5_Missense_Mutation_p.F224V|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.F224V|ZNF585A_ENST00000392157.2_Missense_Mutation_p.F224V			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTGGATGAAGGCCTGTCCG	0.433000													10	156					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532244	40532244	+	Missense_Mutation	SNP	G	G	T	rs142947345	byFrequency	TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:40532244G>T	ENST00000297737.6	-	5	702	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	186						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCCATATCCAGGGTTGTCCCC	0.458000													14	79					1.5842e-08	2.19351e-08	1	1	0
RNF213	57674	broad.mit.edu	37	17	78262505	78262505	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:78262505G>A	ENST00000582970.1	+	5	1027	c.884G>A	c.(883-885)aGa>aAa	p.R295K	RNF213_ENST00000508628.2_Missense_Mutation_p.R344K|RNF213_ENST00000456466.1_Missense_Mutation_p.R295K|RNF213_ENST00000319921.4_Missense_Mutation_p.R295K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	295										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGACCCAGAGAATGAAACAG	0.567000													9	75					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38205989	38205989	+	Missense_Mutation	SNP	T	T	C	rs2285178	by1000genomes	TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr22:38205989T>C	ENST00000323205.6	+	2	293	c.230T>C	c.(229-231)tTg>tCg	p.L77S	GCAT_ENST00000248924.6_Intron|GCAT_ENST00000415371.1_Intron	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	66					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGCCTGCCCTTGCCCCACCTG	0.557000													3	15					0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99422667	99422667	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:99422667G>A	ENST00000370631.3	+	5	983	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	PI4K2A_ENST00000555577.1_Missense_Mutation_p.R279Q|PI4K2A_ENST00000370649.3_Missense_Mutation_p.R279Q	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	309	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTCACAGATCGAGGCAATGAC	0.388000													6	54					0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350776	21350776	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr9:21350776G>T	ENST00000380210.1	-	1	601	c.111C>A	c.(109-111)acC>acA	p.T37T		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	37					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGAGCATCATGGTCCTCCTGT	0.522000													9	82					0.00621372	0.00673004	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46780964	46780964	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:46780964C>T	ENST00000529230.1	-	34	4469	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K	CKAP5_ENST00000415402.1_Missense_Mutation_p.E1475K|CKAP5_ENST00000354558.3_Missense_Mutation_p.E1475K|CKAP5_ENST00000312055.5_Missense_Mutation_p.E1475K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1475					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						TGGGCTGCCTCAGGATGCCCA	0.498000													6	48					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62812669	62812669	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:62812669G>T	ENST00000512091.1	+	15	3000	c.2253G>T	c.(2251-2253)ttG>ttT	p.L751F	LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000511324.1_Missense_Mutation_p.L819F|LPHN3_ENST00000545650.1_Missense_Mutation_p.L751F|LPHN3_ENST00000506700.1_Missense_Mutation_p.L751F|LPHN3_ENST00000504896.1_Missense_Mutation_p.L751F|LPHN3_ENST00000506746.1_Missense_Mutation_p.L819F|LPHN3_ENST00000514996.1_Missense_Mutation_p.L751F|LPHN3_ENST00000514157.1_Missense_Mutation_p.L751F|LPHN3_ENST00000509896.1_Missense_Mutation_p.L819F|LPHN3_ENST00000514591.1_Missense_Mutation_p.L751F|LPHN3_ENST00000508946.1_Missense_Mutation_p.L751F|LPHN3_ENST00000507164.1_Missense_Mutation_p.L819F|LPHN3_ENST00000506720.1_Missense_Mutation_p.L819F|LPHN3_ENST00000508693.1_Missense_Mutation_p.L819F|LPHN3_ENST00000507625.1_Missense_Mutation_p.L819F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	738					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACAACTTGGGTCCTTATT	0.393000													13	87					6.31663e-08	8.55801e-08	1	1	0
POTEG	404785	broad.mit.edu	37	14	19563543	19563543	+	Splice_Site	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr14:19563543T>A	ENST00000409832.3	+	5	1107		c.e5+2		CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCATAATGTGTAAGTGTTTAC	0.338000													12	160					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37595648	37595648	+	Splice_Site	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr21:37595648G>T	ENST00000399151.3	+	11	1455	c.1370_splice	c.e11+1	p.R457_splice		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	457					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAATGCTTTAGGTAAGTATGC	0.343000													6	30					3.59834e-05	4.445e-05	1	1	0
ZSCAN30	100101467	broad.mit.edu	37	18	32833591	32833591	+	Silent	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr18:32833591A>T	ENST00000420878.3	-	5	1763	c.1308T>A	c.(1306-1308)acT>acA	p.T436T	ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000592264.1_Intron|ZSCAN30_ENST00000333206.5_Silent_p.T436T|ZNF397_ENST00000261333.6_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	436					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						GTTTCTCTCCAGTGTGAATTC	0.393000													6	37					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275159	114275159	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:114275159G>T	ENST00000357077.4	+	38	5438	c.5385G>T	c.(5383-5385)gaG>gaT	p.E1795D	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1762D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1762	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGGCAAGGAGGACGTGCCAA	0.517000													14	115					1.49906e-05	1.89513e-05	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92763399	92763399	+	Missense_Mutation	SNP	C	C	A	rs142436298	by1000genomes	TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:92763399C>A	ENST00000318238.4	-	5	3102	c.1886G>T	c.(1885-1887)cGg>cTg	p.R629L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R629L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R629L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	629										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTGATGACCGAGTCACCGA	0.388000													7	78					0.000157383	0.000187078	1	1	0
PRDM15	63977	broad.mit.edu	37	21	43248563	43248563	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr21:43248563C>A	ENST00000422911.1	-	13	1765	c.1664G>T	c.(1663-1665)cGc>cTc	p.R555L	PRDM15_ENST00000447207.2_Missense_Mutation_p.R498L|PRDM15_ENST00000538201.1_Missense_Mutation_p.R518L|PRDM15_ENST00000269844.3_Missense_Mutation_p.R864L|PRDM15_ENST00000398548.1_Missense_Mutation_p.R535L			P57071	PRD15_HUMAN	PR domain containing 15	864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R864L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GACGTCCTTGCGGTAGAACAT	0.612000													18	163					6.49762e-13	9.51977e-13	1	1	0
BEST3	144453	broad.mit.edu	37	12	70072620	70072620	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:70072620G>C	ENST00000330891.5	-	5	761	c.535C>G	c.(535-537)Ctg>Gtg	p.L179V	BEST3_ENST00000331471.4_Missense_Mutation_p.L179V|BEST3_ENST00000553096.1_Missense_Mutation_p.L73V|BEST3_ENST00000488961.1_Missense_Mutation_p.L17V|BEST3_ENST00000476098.1_Missense_Mutation_p.L17V	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	179						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAATATTTCAGATGAGGAGAC	0.363000													3	26					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65983735	65983735	+	Splice_Site	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:65983735G>A	ENST00000320580.4	+	5	838		c.e5+1			NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1						interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAGCTTTCTGGTAAGAAGCAT	0.498000													5	33					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757020	71757020	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:71757020C>T	ENST00000318442.5	-	2	794	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTGTTCTCCTCTGAGTGGAGG	0.582000													18	189					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149486261	149486261	+	RNA	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:149486261G>T	ENST00000378016.2	+	0	4237							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGTTGTGCCGCCCCAGGCTG	0.662000													3	24					1	1	1	1	0
SCRG1	11341	broad.mit.edu	37	4	174312422	174312422	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:174312422C>T	ENST00000296506.2	-	2	626	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1	48					nervous system development	extracellular space				large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		CAATCTGTGTCAGGTCAGCTA	0.468000													15	100					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160085324	160085324	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:160085324G>C	ENST00000263635.6	+	26	4305	c.4068G>C	c.(4066-4068)gaG>gaC	p.E1356D	TANC1_ENST00000454300.1_Missense_Mutation_p.E1250D	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1356						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCATGGCAGAGGAATTTGCTT	0.483000													9	116					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766303	57766303	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:57766303C>T	ENST00000371030.2	+	1	229	c.229C>T	c.(229-231)Cta>Tta	p.L77L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	77	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)					CCGCGCCCCGCTAGTGACGGG	0.716000													7	13					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674605	4674605	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:4674605G>T	ENST00000530215.1	+	2	220	c.179G>T	c.(178-180)tGc>tTc	p.C60F	OR51E1_ENST00000396952.5_Silent_p.L283L			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATCTATCTGCTGGTTCCTC	0.493000													14	84					4.3838e-07	5.85539e-07	1	1	0
TM9SF3	56889	broad.mit.edu	37	10	98311145	98311145	+	Silent	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:98311145A>G	ENST00000371142.4	-	7	1032	c.816T>C	c.(814-816)taT>taC	p.Y272Y	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	272						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GTTTCCATCCATATTCATCTC	0.343000													13	56					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163297277	163297277	+	Splice_Site	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:163297277G>A	ENST00000271452.3	+	3	402		c.e3-1		NUF2_ENST00000490881.1_Splice_Site|NUF2_ENST00000524800.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTTTGCTGTAGCCTGAAGTCT	0.338000													4	46					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675703	21675703	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chrX:21675703G>T	ENST00000379499.2	-	1	745	c.204C>A	c.(202-204)cgC>cgA	p.R68R		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	68	BTB.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GGTGGATCACGCGCGCCCGGG	0.642000													5	26					0.0215528	0.0226304	1	1	0
A2ML1	144568	broad.mit.edu	37	12	9001397	9001397	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:9001397T>A	ENST00000299698.7	+	16	2095	c.1915T>A	c.(1915-1917)Tgg>Agg	p.W639R	A2ML1_ENST00000539547.1_Missense_Mutation_p.W148R	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	483						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTCTGGCCCATGGGACTTTCC	0.542000													15	154					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097975	43097975	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:43097975C>A	ENST00000244336.5	-	2	243	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	48	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				ACCTCCTTCCCCTCTGCAGCA	0.537000													37	184					4.65686e-17	6.93029e-17	1	1	0
NUDT3	11165	broad.mit.edu	37	6	34256708	34256708	+	Splice_Site	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:34256708C>A	ENST00000607016.1	-	5	652	c.340_splice	c.e5-1	p.G114_splice	RP1-187N21.4_ENST00000605528.1_Splice_Site_p.G233_splice	NM_006703.3	NP_006694.1			nudix (nucleoside diphosphate linked moiety X)-type motif 3											lung(2)	2						CCTCTTCCTTCCTGTGGAGGC	0.378000													3	24					0.115264	0.118719	1	1	0
SFTPA1	653509	broad.mit.edu	37	10	81372965	81372965	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:81372965G>A	ENST00000398636.3	+	5	451	c.313G>A	c.(313-315)Gag>Aag	p.E105K	SFTPA1_ENST00000428376.2_Missense_Mutation_p.E105K|SFTPA1_ENST00000372308.3_Missense_Mutation_p.E105K|SFTPA1_ENST00000372313.5_Missense_Mutation_p.E46K|SFTPA1_ENST00000419470.2_Missense_Mutation_p.E120K	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	105					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCATCTAGATGAGGAGCTCCA	0.582000													12	100					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33372926	33372926	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:33372926C>T	ENST00000428849.2	+	7	1504	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	352	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TAGCCTCTCCCGGTCTGACGA	0.657000													12	124					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198540074	198540074	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:198540074C>T	ENST00000295049.3	-	1	645	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	37						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						AATACATATTCGTAAGCAAAT	0.363000													12	69					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61340858	61340858	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr20:61340858C>T	ENST00000370501.3	+	1	670	c.299C>T	c.(298-300)aCg>aTg	p.T100M		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	100						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CTGCAGAGCACGGTGCATTAC	0.662000													7	42					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49084908	49084908	+	Splice_Site	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr13:49084908C>A	ENST00000344532.3	-	10	1207		c.e10-1		RCBTB2_ENST00000430805.2_Splice_Site|RCBTB2_ENST00000544904.1_Intron|RCBTB2_ENST00000544492.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2								Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACAGGCGACCTGGAAGGAAA	0.408000													7	33					0.00198382	0.00220554	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18276529	18276529	+	Silent	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:18276529C>A	ENST00000377369.2	+	7	1491	c.1218C>A	c.(1216-1218)ggC>ggA	p.G406G	SLC39A12_ENST00000377371.3_Silent_p.G406G|SLC39A12_ENST00000377374.4_Silent_p.G406G|SLC39A12_ENST00000539911.1_Silent_p.G272G	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	406					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGTTTGTGGGCTTGGCCGTCG	0.517000													10	85					1.58986e-06	2.09397e-06	1	1	0
NUP205	23165	broad.mit.edu	37	7	135279335	135279335	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:135279335G>A	ENST00000285968.6	+	13	1897	c.1871G>A	c.(1870-1872)tGg>tAg	p.W624*	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	624					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CACCCTCAGTGGACCCCTGTT	0.433000													7	72					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65845193	65845193	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:65845193G>A	ENST00000395325.3	+	5	638	c.481G>A	c.(481-483)Gtt>Att	p.V161I	DNAJC6_ENST00000263441.7_Missense_Mutation_p.V148I|DNAJC6_ENST00000371069.4_Missense_Mutation_p.V218I	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	161	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AAATGTCTGTGTTGTCCACTG	0.448000													20	125					0	0	1	0	0
STX12	23673	broad.mit.edu	37	1	28148839	28148839	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:28148839G>A	ENST00000373943.4	+	9	955	c.830G>A	c.(829-831)tGa>tAa	p.*277*		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	0					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACGAAGTGATTGCCTCCG	0.418000													4	53					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974827	44974827	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr14:44974827G>T	ENST00000340446.4	-	1	1655	c.1364C>A	c.(1363-1365)aCt>aAt	p.T455N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	455						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGAAATTCAGTAGGAGCCTC	0.498000													3	23					0.004672	0.00510409	1	1	0
GPR84	53831	broad.mit.edu	37	12	54757122	54757122	+	Missense_Mutation	SNP	G	G	T	rs112690043		TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:54757122G>T	ENST00000551809.1	-	1	1149	c.514C>A	c.(514-516)Cgc>Agc	p.R172S	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R172S			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	172						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCTCGGATGCGGTCAAAGCTG	0.577000													8	33					5.4927e-09	7.68978e-09	1	1	0
GAK	2580	broad.mit.edu	37	4	860221	860221	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:860221C>A	ENST00000314167.4	-	22	3084	c.2974G>T	c.(2974-2976)Gtc>Ttc	p.V992F	GAK_ENST00000511163.1_Missense_Mutation_p.V913F|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	992					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GATGGTGGGACGGTCACAGAG	0.617000													12	51					5.50884e-06	7.08279e-06	1	1	0
ZNF223	7766	broad.mit.edu	37	19	44531239	44531239	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:44531239C>T	ENST00000591793.1	+	2	190	c.107C>T	c.(106-108)cCt>cTt	p.P36L	ZNF222_ENST00000187879.8_Missense_Mutation_p.P27L|ZNF222_ENST00000590160.1_3'UTR|ZNF222_ENST00000587846.1_Missense_Mutation_p.P36L|ZNF222_ENST00000391960.3_Missense_Mutation_p.P36L			Q9UK11	ZN223_HUMAN	zinc finger protein 223	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTGCTGGACCCTGCCCAGAGG	0.557000													34	162					0	0	1	0	0
HOXD8	3234	broad.mit.edu	37	2	176996316	176996316	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:176996316C>T	ENST00000313173.4	+	2	1476	c.849C>T	c.(847-849)gaC>gaT	p.D283D	HOXD8_ENST00000450510.2_Silent_p.D282D|HOXD8_ENST00000429017.1_Silent_p.D99D|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Silent_p.D282D|HOXD8_ENST00000548663.1_Silent_p.D179D	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	283					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TGGAGGAAGACAGAGCCGAAG	0.418000													5	20					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263109	248263109	+	Silent	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:248263109T>A	ENST00000366478.2	+	3	769	c.432T>A	c.(430-432)atT>atA	p.I144I	OR2L13_ENST00000358120.2_Silent_p.I144I	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGAAGATGATTGGAGGCTCTT	0.483000													9	157					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43373098	43373098	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:43373098A>T	ENST00000244296.2	-	4	935	c.798T>A	c.(796-798)agT>agA	p.S266R	PSG1_ENST00000595356.1_Missense_Mutation_p.S266R|PSG1_ENST00000595124.1_Missense_Mutation_p.S173R|PSG1_ENST00000436291.2_Missense_Mutation_p.S266R|PSG1_ENST00000403380.3_Missense_Mutation_p.S173R|PSG1_ENST00000312439.6_Missense_Mutation_p.S266R	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGTAGTTCTCACTCTTAGGTT	0.483000													34	139					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141337082	141337082	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:141337082G>T	ENST00000231484.3	-	1	1545	c.335C>A	c.(334-336)gCc>gAc	p.A112D		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	112	Cadherin 1.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCCTGTGGCAAGCACATC	0.572000													36	66					6.03168e-27	9.04752e-27	1	1	0
CDH17	1015	broad.mit.edu	37	8	95188783	95188783	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:95188783T>A	ENST00000027335.3	-	5	534	c.410A>T	c.(409-411)cAg>cTg	p.Q137L	CDH17_ENST00000441892.2_Missense_Mutation_p.Q137L|CDH17_ENST00000450165.2_Missense_Mutation_p.Q137L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	137	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCGAGAGTTCTGCCTTACTGA	0.502000													19	86					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3493646	3493646	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:3493646C>T	ENST00000174621.6	-	4	928	c.639G>A	c.(637-639)atG>atA	p.M213I	TRPV1_ENST00000576351.1_Missense_Mutation_p.M215I|TRPV1_ENST00000399759.3_Missense_Mutation_p.M215I|SHPK_ENST00000572705.1_Missense_Mutation_p.M215I|TRPV1_ENST00000310522.5_Missense_Mutation_p.M215I|TRPV1_ENST00000571088.1_Missense_Mutation_p.M215I|TRPV1_ENST00000425167.2_Missense_Mutation_p.M215I|TRPV1_ENST00000399756.4_Missense_Mutation_p.M215I			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	215					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TCACCAGGGCCATGTTGCGTC	0.622000													8	56					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36869000	36869000	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:36869000C>T	ENST00000325718.7	+	8	868	c.777C>T	c.(775-777)ccC>ccT	p.P259P	MLLT6_ENST00000378137.5_Silent_p.P259P	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	259					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CTGAGTCGCCCCCCAGCATCC	0.612000			T	MLL	AL								11	86					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29025069	29025069	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:29025069C>T	ENST00000524189.1	-	11	1017	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	KIF13B_ENST00000521515.1_Missense_Mutation_p.V327M	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	327					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACAGTAGCCACCATGGCGGTC	0.478000													9	71					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724833	140724833	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:140724833C>A	ENST00000253812.6	+	1	1233	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCTGGACCGCGAACAAA	0.448000													20	42					0.189662	0.194288	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248685322	248685322	+	Silent	SNP	T	T	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:248685322T>G	ENST00000343414.4	+	1	407	c.375T>G	c.(373-375)gcT>gcG	p.A125A		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTATGCTGCTGTCTGCCGGC	0.592000													5	60					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54011593	54011593	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:54011593C>G	ENST00000401642.3	-	5	1601	c.1468G>C	c.(1468-1470)Gac>Cac	p.D490H	SCFD2_ENST00000388940.4_Missense_Mutation_p.D490H	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	490					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCACACAGGTCTTTGTCTACC	0.458000													12	63					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7774372	7774372	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr10:7774372G>T	ENST00000358415.4	+	14	1885	c.1719G>T	c.(1717-1719)aaG>aaT	p.K573N	ITIH2_ENST00000379587.4_Missense_Mutation_p.K562N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	573					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGAAAGACAAGCATGCAGATC	0.488000													4	35					0.00909568	0.00968498	1	1	0
RARRES3	5920	broad.mit.edu	37	11	63312161	63312161	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:63312161G>A	ENST00000439013.2	+	3	240	c.187G>A	c.(187-189)Gag>Aag	p.E63K	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.E63K|RARRES3_ENST00000354445.2_Missense_Mutation_p.E63K			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	63				E -> G (in Ref. 1; AAC84000).	lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GGTGAAACGGGAGCGCCTGGA	0.587000													20	117					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46318686	46318686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:46318686C>A	ENST00000465950.1	-	2	3995	c.2786G>T	c.(2785-2787)cGc>cTc	p.R929L	SCAF11_ENST00000549162.1_Missense_Mutation_p.R1052L|SCAF11_ENST00000369367.3_Missense_Mutation_p.R1244L|SCAF11_ENST00000419565.2_Missense_Mutation_p.R1244L			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1244	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding	p.R1244H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AAATGGATTGCGTTGGATGTT	0.463000													6	46					3.59834e-05	4.445e-05	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46967179	46967179	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:46967179G>A	ENST00000264318.3	-	8	1924	c.942C>T	c.(940-942)tcC>tcT	p.S314S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	314					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGGTAGCATAGGACACTTTGG	0.438000													10	70					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463160	5463160	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:5463160C>T	ENST00000296564.7	+	13	3935	c.3713C>T	c.(3712-3714)tCa>tTa	p.S1238L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1238										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGGATTGAATCAGAGGAAGAT	0.378000													3	14					0	0	1	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50236719	50236719	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:50236719G>A	ENST00000333924.4	-	1	193	c.152C>T	c.(151-153)cCc>cTc	p.P51L		NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	51							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CAGCTCCGGGGGCAGGAGGCG	0.632000													6	114					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32640172	32640172	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:32640172C>G	ENST00000421745.2	+	10	1947	c.1813C>G	c.(1813-1815)Caa>Gaa	p.Q605E		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	605					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TATATCAGAACAAGGGTCAAC	0.388000													7	16					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7789868	7789868	+	Silent	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:7789868C>A	ENST00000338316.4	+	20	2672	c.2583C>A	c.(2581-2583)ccC>ccA	p.P861P	ADCY2_ENST00000537121.1_Silent_p.P681P	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	861					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.P861P(3)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACGTGCTTCCCGCGCACGTGG	0.577000													6	38					0.00116845	0.00130672	1	1	0
LINC00521	256369	broad.mit.edu	37	14	94469628	94469628	+	RNA	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr14:94469628G>A	ENST00000444118.1	+	0	1206					NR_024182.1																						AGGAGCAGTGGTGGCAGCTGA	0.542000													5	31					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74046514	74046514	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr17:74046514C>G	ENST00000307877.2	-	9	1233	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H	SRP68_ENST00000355113.5_Missense_Mutation_p.D257H|SRP68_ENST00000602720.1_Missense_Mutation_p.D19H|SRP68_ENST00000539137.1_Missense_Mutation_p.D320H|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	358					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CCTACCTGATCTGGCTTGAGC	0.587000													4	51					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74649216	74649216	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr18:74649216G>A	ENST00000253159.8	+	26	4891	c.4693G>A	c.(4693-4695)Gct>Act	p.A1565T	ZNF236_ENST00000320610.9_Missense_Mutation_p.A1567T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1565					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGGAGGTGACGCTAGTGTCAC	0.562000													7	37					0	0	1	0	0
RPL10A	4736	broad.mit.edu	37	6	35438399	35438399	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:35438399G>C	ENST00000322203.6	+	6	553	c.526G>C	c.(526-528)Gac>Cac	p.D176H	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	176					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						GAAGATGACAGACGATGAGCT	0.483000													10	35					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685323	248685323	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:248685323G>A	ENST00000343414.4	+	1	408	c.376G>A	c.(376-378)Gtc>Atc	p.V126I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATGCTGCTGTCTGCCGGCC	0.592000													5	60					0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143694459	143694459	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:143694459G>A	ENST00000356613.2	-	1	2374	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	392					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGCTGGGTCCGGTCACTGGCC	0.711000													3	11					0	0	1	0	0
HSD17B14	51171	broad.mit.edu	37	19	49318371	49318371	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:49318371G>C	ENST00000263278.4	-	6	663	c.397C>G	c.(397-399)Caa>Gaa	p.Q133E	HSD17B14_ENST00000599157.1_Missense_Mutation_p.Q109E	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	133					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		ACATTCCCTTGACTCTTCCGC	0.597000													9	33					0	0	1	0	0
LTBR	4055	broad.mit.edu	37	12	6499329	6499329	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:6499329C>T	ENST00000228918.4	+	9	1179	c.853C>T	c.(853-855)Cca>Tca	p.P285S	LTBR_ENST00000539925.1_Missense_Mutation_p.P266S|LTBR_ENST00000541102.1_Missense_Mutation_p.P142S	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	285					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GAAGGCCCATCCATACTTCCC	0.582000													49	132					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150266634	150266634	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:150266634C>T	ENST00000367351.3	+	2	348	c.275C>T	c.(274-276)cCa>cTa	p.P92L		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	92	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GCACAGAACCCAGTACTGAGA	0.493000													27	156					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697560	17697560	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:17697560C>G	ENST00000399080.2	-	1	2146	c.2123G>C	c.(2122-2124)tGt>tCt	p.C708S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	708										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATATTCTGACAAGTAATTTC	0.313000													4	27					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927420	55927420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:55927420G>T	ENST00000313447.1	-	1	373	c.374C>A	c.(373-375)gCc>gAc	p.A125D		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTTACAAATGGCCACATAGCG	0.428000													6	55					0.0215528	0.0226304	1	1	0
DYRK1B	9149	broad.mit.edu	37	19	40317964	40317964	+	Silent	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:40317964C>A	ENST00000593685.1	-	8	1524	c.1056G>T	c.(1054-1056)ggG>ggT	p.G352G	DYRK1B_ENST00000323039.5_Silent_p.G352G|DYRK1B_ENST00000348817.3_Silent_p.G352G|DYRK1B_ENST00000597639.1_Silent_p.G352G|DYRK1B_ENST00000430012.2_Silent_p.G352G			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	352	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TCCAGCCACCCCCAGGCAGCC	0.652000													13	32					2.68362e-12	3.90157e-12	1	1	0
ERGIC2	51290	broad.mit.edu	37	12	29502090	29502090	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:29502090T>A	ENST00000360150.4	-	10	724	c.649A>T	c.(649-651)Ata>Tta	p.I217L		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	217					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	AAATGATCTATTCTATGAGAA	0.274000													9	12					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275770	114275770	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:114275770C>T	ENST00000357077.4	+	38	6049	c.5996C>T	c.(5995-5997)tCa>tTa	p.S1999L	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1966L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1966					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCTTTCCAGTCAGGTCAGGAC	0.438000													14	81					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933236	150933236	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:150933236G>T	ENST00000271640.5	+	16	2888	c.2698G>T	c.(2698-2700)Gag>Tag	p.E900*	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.E900*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	900	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGACCCTGAAGAGTCCAATGA	0.527000													4	59					0.00024832	0.000294248	1	1	0
ITPR3	3710	broad.mit.edu	37	6	33639051	33639051	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:33639051C>T	ENST00000374316.5	+	22	3756	c.2696C>T	c.(2695-2697)cCg>cTg	p.P899L	ITPR3_ENST00000605930.1_Missense_Mutation_p.P899L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	899					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CAGGGGCCCCCGGCCATGCTG	0.642000													9	35					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065836	247065836	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:247065836C>A	ENST00000366508.1	-	8	1349	c.1213G>T	c.(1213-1215)Gtg>Ttg	p.V405L	AHCTF1_ENST00000391829.2_Missense_Mutation_p.V370L|AHCTF1_ENST00000326225.3_Missense_Mutation_p.V379L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	370	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCTTCATTCACGCCTTCCTCC	0.403000													6	80					3.59834e-05	4.445e-05	1	1	0
POTEE	445582	broad.mit.edu	37	2	131976295	131976295	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:131976295C>A	ENST00000356920.5	+	1	414	c.320C>A	c.(319-321)cCc>cAc	p.P107H	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P107H|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	107							ATP binding										CACTGCTTCCCCTGCTGCAGG	0.607000													12	110					0.00010058	0.000120696	1	1	0
SMG1	23049	broad.mit.edu	37	16	18866011	18866011	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:18866011C>G	ENST00000446231.2	-	30	4862	c.4450G>C	c.(4450-4452)Gat>Cat	p.D1484H	SMG1_ENST00000389467.3_Missense_Mutation_p.D1484H			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1484	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTTCAATATCAAGTTCGGGC	0.338000													6	42					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239988489	239988489	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:239988489C>T	ENST00000345617.3	-	24	3708	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	HDAC4_ENST00000543185.1_Missense_Mutation_p.E557K	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	973	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGGCCTCCCTCGAGGGCCAGG	0.632000													17	52					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109865285	109865285	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:109865285G>T	ENST00000310903.5	+	19	1901	c.1795G>T	c.(1795-1797)Gac>Tac	p.D599Y	MYO1H_ENST00000431443.2_Missense_Mutation_p.D609Y			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAAATTTGATGACTTCCTCAT	0.468000													13	123					1.05317e-09	1.50226e-09	1	1	0
KRT82	3888	broad.mit.edu	37	12	52788785	52788785	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:52788785C>T	ENST00000257974.2	-	9	1593	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	506	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGGGAGCTGCCCCCAGCTCCT	0.632000													8	64					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206592740	206592740	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:206592740G>C	ENST00000360409.3	+	7	1907	c.1116G>C	c.(1114-1116)tgG>tgC	p.W372C	NRP2_ENST00000357785.5_Missense_Mutation_p.W372C|NRP2_ENST00000540841.1_Missense_Mutation_p.W372C|NRP2_ENST00000272849.3_Missense_Mutation_p.W372C|NRP2_ENST00000357118.4_Missense_Mutation_p.W372C|NRP2_ENST00000540178.1_Missense_Mutation_p.W372C|NRP2_ENST00000417189.1_Missense_Mutation_p.W372C|NRP2_ENST00000355117.4_Missense_Mutation_p.W372C|NRP2_ENST00000412873.2_Missense_Mutation_p.W372C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	372	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAGAGGACTGGATGGTGTACC	0.502000													6	34					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822072	93822072	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:93822072G>C	ENST00000315765.9	+	12	2240	c.2232G>C	c.(2230-2232)tgG>tgC	p.W744C		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	744	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAGTAGAATGGGATTATGCCC	0.537000													6	74					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205238491	205238491	+	Silent	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:205238491G>T	ENST00000358024.3	+	3	1550	c.1161G>T	c.(1159-1161)gtG>gtT	p.V387V	TMCC2_ENST00000330675.7_Silent_p.V162V|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.V309V|TMCC2_ENST00000329800.7_Silent_p.V147V	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	387						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGAAGGACGTGGGCGCCAACG	0.701000													10	37					3.86212e-05	4.73987e-05	1	1	0
OR7D4	125958	broad.mit.edu	37	19	9325052	9325052	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:9325052C>G	ENST00000308682.2	-	1	490	c.462G>C	c.(460-462)tgG>tgC	p.W154C		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCAGGGAGAACCAGAAAATGA	0.527000													4	43					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420364	11420364	+	RNA	SNP	T	T	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr12:11420364T>A	ENST00000381842.3	-	0	730				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTTGCCTCCTTGTGAAGGTG	0.587000													19	322					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44051065	44051065	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:44051065C>T	ENST00000262887.5	-	11	1811	c.1264G>A	c.(1264-1266)Gga>Aga	p.G422R	XRCC1_ENST00000543982.1_Missense_Mutation_p.G391R			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	422					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	p.G422R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCTTCATCTCCGCTGCCACCG	0.612000								Other BER factors					6	74					0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	676121	676121	+	Splice_Site	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:676121G>T	ENST00000535977.1	+	6	787	c.565_splice	c.e6+1	p.V189_splice	RAB40C_ENST00000539661.1_Splice_Site_p.V189_splice|RAB40C_ENST00000538492.1_Splice_Site_p.V189_splice|RAB40C_ENST00000248139.3_Splice_Site_p.V189_splice	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	189	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GCCCAACCGAGGTGGGTGGGC	0.667000													10	58					3.86212e-05	4.73987e-05	1	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243579077	243579077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:243579077G>T	ENST00000366541.3	+	14	1808	c.1690G>T	c.(1690-1692)Gag>Tag	p.E564*	SDCCAG8_ENST00000343783.6_Nonsense_Mutation_p.E419*|SDCCAG8_ENST00000355875.4_Nonsense_Mutation_p.E521*	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	564	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CCAGCAAAGAGAGCAGGAGCT	0.498000													5	29					1.23904e-05	1.57167e-05	1	1	0
B3GNT2	10678	broad.mit.edu	37	2	62449724	62449724	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:62449724G>C	ENST00000301998.4	+	2	621	c.369G>C	c.(367-369)ttG>ttC	p.L123F	B3GNT2_ENST00000405767.1_Missense_Mutation_p.L123F	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	123						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)			TGCTGTATTTGAGATGCCGCA	0.453000													17	186					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21630880	21630880	+	Silent	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:21630880G>C	ENST00000328843.6	+	14	2383	c.2352G>C	c.(2350-2352)ctG>ctC	p.L784L	DNAH11_ENST00000409508.3_Silent_p.L784L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	784	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATACCCTCTGATTGAAGATG	0.493000									Kartagener syndrome				5	62					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84533001	84533001	+	RNA	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr9:84533001G>T	ENST00000527857.1	+	0	3023					NR_026851.1																						CTCACCTATTGGCAAAGAAGG	0.473000													7	20					0.000157383	0.000187078	1	1	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217427	26217427	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:26217427G>A	ENST00000303910.2	+	1	263	c.225G>A	c.(223-225)aaG>aaA	p.K75K		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	75					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K75N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GCGACAATAAGAAGACCCGCA	0.617000													10	70					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818160	214818160	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:214818160G>A	ENST00000366955.3	+	13	5415	c.5247G>A	c.(5245-5247)ttG>ttA	p.L1749L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1845					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTTCTGAATTGTCATTTTCTG	0.448000													5	34					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603683	111603683	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr3:111603683C>T	ENST00000431670.2	+	2	1170	c.759C>T	c.(757-759)agC>agT	p.S253S	PHLDB2_ENST00000412622.1_Silent_p.S253S|PHLDB2_ENST00000393925.3_Silent_p.S253S|PHLDB2_ENST00000481953.1_Silent_p.S253S|PHLDB2_ENST00000477695.1_Silent_p.S253S|PHLDB2_ENST00000393923.3_Silent_p.S280S|PHLDB2_ENST00000478922.1_Silent_p.S253S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	253						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGCCTACAGCCGATCACTTC	0.483000													8	53					0	0	1	0	0
RNF207	388591	broad.mit.edu	37	1	6279359	6279359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:6279359G>A	ENST00000377939.4	+	18	1924	c.1797G>A	c.(1795-1797)tgG>tgA	p.W599*	RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	599						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAAACAGCTGGGCTCCGAACG	0.517000													6	41					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	103053981	103053981	+	Silent	SNP	T	T	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr13:103053981T>C	ENST00000376131.4	-	1	143	c.48A>G	c.(46-48)ttA>ttG	p.L16L	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTTGCATAATAATAATTTGA	0.418000													9	25					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155030164	155030164	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:155030164G>T	ENST00000356955.2	+	13	1476	c.1375G>T	c.(1375-1377)Gca>Tca	p.A459S	ADAM15_ENST00000355956.2_Missense_Mutation_p.A459S|ADAM15_ENST00000531455.1_Missense_Mutation_p.A469S|ADAM15_ENST00000368413.1_Missense_Mutation_p.A165S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Missense_Mutation_p.A459S|ADAM15_ENST00000368410.2_Missense_Mutation_p.A165S|ADAM15_ENST00000271836.6_Missense_Mutation_p.A459S|ADAM15_ENST00000368412.3_Missense_Mutation_p.A459S|ADAM15_ENST00000360674.4_Missense_Mutation_p.A459S|ADAM15_ENST00000359280.4_Missense_Mutation_p.A459S|ADAM15_ENST00000447332.3_Missense_Mutation_p.A443S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	459	Disintegrin.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGGCCAGGTGCACAGTGTGC	0.632000													10	80					0.000673444	0.0007714	1	1	0
EIF2AK1	27102	broad.mit.edu	37	7	6089620	6089620	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:6089620C>A	ENST00000199389.6	-	3	480	c.334G>T	c.(334-336)Gag>Tag	p.E112*	EIF2AK1_ENST00000536084.1_Intron	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	112					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GAGCTAAACTCGTCACTACAA	0.343000													9	45					0.000274275	0.000321975	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114111076	114111076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:114111076C>T	ENST00000297405.5	-	5	1070	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G276R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G236R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G276R|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	276	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGTGTCCCCAGGCTCTGCT	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	31					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300983	110300983	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr6:110300983C>A	ENST00000414000.2	+	3	952	c.713C>A	c.(712-714)gCg>gAg	p.A238E	GPR6_ENST00000275169.3_Missense_Mutation_p.A223E			P46095	GPR6_HUMAN	G protein-coupled receptor 6	223						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CGCCCGCTGGCGCGCAGCCAC	0.706000													5	14					0.000602214	0.000696138	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100568676	100568676	+	Splice_Site	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:100568676A>G	ENST00000395996.1	+	32	4998		c.e32-1		VPS13B_ENST00000358544.2_Splice_Site|VPS13B_ENST00000357162.2_Splice_Site			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGCCTTTACAGGAGAGCCTT	0.333000													5	20					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137664210	137664210	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:137664210C>T	ENST00000323760.6	-	4	576	c.298G>A	c.(298-300)Gat>Aat	p.D100N	CDC25C_ENST00000514555.1_Missense_Mutation_p.D100N|CDC25C_ENST00000513970.1_Missense_Mutation_p.D100N|CDC25C_ENST00000415130.2_Missense_Mutation_p.G68E|CDC25C_ENST00000357274.3_Missense_Mutation_p.G68E|CDC25C_ENST00000356505.3_Missense_Mutation_p.D100N|CDC25C_ENST00000348983.3_Missense_Mutation_p.G68E	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	100					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTGAAGAATCCAGGTGACCT	0.383000													8	62					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544282	53544282	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:53544282A>G	ENST00000371500.3	+	10	1528	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	PODN_ENST00000395871.2_Missense_Mutation_p.Y273C|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.Y415C	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	367					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGCACCTGTACAACAACGCG	0.642000													6	95					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921536	24921536	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr15:24921536C>A	ENST00000329468.2	+	1	996	c.522C>A	c.(520-522)gaC>gaA	p.D174E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.D174D(2)									GGGAGGATGACGAGAAAAGGA	0.622000													5	39					1.23904e-05	1.57167e-05	1	1	0
NLRC5	84166	broad.mit.edu	37	16	57104460	57104460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:57104460C>T	ENST00000262510.6	+	38	4822	c.4597C>T	c.(4597-4599)Caa>Taa	p.Q1533*	NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q1504*|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q1504*	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1533					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)				GTCTAACAATCAATTTGATGA	0.567000													7	100					0	0	1	0	0
PIGP	51227	broad.mit.edu	37	21	38437993	38437993	+	Silent	SNP	T	T	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr21:38437993T>C	ENST00000464265.1	-	4	589	c.366A>G	c.(364-366)caA>caG	p.Q122Q	PIGP_ENST00000360525.3_Silent_p.Q98Q|PIGP_ENST00000399102.1_Silent_p.Q98Q|PIGP_ENST00000399103.1_Silent_p.Q98Q|PIGP_ENST00000399098.1_Silent_p.Q72Q|PIGP_ENST00000329667.3_5'UTR	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	122					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				TCTTCTGCTGTTGATTTTTTG	0.373000													4	32					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14412247	14412247	+	Silent	SNP	G	G	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr8:14412247G>A	ENST00000382080.1	-	2	943	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SGCZ_ENST00000421524.2_Silent_p.F63F	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	63					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TTACCACAGTGAAATTCATAA	0.333000													4	39					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													4	52					0.217242	0.221341	1	1	0
CHP1	11261	broad.mit.edu	37	15	41571025	41571025	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr15:41571025A>T	ENST00000334660.5	+	6	712	c.472A>T	c.(472-474)Agg>Tgg	p.R158W	CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Intron	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	158	EF-hand 4.				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										CATCGCAGACAGGACCATTCA	0.468000													7	31					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44073349	44073349	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:44073349C>A	ENST00000272286.2	+	3	311	c.221C>A	c.(220-222)cCc>cAc	p.P74H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	74	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTCAAGATGCCCTGGACATCT	0.532000													4	47					0.00909568	0.00968498	1	1	0
PADI2	11240	broad.mit.edu	37	1	17395667	17395667	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr1:17395667G>T	ENST00000375486.4	-	16	1933	c.1870C>A	c.(1870-1872)Ccc>Acc	p.P624T	PADI2_ENST00000444885.2_Missense_Mutation_p.P508T|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	624					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGGCCCAGGGGCTCCAGGAGG	0.597000													9	76					2.74318e-10	3.92773e-10	1	1	0
AMER3	205147	broad.mit.edu	37	2	131520531	131520531	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:131520531G>T	ENST00000423981.1	+	2	996	c.886G>T	c.(886-888)Gcc>Tcc	p.A296S	AMER3_ENST00000321420.4_Missense_Mutation_p.A296S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGAGCAGCTGGCCTCGCCCGC	0.657000													9	48					4.68919e-08	6.37595e-08	1	1	0
LGI4	163175	broad.mit.edu	37	19	35617207	35617207	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:35617207G>T	ENST00000392225.3	-	7	1862	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000310123.3_Missense_Mutation_p.F422L			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	184						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TGAGGCACAGGAACACGTCCC	0.627000													5	8					1.23904e-05	1.57167e-05	1	1	0
ZNF80	7634	broad.mit.edu	37	3	113955600	113955600	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr3:113955600C>G	ENST00000482457.2	-	1	825	c.322G>C	c.(322-324)Gtg>Ctg	p.V108L		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	108						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CCGCACTCCACGCACTTACAG	0.547000													4	29					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4862062	4862062	+	Silent	SNP	G	G	C			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:4862062G>C	ENST00000399583.3	-	6	1765	c.1578C>G	c.(1576-1578)ctC>ctG	p.L526L	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000538469.1_Silent_p.L286L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	526	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCTGCATGTAGAGTGGGCATT	0.582000													4	31					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981973	7981973	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr11:7981973C>A	ENST00000328600.2	-	2	1347	c.1186G>T	c.(1186-1188)Gat>Tat	p.D396Y		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	396	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATCATCATCGGGCGGCAGA	0.557000													6	56					3.59834e-05	4.445e-05	1	1	0
FZD1	8321	broad.mit.edu	37	7	90895711	90895711	+	Silent	SNP	C	C	T			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:90895711C>T	ENST00000287934.2	+	1	1929	c.1516C>T	c.(1516-1518)Ctg>Ttg	p.L506L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	506					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CACGTCCTTTCTGCTGGCCGG	0.602000													9	174					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25973090	25973094	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr2:25973090_25973094delTTCTT	ENST00000435504.4	-	12	1624_1628	c.1331_1335delAAGAA	c.(1330-1335)afs	p.KE444fs	ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCACACTCTTCTTTTCTGCCTGG	0.473													10	219	---	---	---	---					
TLL1	7092	broad.mit.edu	37	4	166964496	166964496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr4:166964496delC	ENST00000061240.2	+	12	2096	c.1449delC	c.(1447-1449)cgfs	p.R483fs	TLL1_ENST00000507499.1_Frame_Shift_Del_p.R483fs	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	483	CUB 2.				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)		ATGACTATCGCCCGATGAAAG	0.418													14	92	---	---	---	---					
NIPAL4	348938	broad.mit.edu	37	5	156899840	156899840	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr5:156899840delC	ENST00000311946.7	+	6	1389	c.1273delC	c.(1273-1275)ccfs	p.P426fs	NIPAL4_ENST00000435489.2_Frame_Shift_Del_p.P407fs|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	426						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CAAAAACCCACCCCCTTCTCC	0.527													8	33	---	---	---	---					
AC003986.5	0	broad.mit.edu	37	7	19184356	19184356	+	RNA	DEL	C	C	-			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr7:19184356delC	ENST00000452700.1	+	0	159																											ACAATCTCGACCCCGACCTCC	0.617													8	3	---	---	---	---					
CTRL	1506	broad.mit.edu	37	16	67963995	67963996	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:67963995_67963996insA	ENST00000574481.1	-	7	1197_1198	c.636_637insT	c.(634-639)ggactcfs	p.L213fs		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	213	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CCTCCGGAGTCACCCTGAGAGG	0.589													9	106	---	---	---	---					
TUBB3	10381	broad.mit.edu	37	16	90001702	90001718	+	Frame_Shift_Del	DEL	CCGGGCCCTGACCGTGC	CCGGGCCCTGACCGTGC	-			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr16:90001702_90001718delCCGGGCCCTGACCGTGC	ENST00000304984.5	+	3	2922_2938	c.627_643delCCGGGCCCTGACCGTGC	c.(625-645)taccfs	p.YRALTVP209fs	TUBB3_ENST00000554444.1_Frame_Shift_Del_p.YRALTVP209fs|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Frame_Shift_Del_p.YRALTVP281fs|TUBB3_ENST00000556922.1_Frame_Shift_Del_p.YRALTVP628fs			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	281					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCAC	0.696													7	92	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9024884	9024884	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A493-01A-11D-A24D-08	TCGA-55-A493-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45aab7cc-5e3c-4654-be1b-f37470879fd9	dd15313f-59e4-4d25-953c-2c2dd1b1937e	g.chr19:9024884delG	ENST00000397910.4	-	16	37181	c.36978delC	c.(36976-36978)acfs	p.T12326fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12328	SEA 2.				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						CAATGTCATTGGTCAGTTTGC	0.557													12	105	---	---	---	---