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
SEMA4F	10505	broad.mit.edu	37	2	74889922	74889922	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr2:74889922C>T	ENST00000357877.2	+	5	669	c.520C>T	c.(520-522)Cca>Tca	p.P174S	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	174	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCCTTTTGAGCCAGCTCAGCG	0.517000													4	112					0	0	0.150653	0	0
ZNF296	162979	broad.mit.edu	37	19	45574925	45574925	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:45574925G>A	ENST00000303809.2	-	3	1576	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	454					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CTCGCAGGCCGAAGGGCACAT	0.692000													26	43					0	0	0.681144	0	0
GLI4	2738	broad.mit.edu	37	8	144358503	144358503	+	Silent	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr8:144358503C>T	ENST00000340042.1	+	4	745	c.660C>T	c.(658-660)ttC>ttT	p.F220F	ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000523522.1_Silent_p.F220F|GLI4_ENST00000523812.1_3'UTR	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	220						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCAAGCGCTTCCGCGGCTGGT	0.657000													8	44					0	0	0.278610	0	0
MGA	23269	broad.mit.edu	37	15	42058491	42058491	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr15:42058491G>C	ENST00000219905.7	+	24	8392	c.8211G>C	c.(8209-8211)caG>caC	p.Q2737H	MGA_ENST00000545763.1_Missense_Mutation_p.Q2528H|MGA_ENST00000570161.1_Missense_Mutation_p.Q2737H|MGA_ENST00000389936.4_Missense_Mutation_p.Q2698H|MGA_ENST00000566586.1_Missense_Mutation_p.Q2528H	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2698						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCAATATGCAGAAAGCACAAG	0.413000													9	9					0	0	0.307466	0	0
PYCR2	29920	broad.mit.edu	37	1	226109569	226109569	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:226109569C>T	ENST00000343818.6	-	4	677	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	RP4-559A3.7_ENST00000432920.2_Intron|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	177					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	TAGGCAGGCCCGCTGCCACTG	0.647000													6	14					0	0	0.217242	0	0
POU4F2	5458	broad.mit.edu	37	4	147561043	147561043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr4:147561043G>T	ENST00000281321.3	+	2	561	c.313G>T	c.(313-315)Gag>Tag	p.E105*		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	105					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGGGCTGGATGAGAGTCTGCT	0.607000													22	32					5.35356e-11	5.93128e-11	0.639603	1	0
KCNRG	283518	broad.mit.edu	37	13	50594389	50594389	+	Silent	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr13:50594389C>T	ENST00000312942.1	+	2	858	c.618C>T	c.(616-618)aaC>aaT	p.N206N	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	206						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		AATTGGCCAACGGAACAAATG	0.353000													10	24					0	0	0.361761	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328138	23328138	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:23328138G>T	ENST00000597761.2	+	4	491	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TTTCCAAGAAGTCATACTGAG	0.303000													6	8					3.59834e-05	3.87513e-05	0.217242	1	0
HIRA	7290	broad.mit.edu	37	22	19363188	19363188	+	Missense_Mutation	SNP	C	C	A	rs116694036	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr22:19363188C>A	ENST00000263208.5	-	15	1997	c.1741G>T	c.(1741-1743)Gcc>Tcc	p.A581S	HIRA_ENST00000340170.4_Missense_Mutation_p.A581S|HIRA_ENST00000541063.1_Missense_Mutation_p.A537S|HIRA_ENST00000546308.1_Missense_Mutation_p.A537S	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	581	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTGGTCAGGGCAGGAGCACCT	0.577000													15	29					7.05477e-17	7.87271e-17	0.520397	1	0
TEC	7006	broad.mit.edu	37	4	48140931	48140931	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr4:48140931G>A	ENST00000381501.3	-	16	1801	c.1644C>T	c.(1642-1644)gtC>gtT	p.V548V		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	548	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CAAATGACCAGACATCTGATT	0.438000													17	25					0	0	0.557998	0	0
KLK11	11012	broad.mit.edu	37	19	51525914	51525914	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:51525914G>C	ENST00000594768.1	-	6	921	c.736C>G	c.(736-738)Caa>Gaa	p.Q246E	KLK11_ENST00000600362.1_Missense_Mutation_p.Q73E|KLK11_ENST00000453757.3_Missense_Mutation_p.Q214E|KLK11_ENST00000391804.3_Missense_Mutation_p.Q239E|KLK11_ENST00000319720.7_Missense_Mutation_p.Q214E	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	246	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		ATAATGCCTTGAAGAGACTGG	0.562000													18	58					0	0	0.557998	0	0
PDE1C	5137	broad.mit.edu	37	7	31793138	31793138	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr7:31793138G>A	ENST00000396193.1	-	19	2763	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C	PDE1C_ENST00000396191.1_Missense_Mutation_p.R664C|PDE1C_ENST00000321453.7_Missense_Mutation_p.R664C	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	664					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TAAGCAGGGCGTTTAAAATGA	0.473000													54	62					0	0	0.870114	0	0
COL11A1	1301	broad.mit.edu	37	1	103471860	103471860	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:103471860G>A	ENST00000358392.2	-	16	2048	c.1731C>T	c.(1729-1731)ggC>ggT	p.G577G	COL11A1_ENST00000353414.4_Silent_p.G526G|COL11A1_ENST00000370096.3_Silent_p.G565G|COL11A1_ENST00000512756.1_Silent_p.G449G|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	565	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACCCTGGACGCCTCGAGGGC	0.388000													11	28					0	0	0.435327	0	0
FANCM	57697	broad.mit.edu	37	14	45605472	45605472	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr14:45605472G>C	ENST00000267430.5	+	1	323	c.238G>C	c.(238-240)Ggc>Cgc	p.G80R	FANCM_ENST00000542564.2_Missense_Mutation_p.G80R|FANCM_ENST00000556036.1_Missense_Mutation_p.G80R	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	80					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CACCTCCGCGGGCGCCCTGTG	0.597000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	58					0	0	0.387290	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236374	33236374	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:33236374C>T	ENST00000401073.2	+	6	1664	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.Q484*|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Nonsense_Mutation_p.Q473*	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	473	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCAGCAGCCCCAGCTGCCTCG	0.682000													6	8					0	0	0.217242	0	0
IL4I1	259307	broad.mit.edu	37	19	50399170	50399170	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:50399170C>G	ENST00000595948.1	-	5	840	c.220G>C	c.(220-222)Ggg>Cgg	p.G74R	IL4I1_ENST00000391826.2_Missense_Mutation_p.G52R|IL4I1_ENST00000341114.3_Missense_Mutation_p.G74R	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	52						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CGATTGAGCCCCCAGGTCACC	0.622000													40	98					0	0	0.827153	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:145293478C>T	ENST00000342960.5	+	1	108	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	25										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGAGACATTGCGCCCCCAGCT	0.502000													6	681					0	0	0.217242	0	0
ADCY9	115	broad.mit.edu	37	16	4016420	4016420	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr16:4016420C>T	ENST00000294016.3	-	11	3956	c.3418G>A	c.(3418-3420)Gag>Aag	p.E1140K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1140	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.E1140K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGCGAACTCGAACAGGATC	0.612000													19	48					0	0	0.592651	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													4	32					0	0	0.307466	0	0
SNHG14	104472715	broad.mit.edu	37	15	25430602	25430602	+	RNA	SNP	G	G	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr15:25430602G>T	ENST00000424208.1	+	0	463					NR_003305.1																						GGTGAGCACAGAGGAAGAATT	0.587000													13	25					0.00136819	0.00146321	0.411799	1	0
SULF2	55959	broad.mit.edu	37	20	46290558	46290558	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr20:46290558C>T	ENST00000359930.4	-	18	3304	c.2453G>A	c.(2452-2454)gGt>gAt	p.G818D	SULF2_ENST00000467815.1_Missense_Mutation_p.G818D|SULF2_ENST00000361612.4_Missense_Mutation_p.G818D|SULF2_ENST00000484875.1_Missense_Mutation_p.G818D	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	818					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTGCTTGTAACCCTTGCAGCT	0.547000													31	51					0	0	0.717897	0	0
CSMD1	64478	broad.mit.edu	37	8	2832017	2832017	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr8:2832017C>T	ENST00000602557.1	-	57	9254	c.8699G>A	c.(8698-8700)tGc>tAc	p.C2900Y	CSMD1_ENST00000602723.1_Missense_Mutation_p.C2842Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.C2899Y|CSMD1_ENST00000520002.1_Missense_Mutation_p.C2900Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.C2841Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.C2842Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2900	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCTTCCTGGCACACTCTCGT	0.547000													6	19					0	0	0.217242	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2																						AATTTGTCAACATTCGTGACA	0.418000													5	36					0	0	0.335167	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	16					0	0	0.387290	0	0
RYR1	6261	broad.mit.edu	37	19	38990294	38990294	+	Silent	SNP	C	C	T	rs149295336		TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:38990294C>T	ENST00000355481.4	+	44	7178	c.7047C>T	c.(7045-7047)aaC>aaT	p.N2349N	RYR1_ENST00000359596.3_Silent_p.N2349N|RYR1_ENST00000360985.3_Silent_p.N2349N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2349	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGAGGAGAACGCCAATGTGG	0.667000													9	18					0	0	0.361761	0	0
RPS3A	6189	broad.mit.edu	37	4	152024203	152024203	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr4:152024203A>C	ENST00000322686.6	+	5	520	c.496A>C	c.(496-498)Aat>Cat	p.N166H	RPS3A_ENST00000514682.1_Missense_Mutation_p.N142H|RPS3A_ENST00000512690.1_Missense_Mutation_p.N179H|RPS3A_ENST00000506126.1_Missense_Mutation_p.N142H|RPS3A_ENST00000509736.1_Missense_Mutation_p.N60H|RPS3A_ENST00000274065.4_Missense_Mutation_p.N179H			P61247	RS3A_HUMAN	ribosomal protein S3A	179					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GGTGCAGACAAATGACTTGAA	0.433000													5	13					0	0	0.217242	0	0
DISP1	84976	broad.mit.edu	37	1	223179094	223179094	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:223179094C>T	ENST00000284476.6	+	8	4519	c.4355C>T	c.(4354-4356)tCa>tTa	p.S1452L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1452					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGTGTGAACTCAGAACATTTC	0.448000													14	46					0	0	0.435327	0	0
ID2	3398	broad.mit.edu	37	2	8822989	8822989	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr2:8822989C>G	ENST00000234091.4	+	4	1225	c.365C>G	c.(364-366)tCt>tGt	p.S122C	ID2_ENST00000331129.3_Missense_Mutation_p.S122C|ID2_ENST00000396290.1_Missense_Mutation_p.S122C			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	122					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAATTCCCTTCTGAGTTAATG	0.413000													30	60					0	0	0.750413	0	0
ZNFX1	57169	broad.mit.edu	37	20	47888079	47888079	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr20:47888079G>A	ENST00000396105.1	-	3	516	c.270C>T	c.(268-270)gaC>gaT	p.D90D	ZNFX1_ENST00000371754.4_Silent_p.D90D|ZNFX1_ENST00000371752.1_Silent_p.D90D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	90							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCTAGCTTCGTCGCTGGCAT	0.542000													7	214					0	0	0.248553	0	0
AQR	9716	broad.mit.edu	37	15	35207303	35207303	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr15:35207303G>A	ENST00000156471.5	-	16	1645	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	474						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GATTCTAAGCGGAAGAGGTTA	0.383000													21	33					0	0	0.592651	0	0
SEPT4	5414	broad.mit.edu	37	17	56598442	56598442	+	Silent	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr17:56598442C>G	ENST00000457347.2	-	11	1383	c.1239G>C	c.(1237-1239)gtG>gtC	p.V413V	SEPT4_ENST00000317268.3_Silent_p.V398V|SEPT4_ENST00000317256.6_Silent_p.V379V|SEPT4_ENST00000583114.1_Silent_p.V251V|SEPT4_ENST00000579371.1_Silent_p.V299V|SEPT4_ENST00000580844.1_Silent_p.V299V|SEPT4_ENST00000393086.1_Silent_p.V379V|SEPT4_ENST00000412945.3_Silent_p.V390V|SEPT4_ENST00000426861.1_3'UTR|RP11-112H10.4_ENST00000580589.1_RNA	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	398					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCCCGTGTCACATCCTTCA	0.547000											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	66					0	0	0.729181	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79941434	79941434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr17:79941434C>T	ENST00000306729.7	+	3	260	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	ASPSCR1_ENST00000306739.4_Nonsense_Mutation_p.Q55*|ASPSCR1_ENST00000581647.1_Nonsense_Mutation_p.Q55*|ASPSCR1_ENST00000580534.1_5'UTR	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	55							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTGCAGGTTTCAGAGGAGCGT	0.647000			T	TFE3	alveolar soft part sarcoma								5	5					0	0	0.217242	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													7	151					0	0	0.307466	0	0
ZZZ3	26009	broad.mit.edu	37	1	78097992	78097992	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:78097992C>T	ENST00000370801.3	-	5	1523	c.1048G>A	c.(1048-1050)Gga>Aga	p.G350R	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCAGGTTCTCCGGAGGCTGGC	0.453000													29	59					0	0	0.706142	0	0
LRP2	4036	broad.mit.edu	37	2	170060776	170060776	+	Missense_Mutation	SNP	C	C	T	rs149675661	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr2:170060776C>T	ENST00000263816.3	-	42	8006	c.7721G>A	c.(7720-7722)aGg>aAg	p.R2574K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2574					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCGTTCAATCCTCTGCCTAAA	0.428000													59	109					0	0	0.870114	0	0
UTP20	27340	broad.mit.edu	37	12	101686952	101686952	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr12:101686952G>C	ENST00000261637.4	+	11	1354	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	394					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACAGATATTTGAGAGCAGATT	0.388000													31	18					0	0	0.760397	0	0
SPHK2	56848	broad.mit.edu	37	19	49132555	49132555	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:49132555C>G	ENST00000443164.1	+	5	2381	c.1676C>G	c.(1675-1677)tCt>tGt	p.S559C	SPHK2_ENST00000245222.4_Missense_Mutation_p.S497C|SPHK2_ENST00000599029.1_Missense_Mutation_p.S461C|SPHK2_ENST00000340932.3_Missense_Mutation_p.S459C|SPHK2_ENST00000600537.1_Missense_Mutation_p.S438C|SPHK2_ENST00000598088.1_Missense_Mutation_p.S497C|SPHK2_ENST00000599748.1_Missense_Mutation_p.S461C			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	497					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCCCATCCTCTGGGCTCCCA	0.706000													40	68					0	0	0.819951	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36557423	36557423	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:36557423G>A	ENST00000373178.4	+	3	543	c.513G>A	c.(511-513)caG>caA	p.Q171Q		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	171						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				AGGATGTGCAGAAGGTATTCA	0.612000													15	38					0	0	0.479597	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46020934	46020934	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr21:46020934C>G	ENST00000380102.2	+	1	438	c.413C>G	c.(412-414)tCt>tGt	p.S138C	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	138	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AGTGGGGATTCTTCATGCTGC	0.622000													53	125					0	0	0.870114	0	0
PNP	4860	broad.mit.edu	37	14	20943054	20943054	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr14:20943054C>G	ENST00000361505.5	+	4	554	c.408C>G	c.(406-408)atC>atG	p.I136M	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	136					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	GTGACCATATCAACCTACCTG	0.483000													25	27					0	0	0.654019	0	0
TPRX1	284355	broad.mit.edu	37	19	48306165	48306165	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:48306165C>T	ENST00000535759.1	-	4	393	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	TPRX1_ENST00000322175.3_Missense_Mutation_p.G35R|TPRX1_ENST00000543508.1_Missense_Mutation_p.G35R			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	35	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CCTCTCTGCCCAGGGACGCGC	0.716000													5	3					0	0	0.184627	0	0
GABRA4	2557	broad.mit.edu	37	4	46979077	46979077	+	Splice_Site	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr4:46979077C>T	ENST00000264318.3	-	5	1560		c.e5+1			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						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)	TTATAACTTACAACTCCCGAA	0.343000													3	12					0	0	0.115264	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704393	41704393	+	Silent	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:41704393C>T	ENST00000310054.4	+	4	736	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	174					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTCCCTGCTGCTGGCCCAGGC	0.642000													34	80					0	0	0.760397	0	0
FGFR3	2261	broad.mit.edu	37	4	1805540	1805540	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr4:1805540C>T	ENST00000440486.2	+	8	1308	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	FGFR3_ENST00000481110.2_Missense_Mutation_p.S351F|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.S351F|FGFR3_ENST00000352904.1_Intron	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	351	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCTCATCACTCTGCGTGGCTG	0.612000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				43	13					0	0	0.870114	0	0
PARP4	143	broad.mit.edu	37	13	25020834	25020834	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr13:25020834C>G	ENST00000381989.3	-	27	3456	c.3351G>C	c.(3349-3351)caG>caC	p.Q1117H		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1117					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CAGTTGTCTTCTGAAGCTCAG	0.348000													17	35					0	0	0.520397	0	0
DPP9	91039	broad.mit.edu	37	19	4679872	4679872	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:4679872C>A	ENST00000262960.9	-	21	2838	c.2561G>T	c.(2560-2562)cGa>cTa	p.R854L	DPP9_ENST00000594671.1_Missense_Mutation_p.R825L|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000598800.1_Missense_Mutation_p.R825L	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	825					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TTTCCCTGCTCGGATCAGTTG	0.612000													7	11					0.248553	0.260388	0.248553	1	0
C11orf30	56946	broad.mit.edu	37	11	76169287	76169287	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr11:76169287G>A	ENST00000529032.1	+	4	306	c.306G>A	c.(304-306)ctG>ctA	p.L102L	C11orf30_ENST00000533248.1_Silent_p.L116L|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000525038.1_Silent_p.L116L|C11orf30_ENST00000524767.1_Silent_p.L116L|C11orf30_ENST00000343878.3_Silent_p.L102L|C11orf30_ENST00000524490.1_Silent_p.L102L|C11orf30_ENST00000334736.3_Silent_p.L102L|C11orf30_ENST00000525919.1_Silent_p.L102L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	102	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TGGTACCACTGATGCCCCGGC	0.463000													23	49					0	0	0.667858	0	0
ACACA	31	broad.mit.edu	37	17	35641867	35641867	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr17:35641867T>C	ENST00000353139.5	-	4	824	c.343A>G	c.(343-345)Agc>Ggc	p.S115G	ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.S20G|ACACA_ENST00000394406.2_Missense_Mutation_p.S78G|ACACA_ENST00000335166.5_5'UTR	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	78					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAGACATGCTGGACCTATAA	0.423000													43	63					0	0	0.870114	0	0
ATP2A3	489	broad.mit.edu	37	17	3844279	3844279	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr17:3844279C>T	ENST00000309890.7	-	14	2236	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	ATP2A3_ENST00000397043.3_Missense_Mutation_p.E696K|ATP2A3_ENST00000352011.3_Missense_Mutation_p.E696K|ATP2A3_ENST00000397035.3_Missense_Mutation_p.E696K|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.E696K|ATP2A3_ENST00000397041.3_Missense_Mutation_p.E696K	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	696					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCAGTGATCTCGTTAAAGGAC	0.662000													39	50					0	0	0.827153	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991327	52991327	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:52991327G>C	ENST00000371544.3	-	2	888	c.626C>G	c.(625-627)tCa>tGa	p.S209*	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Nonsense_Mutation_p.S209*|ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.S209*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	209					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGATCGTGGTGAGTTTTGCAG	0.388000													72	95					0	0	0.870114	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44512534	44512534	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr20:44512534G>A	ENST00000372523.1	+	2	1398	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.E435K	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	435							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CAAGTGGAGTGAGACCCTGGA	0.622000													26	41					0	0	0.667858	0	0
ZNF236	7776	broad.mit.edu	37	18	74583656	74583656	+	Splice_Site	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr18:74583656G>C	ENST00000253159.8	+	5	734		c.e5-1		ZNF236_ENST00000320610.9_Splice_Site|ZNF236_ENST00000583095.1_Intron	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						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)		TATTACACTAGGGTATCAAGT	0.403000													21	21					0	0	0.608945	0	0
CNTD2	79935	broad.mit.edu	37	19	40732342	40732342	+	Silent	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:40732342C>G	ENST00000430325.2	-	1	255	c.207G>C	c.(205-207)ctG>ctC	p.L69L	CNTD2_ENST00000433940.1_Silent_p.L69L	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	69					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CCAGCGCGCTCAGCGCCTCCT	0.731000													5	6					0	0	0.217242	0	0
ARNTL	406	broad.mit.edu	37	11	13399940	13399940	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr11:13399940G>A	ENST00000401424.1	+	17	1868	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	ARNTL_ENST00000361003.4_Missense_Mutation_p.G373R|ARNTL_ENST00000403290.1_Missense_Mutation_p.G491R|ARNTL_ENST00000396441.3_Missense_Mutation_p.G490R|ARNTL_ENST00000389707.4_Missense_Mutation_p.G490R|ARNTL_ENST00000403510.3_Missense_Mutation_p.G447R|ARNTL_ENST00000389708.3_Silent_p.L522L|ARNTL_ENST00000403482.3_Missense_Mutation_p.G489R	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	491					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AACCCGGGCTGGGGCAGGAAA	0.512000													4	6					0	0	0.217242	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719490	140719490	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr5:140719490G>C	ENST00000394576.2	+	1	952	c.952G>C	c.(952-954)Gat>Cat	p.D318H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAAATTGATATTGAAGC	0.428000													62	122					0	0	0.870114	0	0
ELK1	2002	broad.mit.edu	37	X	47500813	47500813	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chrX:47500813A>G	ENST00000247161.3	-	2	127	c.28T>C	c.(28-30)Ttt>Ctt	p.F10L	ELK1_ENST00000343894.4_Missense_Mutation_p.F10L|ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000376983.3_Missense_Mutation_p.F10L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	10					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGCAGCAGAAACTGCCACAGC	0.577000													11	4					0	0	0.361761	0	0
CLDN7	1366	broad.mit.edu	37	17	7165243	7165243	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr17:7165243G>A	ENST00000538261.3	-	1	1021	c.120C>T	c.(118-120)atC>atT	p.I40I	CLDN7_ENST00000397317.4_Silent_p.I40I|CLDN7_ENST00000571881.2_Silent_p.I40I|CLDN7_ENST00000360325.7_Silent_p.I40I|RP1-4G17.5_ENST00000577138.1_Silent_p.I40I	NM_001185023.1	NP_001171952.1	O95471	CLD7_HUMAN	claudin 7	40					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						GGGCCGTGATGATGTTGTCAC	0.622000													5	12					0	0	0.184627	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290841	141290841	+	Silent	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chrX:141290841C>T	ENST00000247452.3	-	3	1280	c.933G>A	c.(931-933)aaG>aaA	p.K311K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	311	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTACTTTCTTCTTGATGCTTT	0.478000										HNSCC(46;0.14)			38	8					0	0	0.788014	0	0
SRBD1	55133	broad.mit.edu	37	2	45616464	45616464	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr2:45616464G>A	ENST00000263736.4	-	21	3035	c.2973C>T	c.(2971-2973)ctC>ctT	p.L991L	SRBD1_ENST00000535761.1_Silent_p.L510L|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	991	S1 motif.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACACCCGAATGAGGTCCAGAG	0.448000													15	30					0	0	0.479597	0	0
FLNB	2317	broad.mit.edu	37	3	58139287	58139287	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr3:58139287G>T	ENST00000295956.4	+	39	6718	c.6553G>T	c.(6553-6555)Gtg>Ttg	p.V2185L	FLNB_ENST00000429972.2_Missense_Mutation_p.V2174L|FLNB_ENST00000490882.1_Missense_Mutation_p.V2216L|FLNB_ENST00000493452.1_Missense_Mutation_p.V1992L|FLNB_ENST00000358537.3_Missense_Mutation_p.V2161L|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.V2144L|FLNB_ENST00000419752.2_Missense_Mutation_p.V2005L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2185	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAGTTCACCGTGGGGCCACT	0.667000													6	24					0.0293803	0.0309902	0.248553	1	0
NT5E	4907	broad.mit.edu	37	6	86159926	86159926	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr6:86159926G>A	ENST00000257770.3	+	1	118	c.69G>A	c.(67-69)gcG>gcA	p.A23A	NT5E_ENST00000369646.3_Silent_p.A23A|NT5E_ENST00000369651.3_Silent_p.A23A	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	23					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TGTGGCCTGCGGCTGGCGCCT	0.692000													10	10					0	0	0.335167	0	0
MYOM2	9172	broad.mit.edu	37	8	2071163	2071163	+	Silent	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr8:2071163C>G	ENST00000262113.4	+	29	3633	c.3492C>G	c.(3490-3492)ctC>ctG	p.L1164L	MYOM2_ENST00000523438.1_Silent_p.L589L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1164	Ig-like C2-type 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCAAATGGCTCAAGGATGATG	0.418000													8	59					0	0	0.278610	0	0
STAG2	10735	broad.mit.edu	37	X	123227962	123227962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chrX:123227962G>T	ENST00000371160.1	+	32	3852	c.3562G>T	c.(3562-3564)Gga>Tga	p.G1188*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.G1225*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.G1119*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.G1225*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.G1188*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.G1188*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1188					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCTTAATGAGGGAATGGATTT	0.363000													30	14					3.69857e-22	4.15751e-22	0.729181	1	0
KLHL41	10324	broad.mit.edu	37	2	170366815	170366815	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr2:170366815C>T	ENST00000284669.1	+	1	604	c.527C>T	c.(526-528)cCa>cTa	p.P176L	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		CAACTGTCTCCACAGGAACTG	0.433000													40	99					0	0	0.827153	0	0
BRD2	6046	broad.mit.edu	37	6	32945601	32945601	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr6:32945601C>T	ENST00000395289.2	+	9	2998	c.1397C>T	c.(1396-1398)tCt>tTt	p.S466F	BRD2_ENST00000443797.2_Missense_Mutation_p.S346F|BRD2_ENST00000374825.4_Missense_Mutation_p.S466F|BRD2_ENST00000395287.1_Missense_Mutation_p.S466F|BRD2_ENST00000374831.4_Missense_Mutation_p.S466F|BRD2_ENST00000449085.2_Missense_Mutation_p.S419F			P25440	BRD2_HUMAN	bromodomain containing 2	466					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TTACCAGTCTCTACTGCCATG	0.498000													13	73					0	0	0.457914	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7527093	7527093	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:7527093G>T	ENST00000359920.6	+	11	2197	c.1944G>T	c.(1942-1944)caG>caT	p.Q648H	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.Q490H|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R606I	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	648					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGAAACAGCAGATCTACCTGG	0.637000													30	61					3.00307e-07	3.25685e-07	0.729181	1	0
KCNT2	343450	broad.mit.edu	37	1	196309666	196309666	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:196309666C>T	ENST00000367433.5	-	16	1689	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	KCNT2_ENST00000367431.4_Missense_Mutation_p.D480N|KCNT2_ENST00000294725.9_Missense_Mutation_p.D530N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.D141N|KCNT2_ENST00000609185.1_Missense_Mutation_p.D480N	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	530	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTTTATTATCCTCCCTCCTA	0.303000													20	29					0	0	0.639603	0	0
ZFHX3	463	broad.mit.edu	37	16	72821498	72821498	+	Silent	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr16:72821498C>G	ENST00000268489.5	-	10	11349	c.10677G>C	c.(10675-10677)acG>acC	p.T3559T	ZFHX3_ENST00000397992.5_Silent_p.T2645T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3559					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTGCTGCTCTCGTGATTGTTC	0.577000													64	112					0	0	0.870114	0	0
NBPF1	55672	broad.mit.edu	37	1	16893821	16893821	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:16893821T>A	ENST00000430580.2	-	25	3579	c.2692A>T	c.(2692-2694)Aaa>Taa	p.K898*	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	898	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCAGGCCCTTTCTCATCCAGC	0.493000													26	868					0	0	0.717897	0	0
KIF16B	55614	broad.mit.edu	37	20	16553909	16553909	+	Silent	SNP	G	G	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr20:16553909G>T	ENST00000354981.2	-	1	169	c.12C>A	c.(10-12)gtC>gtA	p.V4V	KIF16B_ENST00000355755.3_Silent_p.V4V|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.V4V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	4	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CGGCCACCTTGACCGATGCCA	0.721000													3	8					0.004672	0.00496199	0.115264	1	0
MEI1	150365	broad.mit.edu	37	22	42180390	42180390	+	Silent	SNP	C	C	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr22:42180390C>A	ENST00000401548.3	+	25	3175	c.3135C>A	c.(3133-3135)ctC>ctA	p.L1045L	MEI1_ENST00000300398.4_Silent_p.L53L|MEI1_ENST00000400107.1_Silent_p.L378L|MEI1_ENST00000476893.1_3'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1045							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAAGGCTCTCAGCTTTCCAA	0.502000													11	16					1.08611e-07	1.18625e-07	0.387290	1	0
NLRP4	147945	broad.mit.edu	37	19	56373457	56373457	+	Silent	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:56373457C>G	ENST00000301295.6	+	5	2540	c.2118C>G	c.(2116-2118)ctC>ctG	p.L706L	NLRP4_ENST00000346986.5_Silent_p.L706L|NLRP4_ENST00000587891.1_Silent_p.L631L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	706							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCACGAAACTCTCTCGTGATG	0.468000													29	46					0	0	0.693898	0	0
ZNF517	340385	broad.mit.edu	37	8	146029623	146029623	+	Splice_Site	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr8:146029623G>A	ENST00000359971.3	+	4	381	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ZNF517_ENST00000525105.1_Splice_Site_p.E92K|ZNF517_ENST00000526178.1_3'UTR|ZNF517_ENST00000531720.1_Splice_Site_p.D92N	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCTGTGCACAGGTGAGTACAA	0.597000													11	8					0	0	0.361761	0	0
MED12	9968	broad.mit.edu	37	X	70341517	70341517	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chrX:70341517C>G	ENST00000333646.6	+	7	1151	c.952C>G	c.(952-954)Cat>Gat	p.H318D	MED12_ENST00000374102.1_Missense_Mutation_p.H318D|MED12_ENST00000374080.3_Missense_Mutation_p.H318D	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	318					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCACTCATCTCATGTTATATC	0.552000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						31	7					0	0	0.740014	0	0
KIF13A	63971	broad.mit.edu	37	6	17781433	17781433	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr6:17781433G>A	ENST00000378814.5	-	29	3604	c.3605C>T	c.(3604-3606)cCc>cTc	p.P1202L	KIF13A_ENST00000259711.6_Missense_Mutation_p.P1215L|KIF13A_ENST00000378826.2_Missense_Mutation_p.P1215L|KIF13A_ENST00000378843.2_Missense_Mutation_p.P1202L|KIF13A_ENST00000378816.5_Missense_Mutation_p.P1215L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1215					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTTTATGATGGGCAGGTAGAA	0.517000													22	27					0	0	0.624587	0	0
HEG1	57493	broad.mit.edu	37	3	124746195	124746195	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr3:124746195G>A	ENST00000311127.4	-	3	834	c.767C>T	c.(766-768)tCg>tTg	p.S256L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	256						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GCTCCAAGCCGAAGTGGTGGC	0.547000													6	14					0	0	0.217242	0	0
CPSF3	51692	broad.mit.edu	37	2	9576354	9576354	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr2:9576354G>A	ENST00000460593.1	+	7	1651	c.513G>A	c.(511-513)ggG>ggA	p.G171G	CPSF3_ENST00000238112.3_Silent_p.G208G			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	208					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CTACTTATGGGACCCATATCC	0.403000													18	45					0	0	0.557998	0	0
KIF17	57576	broad.mit.edu	37	1	21024914	21024914	+	Silent	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:21024914C>T	ENST00000247986.2	-	6	1501	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	KIF17_ENST00000400463.3_Silent_p.V397V|KIF17_ENST00000375044.1_Silent_p.V297V|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	397					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CATGCTGGATCACAGGTTGGG	0.632000													15	32					0	0	0.500413	0	0
DNAJC6	9829	broad.mit.edu	37	1	65871788	65871788	+	Silent	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:65871788C>T	ENST00000395325.3	+	16	2449	c.2292C>T	c.(2290-2292)aaC>aaT	p.N764N	DNAJC6_ENST00000263441.7_Silent_p.N751N|DNAJC6_ENST00000371069.4_Silent_p.N821N	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	764					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						GGGGCCAGAACGAACGTGGGA	0.542000													24	40					0	0	0.667858	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719469	140719469	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr5:140719469G>C	ENST00000394576.2	+	1	931	c.931G>C	c.(931-933)Gat>Cat	p.D311H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATTATGAGGATGCTACATT	0.418000													63	125					0	0	0.870114	0	0
OR5K1	26339	broad.mit.edu	37	3	98188869	98188869	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr3:98188869T>C	ENST00000332650.5	+	1	546	c.449T>C	c.(448-450)aTa>aCa	p.I150T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGGGCCTTCATAGCTGGAAAC	0.453000													53	113					0	0	0.870114	0	0
OPTC	26254	broad.mit.edu	37	1	203466222	203466222	+	Silent	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:203466222C>T	ENST00000367222.2	+	3	465	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	117	LRRNT.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGGCTGCTACTGAGTTCCCA	0.577000													23	18					0	0	0.654019	0	0
RASL10B	91608	broad.mit.edu	37	17	34068088	34068088	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr17:34068088G>A	ENST00000268864.3	+	4	753	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	126	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATCATCATCGTGGGCAACAA	0.637000													15	26					0	0	0.520397	0	0
TG	7038	broad.mit.edu	37	8	133894157	133894157	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr8:133894157G>C	ENST00000220616.4	+	6	728	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	TG_ENST00000377869.1_Missense_Mutation_p.E230Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	230	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTTCCCTGAGGTATCTGG	0.507000													40	11					0	0	0.847076	0	0
FILIP1	27145	broad.mit.edu	37	6	76024278	76024278	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr6:76024278C>G	ENST00000393004.2	-	5	1491	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E424Q|FILIP1_ENST00000370020.1_Missense_Mutation_p.E325Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	424										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						TTCTCAACTTCAAGTCTGAGC	0.413000													42	99					0	0	0.840704	0	0
SACS	26278	broad.mit.edu	37	13	23911384	23911384	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr13:23911384G>C	ENST00000382298.3	-	10	7219	c.6631C>G	c.(6631-6633)Caa>Gaa	p.Q2211E	SACS_ENST00000382292.3_Missense_Mutation_p.Q2211E|SACS_ENST00000402364.1_Missense_Mutation_p.Q1461E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2211					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGGATTGTTTGATATTTTGCA	0.388000													8	27					0	0	0.278610	0	0
UTP3	57050	broad.mit.edu	37	4	71554785	71554785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr4:71554785C>T	ENST00000254803.2	+	1	590	c.391C>T	c.(391-393)Cag>Tag	p.Q131*		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	131	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GTCGTGGGGTCAGAGGAAAAA	0.567000													6	28					0	0	0.217242	0	0
NEFM	4741	broad.mit.edu	37	8	24775171	24775171	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr8:24775171G>A	ENST00000221166.5	+	3	2585	c.1803G>A	c.(1801-1803)ctG>ctA	p.L601L	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Silent_p.L225L|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Silent_p.L601L			P07197	NFM_HUMAN	neurofilament, medium polypeptide	601	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGAGGAGCTGGTGGCAGATG	0.502000													5	32					0	0	0.184627	0	0
IWS1	55677	broad.mit.edu	37	2	128263050	128263050	+	Silent	SNP	T	T	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr2:128263050T>A	ENST00000295321.4	-	3	688	c.429A>T	c.(427-429)gcA>gcT	p.A143A	IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Silent_p.A150A	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	143	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGAGTCACTTGCATGCCCAT	0.468000													37	57					0	0	0.779181	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													6	89					0	0	0.361761	0	0
RYR3	6263	broad.mit.edu	37	15	33993191	33993191	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr15:33993191G>C	ENST00000389232.4	+	42	6463	c.6393G>C	c.(6391-6393)atG>atC	p.M2131I	RYR3_ENST00000415757.3_Missense_Mutation_p.M2131I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2131	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCCGTCGATGAGGGGATCCA	0.567000											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	5					0	0	0.307466	0	0
MYO5A	4644	broad.mit.edu	37	15	52613560	52613560	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr15:52613560C>G	ENST00000399231.3	-	37	5115	c.4872G>C	c.(4870-4872)atG>atC	p.M1624I	MYO5A_ENST00000358212.6_Missense_Mutation_p.M1649I|MYO5A_ENST00000399233.2_Missense_Mutation_p.M1621I|MYO5A_ENST00000553916.1_Missense_Mutation_p.M1622I|MYO5A_ENST00000356338.6_Missense_Mutation_p.M1597I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1624	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTTACCAATCATTGGCTGAA	0.532000													28	27					0	0	0.693898	0	0
TOPBP1	11073	broad.mit.edu	37	3	133376680	133376680	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr3:133376680C>T	ENST00000260810.5	-	4	456	c.325G>A	c.(325-327)Gta>Ata	p.V109I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	109	BRCT 1.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GATATGGTTACATCAGACATA	0.343000								Other conserved DNA damage response genes					8	23					0	0	0.335167	0	0
OR2M2	391194	broad.mit.edu	37	1	248343675	248343675	+	Silent	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:248343675C>T	ENST00000359682.2	+	1	388	c.388C>T	c.(388-390)Cta>Tta	p.L130L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TTGCCACCCTCTAAGATATAC	0.403000													110	231					0	0	0.870114	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													4	96					0	0	0.150653	0	0
BRD4	23476	broad.mit.edu	37	19	15355347	15355347	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:15355347G>A	ENST00000263377.2	-	13	2497	c.2276C>T	c.(2275-2277)cCg>cTg	p.P759L		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	759	Poly-Pro.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ctggggaggcgggggcggctg	0.706000			T	C15orf55	lethal midline carcinoma of young people								8	11					0	0	0.278610	0	0
LAMA4	3910	broad.mit.edu	37	6	112435893	112435893	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr6:112435893A>G	ENST00000230538.7	-	37	5576	c.5179T>C	c.(5179-5181)Tgt>Cgt	p.C1727R	LAMA4_ENST00000424408.2_Missense_Mutation_p.C1720R|LAMA4_ENST00000522006.1_Missense_Mutation_p.C1720R|LAMA4_ENST00000389463.4_Missense_Mutation_p.C1720R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1727	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTGCCATCACAGAGACTCTGC	0.438000													20	42					0	0	0.667858	0	0
PCLO	27445	broad.mit.edu	37	7	82578803	82578803	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr7:82578803C>T	ENST00000333891.9	-	6	11438	c.11101G>A	c.(11101-11103)Gag>Aag	p.E3701K	PCLO_ENST00000423517.2_Missense_Mutation_p.E3701K|PCLO_ENST00000437081.1_Missense_Mutation_p.E421K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTATAGCCCTCGGTATACTGA	0.463000													45	154					0	0	0.870114	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000													7	244					0	0	0.248553	0	0
SLC38A7	55238	broad.mit.edu	37	16	58710202	58710202	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr16:58710202G>A	ENST00000570101.1	-	6	1642	c.759C>T	c.(757-759)ttC>ttT	p.F253F	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564100.1_Silent_p.F253F|SLC38A7_ENST00000564010.1_Silent_p.F164F|SLC38A7_ENST00000219320.4_Silent_p.F253F			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	253					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CCTGAAATCCGAAGCAGATGG	0.582000													11	79					0	0	0.411799	0	0
VANGL2	57216	broad.mit.edu	37	1	160394991	160394991	+	Silent	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:160394991G>A	ENST00000368061.2	+	8	1863	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	463					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACATTGGTGAGCGAGGAGC	0.557000													21	24					0	0	0.608945	0	0
TRPC4	7223	broad.mit.edu	37	13	38211404	38211404	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr13:38211404G>A	ENST00000379705.3	-	11	3427	c.2570C>T	c.(2569-2571)gCt>gTt	p.A857V	TRPC4_ENST00000379679.1_Missense_Mutation_p.A684V|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.A684V|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.A862V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	857	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATTTTGCTCAGCAGCATTTTG	0.428000													13	37					0	0	0.457914	0	0
SIRT2	22933	broad.mit.edu	37	19	39369928	39369928	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:39369928C>T	ENST00000249396.7	-	16	1338	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	SIRT2_ENST00000358931.5_3'UTR|SIRT2_ENST00000392081.2_Missense_Mutation_p.R309Q	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	346					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GTGCTCCCTCCGGACAAGGTC	0.632000													8	14					0	0	0.335167	0	0
KIAA1432	57589	broad.mit.edu	37	9	5762588	5762588	+	Silent	SNP	C	C	T	rs146834937		TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr9:5762588C>T	ENST00000414202.2	+	18	2231	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	KIAA1432_ENST00000418622.3_Silent_p.I601I|KIAA1432_ENST00000449720.2_Silent_p.I564I|KIAA1432_ENST00000381532.2_Silent_p.I601I|KIAA1432_ENST00000251879.6_Silent_p.I680I	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	680						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GACAGCTCATCATGATGCAGA	0.433000													14	18					0	0	0.435327	0	0
TIAM2	26230	broad.mit.edu	37	6	155458565	155458565	+	Silent	SNP	C	C	T	rs144697464		TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr6:155458565C>T	ENST00000461783.3	+	7	2722	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	TIAM2_ENST00000318981.5_Silent_p.A483A|TIAM2_ENST00000360366.4_Silent_p.A483A|TIAM2_ENST00000529824.2_Silent_p.A483A|TIAM2_ENST00000456144.1_Silent_p.A483A|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	483					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGAAACCGCCGAGTCCAGCA	0.532000													29	69					0	0	0.729181	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	69					0	0	0.184627	0	0
KRT74	121391	broad.mit.edu	37	12	52967192	52967192	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr12:52967192G>A	ENST00000549343.1	-	1	408	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	KRT74_ENST00000305620.2_Missense_Mutation_p.P124S			Q7RTS7	K2C74_HUMAN	keratin 74	124	Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ACGTTGAGGGGGGCCAAGAGG	0.592000													28	66					0	0	0.693898	0	0
MBLAC1	255374	broad.mit.edu	37	7	99725616	99725616	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr7:99725616G>A	ENST00000398075.2	+	2	997	c.598G>A	c.(598-600)Gag>Aag	p.E200K		NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	200							hydrolase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						AGATGGGGACGAGGATTCGTG	0.701000													6	13					0	0	0.248553	0	0
CD3EAP	10849	broad.mit.edu	37	19	45912210	45912210	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:45912210G>C	ENST00000309424.3	+	3	1472	c.984G>C	c.(982-984)aaG>aaC	p.K328N	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.K330N|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	328					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCCCTACGAAGAAGAGGAAAA	0.602000													32	82					0	0	0.750413	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997273	19997273	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr18:19997273G>C	ENST00000391403.2	-	1	605	c.502C>G	c.(502-504)Caa>Gaa	p.Q168E		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	168						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCATTCGCTTGAAATCTCTTG	0.393000													34	44					0	0	0.779181	0	0
HCLS1	3059	broad.mit.edu	37	3	121350795	121350795	+	Silent	SNP	G	G	A	rs148435056		TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr3:121350795G>A	ENST00000314583.3	-	14	1450	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D	HCLS1_ENST00000428394.2_Silent_p.D416D|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	453	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CAGTGATTACGTCGTCCGGAT	0.502000													22	68					0	0	0.592651	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				21	7					0	0	0.624587	0	0
PTPRT	11122	broad.mit.edu	37	20	41100919	41100919	+	Silent	SNP	C	C	T	rs74167780		TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr20:41100919C>T	ENST00000373198.4	-	8	1672	c.1437G>A	c.(1435-1437)caG>caA	p.Q479Q	PTPRT_ENST00000373201.1_Silent_p.Q479Q|PTPRT_ENST00000373187.1_Silent_p.Q479Q|PTPRT_ENST00000373184.1_Silent_p.Q479Q|PTPRT_ENST00000373193.3_Silent_p.Q479Q|PTPRT_ENST00000373190.1_Silent_p.Q479Q|PTPRT_ENST00000356100.2_Silent_p.Q479Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTTCCTCAGTCTGCACCACCA	0.552000													27	33					0	0	0.681144	0	0
ZNF296	162979	broad.mit.edu	37	19	45575067	45575067	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr19:45575067G>A	ENST00000303809.2	-	3	1434	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	407					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCCGGTGTGTGAGCGCCGGTG	0.652000													34	57					0	0	0.769981	0	0
PLRG1	5356	broad.mit.edu	37	4	155459229	155459229	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr4:155459229T>C	ENST00000499023.2	-	13	1309	c.1183A>G	c.(1183-1185)Ata>Gta	p.I395V	PLRG1_ENST00000393905.2_Missense_Mutation_p.I395V|PLRG1_ENST00000302078.5_Missense_Mutation_p.I386V	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	395						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CACTGCTTTATGTTATCTGGA	0.323000													11	32					0	0	0.361761	0	0
RBM10	8241	broad.mit.edu	37	X	47038856	47038856	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chrX:47038856C>G	ENST00000377604.3	+	9	1605	c.863C>G	c.(862-864)tCa>tGa	p.S288*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.S211*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.S211*|RBM10_ENST00000478410.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	288					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAAGCCCTGTCACAGGGCTCG	0.647000													3	6					0	0	0.115264	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789589	34789589	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr6:34789589C>G	ENST00000192788.5	+	2	375	c.204C>G	c.(202-204)atC>atG	p.I68M	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.I68M	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	68										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGGCCTCCATCCGGGTGAGAA	0.547000													18	50					0	0	0.575678	0	0
TOPBP1	11073	broad.mit.edu	37	3	133376679	133376679	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr3:133376679A>T	ENST00000260810.5	-	4	457	c.326T>A	c.(325-327)gTa>gAa	p.V109E		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	109	BRCT 1.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AGATATGGTTACATCAGACAT	0.338000								Other conserved DNA damage response genes					8	23					0	0	0.335167	0	0
CASP2	835	broad.mit.edu	37	7	142991400	142991400	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr7:142991400C>G	ENST00000310447.5	+	5	794	c.553C>G	c.(553-555)Caa>Gaa	p.Q185E	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	185					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TGAATTTTATCAAACACACTT	0.433000													19	70					0	0	0.557998	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	93					0	0	0.150653	0	0
DES	1674	broad.mit.edu	37	2	220285374	220285374	+	Missense_Mutation	SNP	C	C	T	rs62636491		TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr2:220285374C>T	ENST00000373960.3	+	4	979	c.893C>T	c.(892-894)tCg>tTg	p.S298L		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	298	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTACAAGTCGAAGGTGGGT	0.597000													13	36					0	0	0.479597	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10551356	10551356	+	Nonsense_Mutation	SNP	C	C	A	rs148070233	byFrequency	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr16:10551356C>A	ENST00000396560.2	+	7	1549	c.1322C>A	c.(1321-1323)tCa>tAa	p.S441*	ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.S441*|ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.S441*|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.S441*	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						ATTAATTTGTCATCAGATCAA	0.289000													6	129					0.27861	0.289905	0.278610	1	0
SPAG9	9043	broad.mit.edu	37	17	49156970	49156970	+	Silent	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr17:49156970C>T	ENST00000262013.7	-	2	607	c.399G>A	c.(397-399)ctG>ctA	p.L133L	SPAG9_ENST00000357122.4_Silent_p.L133L|SPAG9_ENST00000505279.1_Silent_p.L133L|RP11-481C4.1_ENST00000509833.1_RNA	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	133					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTTTCGCTTTCAGCTCAAGTT	0.393000													29	67					0	0	0.729181	0	0
AIFM2	84883	broad.mit.edu	37	10	71873971	71873971	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr10:71873971G>C	ENST00000307864.1	-	9	1298	c.1085C>G	c.(1084-1086)tCt>tGt	p.S362C	AIFM2_ENST00000373248.1_Missense_Mutation_p.S362C	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	362					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CCAGCTCGTAGAGACGAACAG	0.602000													16	43					0	0	0.500413	0	0
UMODL1	89766	broad.mit.edu	37	21	43535990	43535990	+	Silent	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr21:43535990G>C	ENST00000400424.2	+	14	2550	c.2154G>C	c.(2152-2154)cgG>cgC	p.R718R	UMODL1_ENST00000408989.2_Silent_p.R918R|UMODL1_ENST00000408910.2_Silent_p.R790R|UMODL1_ENST00000400427.1_Silent_p.R846R	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCAGCCCGGAAGCTCATTG	0.403000													8	22					0	0	0.307466	0	0
TPSD1	23430	broad.mit.edu	37	16	1306599	1306599	+	Silent	SNP	G	G	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr16:1306599G>C	ENST00000211076.3	+	2	313	c.165G>C	c.(163-165)ctG>ctC	p.L55L	TPSD1_ENST00000397534.2_Silent_p.L48L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	55	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AGGTGAGCCTGAGAGTCCGCG	0.687000													35	55					0	0	0.788014	0	0
LAMA2	3908	broad.mit.edu	37	6	129649456	129649456	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr6:129649456C>G	ENST00000421865.2	+	29	4259	c.4210C>G	c.(4210-4212)Caa>Gaa	p.Q1404E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1404	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGCGTTCTCAACCAGGTGG	0.502000													31	46					0	0	0.729181	0	0
KCNV2	169522	broad.mit.edu	37	9	2718355	2718355	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr9:2718355C>T	ENST00000382082.3	+	1	854	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	206						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)		CTTCGAGGAGCGGCGCGACGA	0.682000													4	5					0	0	0.150653	0	0
ITPR3	3710	broad.mit.edu	37	6	33647908	33647908	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr6:33647908G>A	ENST00000374316.5	+	32	5282	c.4222G>A	c.(4222-4224)Gag>Aag	p.E1408K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E1408K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1408					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						CTGCATCACTGAGGTGGGGAT	0.602000													5	13					0	0	0.184627	0	0
MUC6	4588	broad.mit.edu	37	11	1018431	1018431	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr11:1018431G>A	ENST00000421673.2	-	31	4420	c.4370C>T	c.(4369-4371)cCa>cTa	p.P1457L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1457	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGAGTACTTGGAGTCACCAA	0.552000													8	351					0	0	0.335167	0	0
CFHR4	10877	broad.mit.edu	37	1	196884265	196884265	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:196884265A>T	ENST00000367416.2	+	9	1671	c.1534A>T	c.(1534-1536)Ata>Tta	p.I512L	CFHR4_ENST00000367418.2_Missense_Mutation_p.I266L|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.I266L|CFHR4_ENST00000608469.1_Missense_Mutation_p.I136L	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ACCAAGATGCATACGTAAGTT	0.353000													17	57					0	0	0.667858	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732																											cagagtgatttcggatgaatt	0.507000													4	94					0	0	0.150653	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													4	4	---	---	---	---					
LPPR4	9890	broad.mit.edu	37	1	99767391	99767391	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:99767391delA	ENST00000370185.3	+	6	1401	c.904delA	c.(904-906)aagfs	p.K302fs	LPPR4_ENST00000370184.1_Frame_Shift_Del_p.K144fs|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		302							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AACTCAGTATAAGAACCACCC	0.373													25	53	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201984341	201984342	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr1:201984341_201984342insA	ENST00000359651.3	+	8	4198_4199	c.1006_1007insA	c.(1006-1008)tacfs	p.Y336fs	ELF3_ENST00000367284.5_Frame_Shift_Ins_p.Y336fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.Y336fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	336					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ACCCAGGTACTACTACAAACGG	0.594													32	36	---	---	---	---					
HES1	3280	broad.mit.edu	37	3	193855609	193855610	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr3:193855609_193855610insC	ENST00000232424.3	+	4	666_667	c.430_431insC	c.(430-432)gccfs	p.A144fs		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	144					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CGGCCACCTGGCCAACTGCATG	0.703													18	41	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150922924	150922932	+	In_Frame_Del	DEL	AGATGCTTT	AGATGCTTT	-	rs148551207		TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr5:150922924_150922932delAGATGCTTT	ENST00000261800.5	-	9	7768_7776	c.7756_7764delAAAGCATCT	c.(7756-7764)aaagcatctdel	p.KAS2586del		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2586	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTGTACTCAGATGCTTTGAACTGTGGG	0.474													37	98	---	---	---	---					
FOXB2	442425	broad.mit.edu	37	9	79635062	79635064	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr9:79635062_79635064delGCC	ENST00000376708.1	+	1	492_494	c.492_494delGCC	c.(490-495)cagccg>cag	p.P174del		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	174	Poly-Pro.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						accCACCCCAgccgccgccgccg	0.704													3	4	---	---	---	---					
FKBP15	23307	broad.mit.edu	37	9	115955776	115955776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr9:115955776delT	ENST00000238256.3	-	11	1178	c.1061delA	c.(1060-1062)aatfs	p.N354fs		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	354					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACTTACTGTATTTATTGCAAG	0.433													2	4	---	---	---	---					
RP11-98L5.4	0	broad.mit.edu	37	9	138480570	138480570	+	RNA	DEL	G	G	-			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr9:138480570delG	ENST00000434697.1	+	0	116																											AGATCATTCTGCACAGATGGT	0.677													2	4	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256534	69256535	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr14:69256534_69256535insG	ENST00000439696.2	-	2	1033_1034	c.732_733insC	c.(730-735)cccgatfs	p.D245fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.D245fs|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	245					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTGGTGCCATCGGGCAGGGTAG	0.668											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	111	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													3	5	---	---	---	---					
DHX38	9785	broad.mit.edu	37	16	72135070	72135070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CU-A72E-01A-12D-A339-08	TCGA-CU-A72E-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94bbb389-7eab-439d-a9eb-6463a56d4017	f533c841-4048-4cb8-99f3-a3da36484bee	g.chr16:72135070delG	ENST00000268482.3	+	10	1873	c.1364delG	c.(1363-1365)aggfs	p.R455fs	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	455					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CGGAAGCACAGGGAGCAGAAG	0.502													29	60	---	---	---	---