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
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	62					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848631	215848631	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:215848631C>T	ENST00000366943.2	-	63	13008	c.12622G>A	c.(12622-12624)Gac>Aac	p.D4208N	USH2A_ENST00000307340.3_Missense_Mutation_p.D4208N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4208	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D4208N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTTCTCGTCGGCCTGGATT	0.393000										HNSCC(13;0.011)			12	67					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242493	4242493	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:4242493G>A	ENST00000399609.3	-	6	1095	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	SRL_ENST00000537996.1_Silent_p.F319F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	820	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CTCCATCACTGAAGAAGGTCA	0.493000													47	136					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48428790	48428790	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:48428790C>T	ENST00000435803.1	+	37	11651	c.11627C>T	c.(11626-11628)aCa>aTa	p.T3876I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3876	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGCTGGGGACAAACGGTGCC	0.498000													20	55					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265899	3265899	+	RNA	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:3265899C>T	ENST00000576468.1	+	0	418																											CTCTGGCTGTCTCATGCAGAT	0.517000													9	44					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72863624	72863624	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:72863624C>T	ENST00000261180.4	+	4	1363	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	423					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTGCTGGATCCCAGTGTTTC	0.373000													8	43					0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1391351	1391351	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:1391351C>G	ENST00000259806.1	+	1	1283	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	390					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		GAGGACCTCTCAGGTAACGCA	0.677000													5	23					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840967	142840967	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:142840967C>T	ENST00000309575.3	+	2	2693	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	437					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAAGACACTACGGAGAGTGTA	0.602000													12	49					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57919632	57919632	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:57919632C>G	ENST00000355673.3	+	6	1237	c.881C>G	c.(880-882)aCt>aGt	p.T294S	MBD6_ENST00000431731.2_Missense_Mutation_p.T294S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	294	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCTTCAGCCACTATGCACCTG	0.667000													22	73					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102669089	102669089	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:102669089G>C	ENST00000393772.2	-	4	601	c.175C>G	c.(175-177)Cac>Gac	p.H59D	FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.H59D|FBXL13_ENST00000455112.2_Missense_Mutation_p.H59D|FBXL13_ENST00000436908.1_Missense_Mutation_p.H59D|FBXL13_ENST00000379305.3_Missense_Mutation_p.H59D|FBXL13_ENST00000379306.3_Missense_Mutation_p.H59D|FBXL13_ENST00000379308.3_Missense_Mutation_p.H59D|FBXL13_ENST00000313221.4_Missense_Mutation_p.H59D			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	59										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GAGTGCCAGTGATGAAATACA	0.313000													16	33					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63709405	63709405	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:63709405G>C	ENST00000421025.1	+	2	179		c.e2-1			NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCTGCGTCCAGAGCTCCAGTT	0.498000													5	15					0	0	1	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269687	100269687	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:100269687C>G	ENST00000545021.1	-	4	968	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	LYSMD4_ENST00000332728.4_Missense_Mutation_p.E178Q|LYSMD4_ENST00000409796.1_Missense_Mutation_p.E178Q|LYSMD4_ENST00000344791.2_Missense_Mutation_p.E179Q|LYSMD4_ENST00000604213.1_Intron			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	178					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			ACTGCACGCTCAATATCCTGG	0.577000													46	147					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227381593	227381593	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:227381593G>C	ENST00000366769.3	-	5	1784	c.493C>G	c.(493-495)Cta>Gta	p.L165V	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L165V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L165V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L165V	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	165	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTGCTGAGTAGAGTAAGCAAA	0.338000													20	32					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067866	190067866	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:190067866G>A	ENST00000367462.3	-	8	1814	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S426F	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		528						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTTACGCCAGGAGGGATCAAA	0.433000													15	128					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001029	142001029	+	RNA	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:142001029C>T	ENST00000455382.2	+	0	195																											AGTGATCTTGCACTGTGTCCC	0.423000													6	21					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266372	3266372	+	RNA	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:3266372C>T	ENST00000576468.1	+	0	418																											ATGGCACCATCATGTCTCCAT	0.522000													11	27					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701539	50701539	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr20:50701539C>G	ENST00000361387.2	-	9	1555	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.E280Q	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TAGCTGCACTCTGGACACTTC	0.642000													38	142					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066583	73066583	+	RNA	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:73066583G>A	ENST00000429829.1	-	0	6005					NR_001564.2																						GGGAGGCCAAGAAATGGGGCC	0.463000													18	56					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265799	3265799	+	RNA	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:3265799C>T	ENST00000576468.1	+	0	418																											ACTTCTTCCTCAGCAACATGT	0.542000													19	70					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11597683	11597683	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:11597683G>C	ENST00000262442.3	+	22	4859	c.4791G>C	c.(4789-4791)aaG>aaC	p.K1597N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K1597N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1597	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCGACACCAAGAGGCTTGCCT	0.512000													21	42					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33232217	33232217	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:33232217C>T	ENST00000445902.2	-	14	1676	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.M361I	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	486					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCTGAACATTCATCTCCAGGA	0.547000													24	109					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119050915	119050915	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:119050915G>A	ENST00000409109.1	+	7	2772	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	NLRX1_ENST00000292199.2_Missense_Mutation_p.E729K|NLRX1_ENST00000409265.4_Missense_Mutation_p.E729K|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.E729K|NLRX1_ENST00000409991.1_Missense_Mutation_p.E729K			Q86UT6	NLRX1_HUMAN	NLR family member X1	729	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCCCTGGATGAGGTGAACTT	0.627000													24	79					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266428	3266428	+	RNA	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:3266428C>G	ENST00000576468.1	+	0	418																											GATATAGCAGCTGCTGTGAGG	0.493000													5	16					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429020	135429020	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:135429020C>G	ENST00000394143.1	+	6	3446	c.3155C>G	c.(3154-3156)tCa>tGa	p.S1052*	GPR112_ENST00000394141.1_Nonsense_Mutation_p.S847*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S847*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.S989*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S1052*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1052					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAGATGTCTCAAATCTATCC	0.468000													79	249					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2160929	2160929	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:2160929G>C	ENST00000511885.2	-	14	1917	c.1564C>G	c.(1564-1566)Ctg>Gtg	p.L522V	POLN_ENST00000382865.1_Missense_Mutation_p.L522V|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	522					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGGTCTCGCAGAGCATTTAAC	0.328000								DNA polymerases (catalytic subunits)					18	59					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107655427	107655427	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:107655427C>T	ENST00000369037.4	-	2	683	c.406G>A	c.(406-408)Gac>Aac	p.D136N	PDSS2_ENST00000453874.2_Missense_Mutation_p.D136N|PDSS2_ENST00000369031.4_Missense_Mutation_p.D136N	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	136					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CTGACCATGTCATAGTTCTGA	0.463000													19	70					0	0	1	0	0
ZNF736	728927	broad.mit.edu	37	7	63809063	63809063	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:63809063T>G	ENST00000355095.4	+	5	1144	c.822T>G	c.(820-822)aaT>aaG	p.N274K	ZNF736_ENST00000423484.1_Missense_Mutation_p.N274K	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN	zinc finger protein 736	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						ACCTTACTAATCATAAGAGAA	0.378000													2	6					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025010	5025010	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:5025010G>A	ENST00000256495.3	+	5	1475	c.872G>A	c.(871-873)cGg>cAg	p.R291Q		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	291						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AAAAAGAACCGGATGCAGCTT	0.562000													5	90					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134492849	134492849	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:134492849G>C	ENST00000367858.5	-	11	1690	c.1093C>G	c.(1093-1095)Cat>Gat	p.H365D	SGK1_ENST00000367857.5_Missense_Mutation_p.H260D|SGK1_ENST00000413996.3_Missense_Mutation_p.H284D|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Missense_Mutation_p.H298D|SGK1_ENST00000237305.7_Missense_Mutation_p.H270D|SGK1_ENST00000475719.2_Missense_Mutation_p.H226D	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	270	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGCTGCTTATGAAGCACCTCA	0.493000													8	30					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64960345	64960345	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr10:64960345C>T	ENST00000399262.2	-	11	5385	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K	JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1541K|JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1504K	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1723					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCCCTATCTCACAGCAGGAG	0.398000													10	18					0	0	1	0	0
TRIM6	117854	broad.mit.edu	37	11	5626677	5626677	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:5626677G>C	ENST00000380097.3	+	4	956	c.714G>C	c.(712-714)aaG>aaC	p.K238N	TRIM6_ENST00000515022.1_Missense_Mutation_p.K35N|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Missense_Mutation_p.K35N|TRIM6_ENST00000380107.1_Missense_Mutation_p.K184N|TRIM6_ENST00000506134.1_Missense_Mutation_p.K35N|TRIM6_ENST00000278302.5_Missense_Mutation_p.K210N|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K238N|TRIM6_ENST00000507320.1_Missense_Mutation_p.K35N	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGAAGAGAAGAAGGGGCTAC	0.517000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	25	71					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039157	31039157	+	Silent	SNP	T	T	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:31039157T>G	ENST00000355537.3	+	4	2778	c.2631T>G	c.(2629-2631)tcT>tcG	p.S877S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	877					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGGCATGTCTTCGGAGGTCC	0.557000													42	86					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Silent	SNP	G	G	A	rs4968502	by1000genomes	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:60351457G>A	ENST00000602932.1	-	2	234	c.204C>T	c.(202-204)cgC>cgT	p.R68R	TBC1D3P2_ENST00000581291.1_RNA																							CCAACTACCCGCGACCTCTAC	0.537000													15	391					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125894	58125894	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:58125894G>A	ENST00000357377.3	-	1	648	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATATGAACAGATAGGAAATC	0.363000													12	51					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207345997	207345997	+	Silent	SNP	C	C	T	rs141683172		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:207345997C>T	ENST00000264377.3	+	3	802	c.474C>T	c.(472-474)ttC>ttT	p.F158F	ADAM23_ENST00000374415.3_Silent_p.F158F|ADAM23_ENST00000374416.1_Silent_p.F158F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	158					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAGCCTTCGGCTCCAAAT	0.383000													12	41					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129290645	129290645	+	Silent	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:129290645G>T	ENST00000393239.1	-	16	3298	c.3120C>A	c.(3118-3120)gcC>gcA	p.A1040A	PLXND1_ENST00000324093.4_Silent_p.A1040A			Q9Y4D7	PLXD1_HUMAN	plexin D1	1040	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GAGCCGGCAGGGCCCCCTCAG	0.662000													19	45					1.50039e-11	1.58309e-11	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144945596	144945596	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:144945596G>A	ENST00000525985.1	-	2	1897	c.1826C>T	c.(1825-1827)aCg>aTg	p.T609M				P58107	EPIPL_HUMAN	epiplakin 1	609						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AATGCAGCCCGTACCCTGCAG	0.657000													9	18					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70616830	70616830	+	Missense_Mutation	SNP	T	T	C	rs3180401	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:70616830T>C	ENST00000370952.3	-	13	1577	c.1498A>G	c.(1498-1500)Atc>Gtc	p.I500V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	500			I -> V (in dbSNP:rs3180401).							breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GAAAGATTGATCGTTTGCAGT	0.294000													2	14					0	0	1	0	0
DNAJC4	3338	broad.mit.edu	37	11	63999401	63999401	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:63999401G>A	ENST00000321685.3	+	3	610	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_Missense_Mutation_p.E49K|DNAJC4_ENST00000321460.5_Missense_Mutation_p.E49K	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	49	J.				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						CAGCACTGAGGAAGTTAAACG	0.552000													27	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444520	179444520	+	Silent	SNP	A	A	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:179444520A>G	ENST00000589042.1	-	319	67628	c.67404T>C	c.(67402-67404)tgT>tgC	p.C22468C	TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000591111.1_Silent_p.C20827C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.C13595C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.C13528C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.C13403C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.C19900C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20827	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCAATGCTACAGGATGACT	0.413000													14	85					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18653345	18653345	+	Silent	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:18653345G>C	ENST00000308799.4	+	3	1200	c.981G>C	c.(979-981)ctG>ctC	p.L327L	FBXW10_ENST00000395665.4_Silent_p.L298L|FBXW10_ENST00000301938.4_Silent_p.L298L|FBXW10_ENST00000395667.1_Silent_p.L298L			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	298										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GACACACCCTGAACAAGTGCG	0.537000													37	67					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732088	144732088	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:144732088G>A	ENST00000501748.2	+	1	135	c.46G>A	c.(46-48)Gag>Aag	p.E16K	ZNF623_ENST00000526926.1_5'UTR|ZNF623_ENST00000458270.2_5'UTR	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGAACTGGTGAGAAGAAGGT	0.458000													21	68					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113697072	113697072	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:113697072G>T	ENST00000295878.3	-	16	2713	c.2567C>A	c.(2566-2568)tCt>tAt	p.S856Y		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	856										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTGCCCTGAGAATCGATCTT	0.408000													26	88					5.77227e-19	6.13876e-19	1	1	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	59					0	0	1	0	0
N4BP2L1	90634	broad.mit.edu	37	13	32981423	32981423	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr13:32981423G>A	ENST00000380130.2	-	3	455	c.360C>T	c.(358-360)aaC>aaT	p.N120N	N4BP2L1_ENST00000530622.2_Silent_p.N14N|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380139.4_Silent_p.N120N|N4BP2L1_ENST00000380133.2_Silent_p.N120N	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	120					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AGGCGTGGAGGTTGGTATTAT	0.398000													15	77					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432497	135432497	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:135432497C>T	ENST00000394143.1	+	6	6923	c.6632C>T	c.(6631-6633)cCa>cTa	p.P2211L	GPR112_ENST00000394141.1_Missense_Mutation_p.P2006L|GPR112_ENST00000412101.1_Missense_Mutation_p.P2006L|GPR112_ENST00000287534.4_Missense_Mutation_p.P2148L|GPR112_ENST00000370652.1_Missense_Mutation_p.P2211L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2211					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGTCTTCACCAATATCGTCC	0.448000													35	108					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48955544	48955544	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr13:48955544G>A	ENST00000267163.4	+	17	1798	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	554	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAACGATGTGAACATCGAAT	0.323000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			7	28					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52960272	52960272	+	Silent	SNP	C	C	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr13:52960272C>A	ENST00000258613.4	-	4	1249	c.1071G>T	c.(1069-1071)ggG>ggT	p.G357G	THSD1_ENST00000349258.4_Intron|THSD1_ENST00000544466.1_5'UTR	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	357	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGACACCATCCCCACATGTGG	0.527000													26	140					1.7367e-05	1.79013e-05	1	1	0
CHUK	1147	broad.mit.edu	37	10	101961844	101961844	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr10:101961844C>T	ENST00000370397.7	-	14	1656		c.e14+1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AATGATTTTACCTCAGCATAG	0.313000													20	43					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67260974	67260974	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:67260974C>G	ENST00000392676.3	-	24	3281	c.3217G>C	c.(3217-3219)Gat>Cat	p.D1073H	ABCA5_ENST00000588877.1_Missense_Mutation_p.D1073H|ABCA5_ENST00000392677.2_Missense_Mutation_p.D1074H			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1073					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AAGGGGATATCAACAACAGCT	0.294000													11	36					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86890598	86890598	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:86890598G>T	ENST00000373119.4	+	9	1893	c.1748G>T	c.(1747-1749)tGc>tTc	p.C583F	KLHL4_ENST00000373114.4_Missense_Mutation_p.C583F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	583						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGAAGTTCCTGCCTCAAATCA	0.393000													8	31					2.80697e-09	2.93855e-09	1	1	0
NXPH1	30010	broad.mit.edu	37	7	8791010	8791010	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:8791010G>C	ENST00000405863.1	+	3	1338	c.427G>C	c.(427-429)Gat>Cat	p.D143H	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D26H	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	143	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GAAAATTGTAGATCATGGCAA	0.388000													17	47					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563802	55563802	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:55563802C>G	ENST00000335605.1	+	1	771	c.771C>G	c.(769-771)atC>atG	p.I257M		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGGGACCATCCTTTTCCTTT	0.483000													19	68					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19062154	19062154	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:19062154C>T	ENST00000420770.2	+	8	1267	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	PAX7_ENST00000400661.3_Missense_Mutation_p.A393V|PAX7_ENST00000375375.3_Missense_Mutation_p.A395V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	395					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		AACCCCAGTGCGGTGCCCCCG	0.652000			T	FOXO1A	alveolar rhabdomyosarcoma								11	107					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219508100	219508100	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:219508100C>G	ENST00000411696.2	-	7	3918	c.3139G>C	c.(3139-3141)Gaa>Caa	p.E1047Q	ZNF142_ENST00000449707.1_Missense_Mutation_p.E1047Q			P52746	ZN142_HUMAN	zinc finger protein 142	1047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGCAGCCTTCAGCCACGTGA	0.612000													30	51					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49052436	49052436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:49052436G>A	ENST00000380950.2	-	19	2777	c.2590C>T	c.(2590-2592)Cag>Tag	p.Q864*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q864*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q771*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	864					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGCCATCGCTGATGAGCATTT	0.413000													25	81					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261982	125261982	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:125261982G>A	ENST00000431078.1	+	8	1537	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	391	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCTCTCAGTGAGTTTCCAGT	0.557000													6	81					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48544018	48544018	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:48544018G>C	ENST00000376701.4	+	3	431	c.356G>C	c.(355-357)gGa>gCa	p.G119A	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	119	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACCTTCGCTGGAGATGTAAGT	0.607000			"""Mis, N, F, S"""			lymphoma							5	18					0	0	1	0	0
RAB6C-AS1	100131320	broad.mit.edu	37	2	130725787	130725787	+	RNA	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:130725787G>A	ENST00000412425.1	-	0	831					NR_036537.1																						ACACAAAAAAGATGAGGATGA	0.428000													3	18					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24468356	24468356	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr22:24468356C>G	ENST00000398319.2	+	18	2913	c.2528C>G	c.(2527-2529)tCt>tGt	p.S843C	CABIN1_ENST00000405822.2_Missense_Mutation_p.S793C|CABIN1_ENST00000263119.5_Missense_Mutation_p.S843C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	843					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCACGTCTCTTCAGTGCTA	0.582000													22	64					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554443	28554443	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:28554443C>T	ENST00000452236.2	-	1	669	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	18					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCCCTTGTTCTTCTGGAGCC	0.502000													10	56					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15291056	15291056	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:15291056C>G	ENST00000263388.2	-	20	3229	c.3154G>C	c.(3154-3156)Gag>Cag	p.E1052Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1052	EGF-like 27.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACAGCTGCTCCAGCCGCACC	0.587000													10	41					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67786090	67786090	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:67786090G>T	ENST00000262345.1	+	2	679	c.39G>T	c.(37-39)atG>atT	p.M13I	IL12RB2_ENST00000544434.1_Missense_Mutation_p.M13I|IL12RB2_ENST00000371000.1_Missense_Mutation_p.M13I|IL12RB2_ENST00000541374.1_Missense_Mutation_p.M13I	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	13			M -> V (in dbSNP:rs17129772).		positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGGCATTTATGTTTATAATCA	0.338000													10	60					0.000673444	0.000683648	1	1	0
ELK1	2002	broad.mit.edu	37	X	47498684	47498684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:47498684G>T	ENST00000247161.3	-	3	363	c.264C>A	c.(262-264)taC>taA	p.Y88*	ELK1_ENST00000376983.3_Nonsense_Mutation_p.Y88*|ELK1_ENST00000343894.4_Nonsense_Mutation_p.Y88*|ELK1_ENST00000592066.1_Nonsense_Mutation_p.Y34*	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	88					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						CGACCTCAGGGTAGGACACAA	0.587000													8	27					0.00448238	0.00448238	1	1	0
MAN1C1	57134	broad.mit.edu	37	1	26104778	26104778	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:26104778G>A	ENST00000374332.4	+	9	1770	c.1440G>A	c.(1438-1440)caG>caA	p.Q480Q	MAN1C1_ENST00000263979.3_Silent_p.Q300Q|MAN1C1_ENST00000374329.1_Silent_p.Q251Q	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	480					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TCGCAGCCCAGATCACCAAGA	0.607000													26	65					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125561121	125561121	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:125561121C>T	ENST00000316519.6	+	3	528	c.322C>T	c.(322-324)Cac>Tac	p.H108Y	AACS_ENST00000261686.6_Missense_Mutation_p.H108Y	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	108					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCTCCTGCGGCACAAAGAGAA	0.498000													29	60					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8494819	8494819	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:8494819G>C	ENST00000447869.1	-	2	1148	c.230C>G	c.(229-231)tCa>tGa	p.S77*	STK33_ENST00000396673.1_Nonsense_Mutation_p.S77*|STK33_ENST00000315204.1_Nonsense_Mutation_p.S77*|STK33_ENST00000534493.1_Nonsense_Mutation_p.S36*|STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Nonsense_Mutation_p.S77*			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	77						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGAGGTTCTTGAGGGCTGGGA	0.338000													23	54					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128482013	128482013	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:128482013C>G	ENST00000322313.4	-	11	1248	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	364					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACTTCCTTCTCTACCCTGCAA	0.468000													15	70					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17912391	17912391	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:17912391G>A	ENST00000448223.2	-	7	766	c.497C>T	c.(496-498)aCg>aTg	p.T166M	SMC6_ENST00000381272.4_Missense_Mutation_p.T192M|SMC6_ENST00000402989.1_Missense_Mutation_p.T166M|SMC6_ENST00000351948.4_Missense_Mutation_p.T166M	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	166					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTTTCCTCGTGGAAACCAC	0.313000													5	65					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452246	100452246	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:100452246C>G	ENST00000279907.7	-	14	3021	c.2809G>C	c.(2809-2811)Gac>Cac	p.D937H	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D587H	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	937										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGGCTAAGGTCAACACTCATA	0.303000													4	45					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88016103	88016103	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:88016103C>G	ENST00000307808.6	+	7	1664	c.1244C>G	c.(1243-1245)tCt>tGt	p.S415C	AFF1_ENST00000544085.1_Missense_Mutation_p.S53C|AFF1_ENST00000395146.4_Missense_Mutation_p.S422C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	415						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CACTCAAATTCTCAGCAAGGA	0.338000													14	29					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123447	81123447	+	Silent	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:81123447C>T	ENST00000339711.4	+	10	2062	c.831C>T	c.(829-831)tgC>tgT	p.C277C	PRDM8_ENST00000415738.2_Silent_p.C277C|PRDM8_ENST00000504452.1_Silent_p.C277C	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	277	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCAGCAGCTGCTCCCCAGCCC	0.731000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	34					0	0	1	0	0
GAS8	2622	broad.mit.edu	37	16	90103716	90103716	+	Missense_Mutation	SNP	G	G	A	rs117053233	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:90103716G>A	ENST00000268699.4	+	7	955	c.833G>A	c.(832-834)cGc>cAc	p.R278H	GAS8_ENST00000536122.1_Missense_Mutation_p.R253H|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	278					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	p.R278L(1)|p.R278H(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CAGAACAAGCGCCTGGCAGAC	0.592000													3	29					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91306333	91306333	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:91306333G>C	ENST00000355112.3	+	8	2138	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q	BLM_ENST00000560509.1_Missense_Mutation_p.E674Q|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	674					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAATCAGCTAGAGGCGATCAA	0.378000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				31	94					0	0	1	0	0
RPL10A	4736	broad.mit.edu	37	6	35438014	35438014	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:35438014C>G	ENST00000322203.6	+	5	396	c.369C>G	c.(367-369)atC>atG	p.I123M	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	123					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						TTCCACGAATCCTCGGCCCAG	0.478000													7	54					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102572360	102572360	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:102572360C>G	ENST00000393772.2	-	9	1171	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.E249Q|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.E249Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.E249Q|FBXL13_ENST00000379305.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000379306.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000379308.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000313221.4_Missense_Mutation_p.E249Q			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	249										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ACATTCAACTCTTGCAAGTTC	0.353000													14	48					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50301453	50301453	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr22:50301453G>A	ENST00000330817.5	-	7	1181	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	303					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCAGGAGGGAGTAGAGTGC	0.607000													23	85					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145617301	145617301	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:145617301G>A	ENST00000308860.6	+	11	1150	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q		NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	369	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTTCTGGTGCGGAAAGGCCCG	0.662000													7	35					0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24505178	24505178	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:24505178G>A	ENST00000357578.3	+	4	836	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.E203K|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.E143K|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.E231K	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	231					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GAAGCCTGCCGAAGACACGCC	0.577000													38	109					0	0	1	0	0
BCAP31	10134	broad.mit.edu	37	X	152988622	152988622	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:152988622G>A	ENST00000458587.2	-	2	708	c.279C>T	c.(277-279)ttC>ttT	p.F93F	BCAP31_ENST00000441714.1_Silent_p.F26F|BCAP31_ENST00000345046.6_Silent_p.F26F	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	26					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGGAGAAATGAAGGGAATGC	0.552000													11	37					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277137	152277137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:152277137G>A	ENST00000368799.1	-	3	10260	c.10225C>T	c.(10225-10227)Cga>Tga	p.R3409*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3409	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCTTCGTCCAGTGCTG	0.607000									Ichthyosis				132	352					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75892796	75892796	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:75892796C>G	ENST00000322507.8	-	10	2170	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	COL12A1_ENST00000416123.2_Missense_Mutation_p.E621Q|COL12A1_ENST00000483888.2_Missense_Mutation_p.E621Q|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	621					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATTCTTGCTCAATTCTAAGG	0.368000													18	50					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715172	165715172	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:165715172G>A	ENST00000543069.1	-	2	908	c.327C>T	c.(325-327)gaC>gaT	p.D109D	C6orf118_ENST00000230301.8_Silent_p.D213D			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	213										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCTGTACCTGTCTGCGCTGG	0.617000													25	95					0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43481347	43481347	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:43481347G>C	ENST00000372422.2	-	4	602	c.420C>G	c.(418-420)atC>atG	p.I140M	YIPF3_ENST00000506469.1_Missense_Mutation_p.I146M	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	140					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACCATCTTGATAGGGATCA	0.562000													15	54					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34856261	34856261	+	Silent	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:34856261C>T	ENST00000415930.3	+	2	377	c.207C>T	c.(205-207)ttC>ttT	p.F69F	GPI_ENST00000356487.5_Silent_p.F30F|GPI_ENST00000586425.1_Silent_p.F30F	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	30					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GCCGCCTCTTCGATGCCAACA	0.716000													3	28					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445945	87445945	+	Silent	SNP	A	A	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:87445945A>G	ENST00000268616.4	-	12	2188	c.1971T>C	c.(1969-1971)tgT>tgC	p.C657C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	657					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CATTATTAGGACAGGAAGTTT	0.527000													33	153					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130501101	130501101	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr9:130501101C>T	ENST00000314830.8	-	12	2620	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	SH2D3C_ENST00000429553.1_Missense_Mutation_p.R482H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R679H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R678H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R768H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R676H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	836	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCTCATAGCGCCGGGCCTG	0.647000													4	9					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142268991	142268991	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:142268991G>T	ENST00000350721.4	-	14	3080	c.2959C>A	c.(2959-2961)Ctt>Att	p.L987I	ATR_ENST00000383101.3_Missense_Mutation_p.L923I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	987					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAACGATTAAGATCAGGAAAG	0.368000								Other conserved DNA damage response genes					11	52					6.40141e-05	6.54801e-05	1	1	0
FHL2	2274	broad.mit.edu	37	2	105979872	105979872	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:105979872G>A	ENST00000336660.5	-	4	503	c.383C>T	c.(382-384)tCg>tTg	p.S128L	FHL2_ENST00000393352.3_Silent_p.F186F|FHL2_ENST00000409177.1_Silent_p.F302F|FHL2_ENST00000409807.1_Silent_p.F186F|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000408995.1_Silent_p.F186F|FHL2_ENST00000358129.4_Silent_p.F186F|FHL2_ENST00000322142.8_Silent_p.F186F|FHL2_ENST00000393353.3_Silent_p.F186F|FHL2_ENST00000344213.4_Silent_p.F296F			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CGGTGCACACGAAGCACTCCT	0.607000													4	31					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40005666	40005666	+	Silent	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:40005666C>T	ENST00000350221.3	-	10	1376	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	389										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCATCATTTTCAGCTTTTCAT	0.368000													24	114					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38943578	38943578	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:38943578C>G	ENST00000355481.4	+	13	1495	c.1364C>G	c.(1363-1365)tCc>tGc	p.S455C	RYR1_ENST00000360985.3_Missense_Mutation_p.S455C|RYR1_ENST00000359596.3_Missense_Mutation_p.S455C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	455					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)	GAGCCTCCCTCCGAGGACTTG	0.672000													9	27					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193111	179193111	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr5:179193111C>G	ENST00000292599.3	+	2	1363	c.1100C>G	c.(1099-1101)tCa>tGa	p.S367*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	367					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGCCGGCATCAGCCCAGGCC	0.627000													16	57					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69711219	69711219	+	Silent	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:69711219C>T	ENST00000349945.1	+	11	2941	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	NFAT5_ENST00000567239.1_Silent_p.F557F|NFAT5_ENST00000566899.1_Silent_p.F463F|NFAT5_ENST00000393742.2_Silent_p.F463F|NFAT5_ENST00000354436.2_Silent_p.F539F|NFAT5_ENST00000432919.1_Silent_p.F557F	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	539					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCAACCATTCACTTACACTC	0.353000													8	67					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71789968	71789968	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:71789968C>G	ENST00000299980.4	-	12	1624	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q	AP1G1_ENST00000393512.3_Missense_Mutation_p.E398Q|AP1G1_ENST00000569748.1_Missense_Mutation_p.E395Q|AP1G1_ENST00000423132.2_Missense_Mutation_p.E398Q|AP1G1_ENST00000433195.2_Missense_Mutation_p.E418Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	395					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCTTTAAATTCTGGCTCACAC	0.373000													15	115					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200550364	200550364	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:200550364G>C	ENST00000367350.4	-	20	3738	c.3300C>G	c.(3298-3300)atC>atG	p.I1100M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1100	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTTGCTGCTGATAGCATTGG	0.328000													17	56					0	0	1	0	0
DUSP23	54935	broad.mit.edu	37	1	159752122	159752122	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:159752122G>A	ENST00000368107.1	+	2	545	c.447G>A	c.(445-447)acG>acA	p.T149T	DUSP23_ENST00000368109.1_Silent_p.T149T|DUSP23_ENST00000368108.3_Silent_p.T149T			Q9BVJ7	DUS23_HUMAN	dual specificity phosphatase 23	149						cytosol|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(1)	1	all_hematologic(112;0.0537)					ACCAGCGAACGAAATAAGGGG	0.532000													17	46					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475112	16475112	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:16475112C>T	ENST00000358432.5	-	3	738	c.584G>A	c.(583-585)cGt>cAt	p.R195H	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	195	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTAGTAGACACGGACGGAGAG	0.652000													11	135					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117678014	117678014	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:117678014G>C	ENST00000368508.3	-	25	4117	c.3919C>G	c.(3919-3921)Cac>Gac	p.H1307D	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.H1302D	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1307					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCAAGGTGTGACTGATAATA	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								13	61					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31734437	31734437	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:31734437C>G	ENST00000375686.3	-	14	2224	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R656T|VWA7_ENST00000375688.4_Missense_Mutation_p.E663Q	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	663						extracellular region											TCGGCACCCTCTGGGACCCCT	0.647000													15	83					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166159977	166159977	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:166159977G>A	ENST00000226725.6	+	4	566	c.307G>A	c.(307-309)Gat>Aat	p.D103N	KLHL2_ENST00000514860.1_Missense_Mutation_p.D107N|KLHL2_ENST00000538127.1_Missense_Mutation_p.D15N|KLHL2_ENST00000421009.2_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	103	BTB.				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAAAGAGGTAGATGGCTGGAC	0.403000													13	75					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35192847	35192847	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:35192847G>C	ENST00000156471.5	-	20	2444	c.2219C>G	c.(2218-2220)cCt>cGt	p.P740R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	740						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)		TTGTAGAGCAGGGTCTTCTAC	0.418000													11	52					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263296	140263296	+	Silent	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr5:140263296C>T	ENST00000289272.2	+	1	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D481D|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGGACGCGGACGCAC	0.662000													25	130					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60923726	60923726	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr14:60923726C>T	ENST00000321731.3	-	15	1426	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	423										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATAGGAATTTCAGACGTTCGT	0.373000													33	115					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69711109	69711109	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:69711109C>T	ENST00000349945.1	+	11	2831	c.1279C>T	c.(1279-1281)Cat>Tat	p.H427Y	NFAT5_ENST00000567239.1_Missense_Mutation_p.H521Y|NFAT5_ENST00000566899.1_Missense_Mutation_p.H427Y|NFAT5_ENST00000393742.2_Missense_Mutation_p.H427Y|NFAT5_ENST00000354436.2_Missense_Mutation_p.H503Y|NFAT5_ENST00000432919.1_Missense_Mutation_p.H521Y	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	503	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACATTAGAATCATCTTATTGT	0.313000													6	65					0	0	1	0	0
MRPS18A	55168	broad.mit.edu	37	6	43639527	43639527	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:43639527G>C	ENST00000372133.3	-	6	574	c.563C>G	c.(562-564)tCa>tGa	p.S188*	RSPH9_ENST00000372165.4_3'UTR|MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372163.4_3'UTR	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	188					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			AGGTGTTCTTGAGTAGCAGAC	0.587000													12	68					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266257	3266257	+	RNA	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:3266257C>G	ENST00000576468.1	+	0	418																											CTCCTGGCTTCCTATATGCAC	0.532000													15	32					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226349308	226349308	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:226349308C>T	ENST00000366812.5	-	4	706	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	218	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ctttcctcttcttctctccta	0.473000													8	42					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35261749	35261749	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:35261749G>C	ENST00000156471.5	-	1	291	c.66C>G	c.(64-66)ttC>ttG	p.F22L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	22						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)		CCTGGGTCACGAACTCCGCAT	0.587000											OREG0023038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	31					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732347	144732347	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:144732347G>A	ENST00000501748.2	+	1	394	c.305G>A	c.(304-306)aGa>aAa	p.R102K	ZNF623_ENST00000526926.1_Missense_Mutation_p.R62K|ZNF623_ENST00000458270.2_Missense_Mutation_p.R62K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGTCAGGAAGAAACCATATT	0.498000													28	100					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88584309	88584309	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:88584309G>A	ENST00000266712.6	+	12	1836	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	539						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AACCTGATCCGAGCAAATGAG	0.438000													17	56					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102167	168102167	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:168102167G>C	ENST00000409195.1	+	9	4354	c.4265G>C	c.(4264-4266)aGa>aCa	p.R1422T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1200T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1422T|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1247					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGACAAGTAGACAATTCTTT	0.328000													6	36					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45909312	45909312	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:45909312G>C	ENST00000185206.6	-	4	1007	c.855C>G	c.(853-855)atC>atG	p.I285M	CLIC5_ENST00000339561.6_Missense_Mutation_p.I126M|CLIC5_ENST00000544153.1_Missense_Mutation_p.I126M	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	285	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGGTATTTTTGATGTAGGCAG	0.502000													22	70					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	by1000genomes	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1																						CCAGCCTTCTGTAACCCAGTA	0.428000													4	45					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25500420	25500420	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:25500420A>T	ENST00000329474.6	+	17	1720	c.1352A>T	c.(1351-1353)aAt>aTt	p.N451I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	451					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTGGCTTGTAATCATAACTTG	0.428000													7	18					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158052	26158052	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:26158052G>C	ENST00000325250.1	+	2	1137	c.950G>C	c.(949-951)aGa>aCa	p.R317T		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	317							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ACCCAAGCCAGAGCTGCAGCC	0.517000													7	29					0	0	1	0	0
EMC2	9694	broad.mit.edu	37	8	109465348	109465348	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:109465348A>G	ENST00000220853.3	+	4	312	c.277A>G	c.(277-279)Aca>Gca	p.T93A		NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		CAAGCGATTAACAGGCATGAG	0.368000													8	36					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28634938	28634951	+	Frame_Shift_Del	DEL	CCAGCCCCTGGGCT	CCAGCCCCTGGGCT	-	rs112106981		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:28634938_28634951delCCAGCCCCTGGGCT	ENST00000264716.4	+	4	1467_1480	c.604_617delCCAGCCCCTGGGCT	c.(604-618)gfs	p.PAPGL202fs	FOSL2_ENST00000379619.1_Frame_Shift_Del_p.PAPGL194fs|FOSL2_ENST00000545753.1_Frame_Shift_Del_p.PAPGL163fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	202					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L206M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCGATCGCCCCCAGCCCCTGGGCTGCAGCCCATG	0.659													36	56	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	RNA	DEL	G	G	-			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393													3	3	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													4	6	---	---	---	---					
RP11-941H19.3	0	broad.mit.edu	37	8	81213789	81213794	+	RNA	DEL	CACACA	CACACA	-	rs71266069		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:81213789_81213794delCACACA	ENST00000522044.1	+	0	404																											CCCCCACCACcacacacacacacaca	0.544													3	4	---	---	---	---					
FRMD8	83786	broad.mit.edu	37	11	65156899	65156899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:65156899delG	ENST00000317568.5	+	3	316	c.153delG	c.(151-153)tcfs	p.S51fs	FRMD8_ENST00000416776.2_Frame_Shift_Del_p.S51fs|FRMD8_ENST00000355991.5_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	51	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ACCTGCCCTCGCTCAGTGCCC	0.652													31	95	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs141435934		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:66321927_66321928insA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.540													3	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577111	7577112	+	In_Frame_Ins	INS	-	-	CACAAA			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:7577111_7577112insCACAAA	ENST00000420246.2	-	8	958_959	c.826_827insTTTGTG	c.(826-828)ctg>TTTGTGctg	p.275_276insFV	TP53_ENST00000359597.4_In_Frame_Ins_p.275_276insFV|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Ins_p.275_276insFV|TP53_ENST00000269305.4_In_Frame_Ins_p.275_276insFV|TP53_ENST00000455263.2_In_Frame_Ins_p.275_276insFV	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A276P(15)|p.A276S(9)|p.0?(8)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.A276G(4)|p.A276fs*69(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCCAGGACAGGCACAAACACGC	0.545		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	37	---	---	---	---					
SPPL2B	56928	broad.mit.edu	37	19	2340499	2340499	+	RNA	DEL	G	G	-			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:2340499delG	ENST00000452401.2	+	0	916				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTGGCCTGGCTCTTAGGG	0.637													2	4	---	---	---	---					
