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
DDX49	54555	broad.mit.edu	37	19	19033467	19033467	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr19:19033467C>T	ENST00000438170.2	+	7	781	c.369C>T	c.(367-369)gtC>gtT	p.V123V	DDX49_ENST00000247003.4_Silent_p.V230V|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000599156.1_Intron			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	230	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CTGAGAAGGTCAAGGACGCCT	0.612000													14	24					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36033257	36033257	+	Silent	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr19:36033257G>C	ENST00000222286.4	+	5	602	c.486G>C	c.(484-486)ggG>ggC	p.G162G	AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000444728.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	162					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GGGCTGTCGGGAGCCCCTACG	0.622000													4	28					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224360	26224360	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr7:26224360C>T	ENST00000056233.3	+	4	1301	c.1042C>T	c.(1042-1044)Cat>Tat	p.H348Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	348					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.H348D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GTTAAATTCTCATACCACCAA	0.413000													20	44					0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34793951	34793951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr21:34793951C>T	ENST00000290219.6	+	3	1019	c.371C>T	c.(370-372)tCt>tTt	p.S124F	IFNGR2_ENST00000405436.1_Missense_Mutation_p.S45F|IFNGR2_ENST00000381995.1_Missense_Mutation_p.S143F	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	124	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GCACTCCATTCTGCCTGGGTG	0.488000													10	43					0	0	1	0	0
RPS9	6203	broad.mit.edu	37	19	54711337	54711337	+	Missense_Mutation	SNP	C	C	T	rs11544023		TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr19:54711337C>T	ENST00000302907.4	+	5	651	c.479C>T	c.(478-480)tCt>tTt	p.S160F	RPS9_ENST00000441429.1_3'UTR|RPS9_ENST00000391751.3_3'UTR|RPS9_ENST00000391753.2_Missense_Mutation_p.S160F|RPS9_ENST00000402367.1_3'UTR|RPS9_ENST00000391752.1_Missense_Mutation_p.S160F	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	160	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		ATCGACTTCTCTCTGCGCTCT	0.632000													13	26					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149494362	149494362	+	RNA	SNP	T	T	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr7:149494362T>C	ENST00000378016.2	+	0	6833							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCCCAGATTCCATTCCACA	0.652000													17	24					0	0	1	0	0
IGLV1-50	28821	broad.mit.edu	37	22	22681916	22681916	+	RNA	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr22:22681916C>T	ENST00000390291.2	+	0	149																											TCTGGGGCCCCAGGGCAGAGG	0.592000													14	85					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48244520	48244520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr19:48244520G>A	ENST00000263277.3	+	6	1714	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.R352H	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	488	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GTGCTGGGGCGCATCTGGAAG	0.642000													17	30					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619496	24619496	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr14:24619496G>C	ENST00000324103.6	+	7	1356	c.1036G>C	c.(1036-1038)Gaa>Caa	p.E346Q	RNF31_ENST00000559275.1_Missense_Mutation_p.E195Q|RNF31_ENST00000382687.3_Missense_Mutation_p.E195Q	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	346	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TGGAGGCCTAGAACCTGATCT	0.597000													13	33					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50852998	50852998	+	Silent	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr22:50852998G>A	ENST00000359139.3	+	5	826	c.432G>A	c.(430-432)aaG>aaA	p.K144K	PPP6R2_ENST00000395741.3_Silent_p.K144K|PPP6R2_ENST00000395744.3_Silent_p.K144K|PPP6R2_ENST00000216061.5_Silent_p.K144K	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	144						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGTTTTTGAAGAAGAAGGACA	0.562000													5	46					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51826899	51826899	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:51826899C>T	ENST00000371733.3	-	24	2584	c.2488G>A	c.(2488-2490)Gct>Act	p.A830T	EPS15_ENST00000371730.2_Missense_Mutation_p.A696T|EPS15_ENST00000396122.4_Missense_Mutation_p.A507T	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	830	Pro-rich.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GTGGTAGTAGCAGAAGTGAAT	0.408000			T	MLL	ALL								10	54					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089182	113089182	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:113089182C>G	ENST00000409871.1	+	12	3088	c.2687C>G	c.(2686-2688)tCt>tGt	p.S896C	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S896C	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	896							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GATCCAGTGTCTTCAATCAAT	0.398000													13	15					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41203612	41203612	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chrX:41203612G>C	ENST00000399959.2	+	10	1840	c.985G>C	c.(985-987)Gat>Cat	p.D329H	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.D313H	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	329	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ACGTCTAGTGGATATGATGGA	0.388000										HNSCC(61;0.18)			65	81					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241976303	241976303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:241976303C>G	ENST00000310397.8	+	5	902	c.902C>G	c.(901-903)tCg>tGg	p.S301W	SNED1_ENST00000405547.3_Missense_Mutation_p.S301W|SNED1_ENST00000342631.6_Missense_Mutation_p.S301W|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.S301W	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	301	EGF-like 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCCTGCCTCTCGGGCTTCACG	0.711000													8	15					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85972056	85972056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr10:85972056G>A	ENST00000372117.3	+	15	1778	c.1675G>A	c.(1675-1677)Gta>Ata	p.V559I	CDHR1_ENST00000440770.2_Missense_Mutation_p.V263I|CDHR1_ENST00000332904.3_Missense_Mutation_p.V559I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	559	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CAAGTACAGCGTAGCTGAGGT	0.542000													27	64					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111901575	111901575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr6:111901575G>A	ENST00000368761.5	-	3	1325	c.847C>T	c.(847-849)Cga>Tga	p.R283*	TRAF3IP2_ENST00000340026.6_Nonsense_Mutation_p.R292*|TRAF3IP2_ENST00000359831.4_Nonsense_Mutation_p.R283*|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	292					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TAGGCTGCTCGAGGGTAGTCA	0.547000													21	14					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262392	61262392	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr18:61262392C>A	ENST00000344731.5	+	7	847	c.745C>A	c.(745-747)Ccc>Acc	p.P249T	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	249					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGTGCTTCTGCCCAACGACAT	0.448000													19	113					8.28177e-16	9.03466e-16	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18747479	18747479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr12:18747479G>T	ENST00000433979.1	+	29	4056	c.3940G>T	c.(3940-3942)Gaa>Taa	p.E1314*	PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.E1314*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E1355*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1314				Missing (in Ref. 1; CAA03853).	cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACAAACAGTTGAAGAATCATC	0.284000													10	26					0.0581538	0.058529	1	1	0
PLCB4	5332	broad.mit.edu	37	20	9459585	9459585	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr20:9459585G>C	ENST00000378501.2	+	36	3529	c.3514G>C	c.(3514-3516)Gat>Cat	p.D1172H	PLCB4_ENST00000334005.3_Missense_Mutation_p.D1172H|PLCB4_ENST00000414679.2_Missense_Mutation_p.Q1171H|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.Q1159H|PLCB4_ENST00000378493.1_Missense_Mutation_p.Q1159H|PLCB4_ENST00000378473.3_Missense_Mutation_p.Q1171H	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	505					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGATGCAGCAGATGGTGAAAT	0.458000													8	21					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886119	30886119	+	Nonsense_Mutation	SNP	G	G	A	rs148376799	by1000genomes	TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr22:30886119G>A	ENST00000392772.2	-	12	1355	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A384V|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000255858.7_Missense_Mutation_p.A399V			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	0	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGGTCTCATCGCCTTGAGACT	0.607000													7	23					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			43	17					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61166361	61166361	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr18:61166361C>T	ENST00000382771.4	+	6	868	c.576C>T	c.(574-576)acC>acT	p.T192T	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	192					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AGACAGACACCAAACCAGTGC	0.363000													15	65					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86414187	86414187	+	Silent	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr9:86414187G>A	ENST00000376371.2	-	4	673	c.273C>T	c.(271-273)aaC>aaT	p.N91N	GKAP1_ENST00000376365.3_Silent_p.N91N	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	91					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CATGTTGAGCGTTACAAACAG	0.368000													4	91					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9199867	9199867	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:9199867G>C	ENST00000328194.3	-	8	2038	c.1718C>G	c.(1717-1719)tCa>tGa	p.S573*	DENND5A_ENST00000530044.1_Nonsense_Mutation_p.S573*	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	573	dDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGGAATCTTGAGAGGAAGGG	0.438000													12	40					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96775862	96775862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr14:96775862C>T	ENST00000359933.4	-	29	5124	c.4231G>A	c.(4231-4233)Gat>Aat	p.D1411N	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1411										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTCATCAGATCTCGTAACATT	0.443000													20	37					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199823	71199823	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr14:71199823C>T	ENST00000554752.2	-	11	2262	c.2263G>A	c.(2263-2265)Ggc>Agc	p.G755S	MAP3K9_ENST00000555993.2_Missense_Mutation_p.G769S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.G732S|MAP3K9_ENST00000554146.1_Missense_Mutation_p.G483S|MAP3K9_ENST00000553414.1_Missense_Mutation_p.G488S	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	755					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCCCACAGCCGAGCAGAGCC	0.672000													18	35					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220928441	220928441	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:220928441C>T	ENST00000366913.3	+	2	623	c.425C>T	c.(424-426)tCa>tTa	p.S142L	MARC2_ENST00000359316.2_Missense_Mutation_p.S142L	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	142						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CAGCCTTCCTCAAACAAACTC	0.517000													27	61					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163117164	163117164	+	Missense_Mutation	SNP	G	G	A	rs112323155		TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:163117164G>A	ENST00000313961.5	-	5	791	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	RGS5_ENST00000367903.3_Missense_Mutation_p.R192C|RGS5_ENST00000530507.1_Missense_Mutation_p.R176C|RGS5_ENST00000527988.1_Missense_Mutation_p.R64C	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	172	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			AACTCAGAGCGCACAAAGCGA	0.438000													4	48					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160210513	160210513	+	Translation_Start_Site	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr6:160210513G>C	ENST00000392168.2	-	0	222				TCP1_ENST00000544255.1_De_novo_Start_InFrame|TCP1_ENST00000546023.1_5'UTR|TCP1_ENST00000321394.7_De_novo_Start_InFrame|TCP1_ENST00000420894.2_De_novo_Start_InFrame	NM_001008897.1	NP_001008897.1	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGACGGCAGCGATACACGTCG	0.667000													9	5					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046559	17046559	+	RNA	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:17046559C>T	ENST00000492551.1	-	0	93					NR_026567.1																						GCGGTGGGATCCCCACCGCCA	0.607000													7	49					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40903791	40903791	+	Silent	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr19:40903791G>A	ENST00000324001.7	-	7	738	c.468C>T	c.(466-468)gtC>gtT	p.V156V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	156	Arg/Lys-rich (basic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGAGAACTCGACGTCAACAG	0.657000													5	9					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525904	176525904	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:176525904G>T	ENST00000367662.3	+	2	1610	c.446G>T	c.(445-447)gGc>gTc	p.G149V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G149V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	149					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTATCTCGGCAATCAAAGA	0.552000													10	92					1.58986e-06	1.6317e-06	1	1	0
RAB38	23682	broad.mit.edu	37	11	87908475	87908475	+	Missense_Mutation	SNP	G	G	C	rs61749248		TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:87908475G>C	ENST00000243662.6	-	1	160	c.78C>G	c.(76-78)atC>atG	p.I26M		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	26					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	p.I26I(1)|p.I26M(1)		large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CGTAGCGCTTGATGATACTGG	0.632000													8	42					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18323120	18323120	+	Silent	SNP	T	T	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chrX:18323120T>C	ENST00000251900.4	-	7	861	c.702A>G	c.(700-702)ggA>ggG	p.G234G		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	234					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GTAATACATCTCCTGTCAGGC	0.398000													9	157					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65351751	65351751	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:65351751G>C	ENST00000309295.4	+	10	3398	c.3133G>C	c.(3133-3135)Gag>Cag	p.E1045Q		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1045	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTCCCTGCTGGAGTGGTGCCA	0.607000													23	65					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25256983	25256983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr12:25256983C>A	ENST00000354454.3	+	18	1866	c.1037C>A	c.(1036-1038)tCa>tAa	p.S346*	LRMP_ENST00000548766.1_Nonsense_Mutation_p.S346*|LRMP_ENST00000547044.1_Nonsense_Mutation_p.S346*	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	402					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AGTAGAAGGTCAAGCAGTTGG	0.318000													9	40					0.000442599	0.000448347	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126790287	126790287	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr5:126790287G>A	ENST00000274473.6	+	24	3277	c.3010G>A	c.(3010-3012)Gga>Aga	p.G1004R	MEGF10_ENST00000503335.2_Missense_Mutation_p.G1004R|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1004	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AAGCTATATGGGAAAATCCTT	0.323000													11	12					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56667890	56667890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr3:56667890G>A	ENST00000493960.2	-	18	2939	c.2929C>T	c.(2929-2931)Cca>Tca	p.P977S	FAM208A_ENST00000355628.5_Intron|FAM208A_ENST00000431842.2_Intron	NM_001112736.1	NP_001106207.1	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	977										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GGAGAGGATGGAAACTGGTAA	0.517000													4	2					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	33003045	33003045	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:33003045G>A	ENST00000317907.4	+	14	2008	c.1777G>A	c.(1777-1779)Gat>Aat	p.D593N		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	593							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCTAGAACCCGATGTAAGTTT	0.448000													13	24					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210558492	210558492	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:210558492T>G	ENST00000360351.4	+	7	2104	c.1598T>G	c.(1597-1599)aTt>aGt	p.I533S	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I529S|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	533					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGAGCTCAATTCAGGAACTT	0.393000													27	40					0	0	1	0	0
RP9	6100	broad.mit.edu	37	7	33135012	33135012	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr7:33135012G>C	ENST00000297157.3	-	6	517	c.500C>G	c.(499-501)tCt>tGt	p.S167C		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	167					RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATCTGAGGTAGAATCCTCCAG	0.343000													16	42					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295002	29295002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:29295002C>G	ENST00000331664.5	-	1	2125	c.2126G>C	c.(2125-2127)gGa>gCa	p.G709A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	709					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGACCTCTCCTGATGGGAT	0.512000													46	58					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437211	44437211	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:44437211G>A	ENST00000255108.3	+	4	809	c.637G>A	c.(637-639)Gag>Aag	p.E213K	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_Missense_Mutation_p.E78K	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	213					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCGTCTAGAAGAGTATGGTGC	0.622000													14	40					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86259451	86259451	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:86259451C>G	ENST00000263857.6	-	29	4594	c.4216G>C	c.(4216-4218)Gag>Cag	p.E1406Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1406Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1406					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCCCCCTCCTCAGCTTCAGCA	0.567000													18	56					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68024022	68024022	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr14:68024022C>G	ENST00000329153.5	+	4	358	c.226C>G	c.(226-228)Ctg>Gtg	p.L76V		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	76						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACTATCCAATCTGAAGAATGT	0.483000													9	8					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962748	94962748	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr14:94962748C>T	ENST00000341228.2	-	4	1662	c.867G>A	c.(865-867)gtG>gtA	p.V289V	SERPINA12_ENST00000556881.1_Silent_p.V289V	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	289					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AGAAAGTGTCCACCTGCAATC	0.478000													18	67					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39888514	39888514	+	Missense_Mutation	SNP	A	A	G	rs145508527		TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:39888514A>G	ENST00000564288.1	+	60	16868	c.16091A>G	c.(16090-16092)aAt>aGt	p.N5364S	MACF1_ENST00000372915.3_Missense_Mutation_p.N5369S|MACF1_ENST00000567887.1_Missense_Mutation_p.N5401S|MACF1_ENST00000539005.1_Missense_Mutation_p.N3281S|MACF1_ENST00000289893.4_Missense_Mutation_p.N3804S|MACF1_ENST00000361689.2_Missense_Mutation_p.N3302S|MACF1_ENST00000545844.1_Missense_Mutation_p.N3302S|MACF1_ENST00000317713.7_Missense_Mutation_p.N3302S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5369					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCATAGCCAATCAGAAACCT	0.473000													8	19					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811229	23811229	+	Silent	SNP	C	C	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr15:23811229C>A	ENST00000314520.3	+	1	776	c.300C>A	c.(298-300)atC>atA	p.I100I	MKRN3_ENST00000564592.1_Silent_p.I100I|MKRN3_ENST00000568252.1_Silent_p.I100I	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	100						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGCAGATCATCTGCAGGTATT	0.597000													30	33					1.75199e-13	1.87198e-13	1	1	0
FSHR	2492	broad.mit.edu	37	2	49190117	49190117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:49190117G>A	ENST00000406846.2	-	10	1962	c.1843C>T	c.(1843-1845)Cac>Tac	p.H615Y	FSHR_ENST00000541117.1_Missense_Mutation_p.H351Y|FSHR_ENST00000304421.4_Missense_Mutation_p.H589Y|FSHR_ENST00000346173.3_Missense_Mutation_p.H553Y	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	615					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTGATGGGGTGAAACAGAACC	0.483000									Gonadal Dysgenesis, 46 XX				11	35					0	0	1	0	0
MFSD3	113655	broad.mit.edu	37	8	145736023	145736023	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr8:145736023C>T	ENST00000301327.4	+	3	1133	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	291	Leu-rich.				transmembrane transport	integral to membrane		p.L291L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTTCCGCCTCGGGGGCCTAG	0.617000													33	71					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265124	67265124	+	Silent	SNP	A	A	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:67265124A>G	ENST00000356404.3	-	13	2034	c.1809T>C	c.(1807-1809)ttT>ttC	p.F603F	PITPNM1_ENST00000534749.1_Silent_p.F603F|PITPNM1_ENST00000436757.2_Silent_p.F603F	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	603					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCACTGGGCCAAACTCCGGAG	0.592000													27	26					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202580523	202580523	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:202580523C>T	ENST00000264276.6	-	25	4248	c.3876G>A	c.(3874-3876)aaG>aaA	p.K1292K	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1292					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCGCTTTCCACTTCTCATCAG	0.458000													76	153					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220437	146220437	+	RNA	SNP	G	G	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr8:146220437G>T	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						ACTAGTGACTGGCACATACGA	0.522000													8	13					5.4927e-09	5.71241e-09	1	1	0
FBXW2	26190	broad.mit.edu	37	9	123550458	123550458	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr9:123550458C>T	ENST00000608872.1	-	3	266	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	FBXW2_ENST00000340778.5_Missense_Mutation_p.E27K	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TCCAGAGTTTCATTTTTCTGC	0.433000													21	37					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047114	42047114	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:42047114C>T	ENST00000372584.1	-	3	4369	c.3355G>A	c.(3355-3357)Gaa>Aaa	p.E1119K	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E1119K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E1119K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E1119K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1119					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCAGTGCTTCTGTGTAGGGC	0.632000													12	27					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71189298	71189298	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr17:71189298C>T	ENST00000299886.4	+	1	170	c.90C>T	c.(88-90)atC>atT	p.I30I	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	30					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CGGAGGAGATCCGCGGGCTGG	0.682000													3	3					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65417643	65417643	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chrX:65417643C>G	ENST00000519389.1	+	10	1961	c.1782C>G	c.(1780-1782)ttC>ttG	p.F594L	HEPH_ENST00000343002.2_Missense_Mutation_p.F540L|HEPH_ENST00000336279.5_Missense_Mutation_p.F273L|HEPH_ENST00000441993.2_Missense_Mutation_p.F543L|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.F543L			Q9BQS7	HEPH_HUMAN	hephaestin	540	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGATGTACTTCTCTGCTGCAG	0.562000													10	24					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594745	140594745	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr5:140594745G>A	ENST00000341948.4	+	1	1237	c.1050G>A	c.(1048-1050)atG>atA	p.M350I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		350					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTTACCATGTCTGCATTTA	0.428000													70	48					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36594953	36594953	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:36594953C>T	ENST00000299440.5	+	2	211	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	33	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTAAGCTGTTCCGGGTGAGAT	0.473000									Familial Hemophagocytic Lymphohistiocytosis				15	40					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821423	206821423	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:206821423G>A	ENST00000367106.1	+	4	1293	c.820G>A	c.(820-822)Gac>Aac	p.D274N	DYRK3_ENST00000367109.2_Missense_Mutation_p.D294N|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.D274N			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	294	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCTGAGCATAGACCTTTATGA	0.413000													35	84					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165952089	165952089	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:165952089C>T	ENST00000360093.3	-	25	4854	c.4363G>A	c.(4363-4365)Ggg>Agg	p.G1455R	SCN3A_ENST00000409101.3_Missense_Mutation_p.G1406R|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1455R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1455						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAGAATGACCCAAAGATGATA	0.284000													22	59					0	0	1	0	0
AHCYL2	23382	broad.mit.edu	37	7	129040161	129040161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr7:129040161C>T	ENST00000325006.3	+	6	908	c.854C>T	c.(853-855)tCa>tTa	p.S285L	AHCYL2_ENST00000446544.2_Missense_Mutation_p.S284L|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S204L|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S182L|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S183L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S182L	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	285					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						AAGGGAGAGTCAGAAGATGAC	0.443000													20	30					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588271	118588271	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr6:118588271C>T	ENST00000360388.4	+	4	792	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	197					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGGGAATGGGCTGCATGGTGG	0.547000													52	65					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41005642	41005642	+	Silent	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr5:41005642G>A	ENST00000399564.4	-	35	4305	c.3855C>T	c.(3853-3855)ttC>ttT	p.F1285F	MROH2B_ENST00000506092.2_Silent_p.F840F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCTCAGAGAAGAAAGCTGCGC	0.552000													4	5					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83031956	83031956	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr7:83031956G>A	ENST00000307792.3	-	10	1602	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.P319S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	379	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACAGAACCAGGCCTTGGATAA	0.363000													9	50					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409417	30409417	+	Missense_Mutation	SNP	G	G	C	rs145100383	byFrequency	TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr16:30409417G>C	ENST00000320159.2	+	2	1222	c.846G>C	c.(844-846)aaG>aaC	p.K282N		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						ATTGCGGCAAGAGGTTTGTGC	0.612000													18	24					0	0	1	0	0
PDHX	8050	broad.mit.edu	37	11	34938320	34938320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:34938320G>A	ENST00000227868.4	+	1	202	c.118G>A	c.(118-120)Gga>Aga	p.G40R	PDHX_ENST00000448838.3_Intron|PDHX_ENST00000430469.2_Missense_Mutation_p.G40R			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	40					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TGTAAGCCGCGGAGCTAATTG	0.637000													3	9					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180734	19180734	+	Silent	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:19180734G>A	ENST00000375371.3	-	3	1251	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	410					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCTCTTGGTGCAGGTGCTTT	0.627000													3	15					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187518321	187518321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr4:187518321G>A	ENST00000441802.2	-	25	12582	c.12373C>T	c.(12373-12375)Cag>Tag	p.Q4125*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4125	EGF-like 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATATCACTCTGACACCTGCCA	0.542000										HNSCC(5;0.00058)			3	5					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4855234	4855234	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr20:4855234G>C	ENST00000379333.1	-	10	1325	c.933C>G	c.(931-933)ttC>ttG	p.F311L	SLC23A2_ENST00000338244.1_Missense_Mutation_p.F311L|SLC23A2_ENST00000424750.2_Missense_Mutation_p.F197L|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	311					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGAACATTTTGAACAGCTGTA	0.403000													34	66					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78443582	78443582	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:78443582G>A	ENST00000278550.7	-	21	3379	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CGCTCGAACCGCAGGATGATG	0.547000													9	13					0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16020070	16020070	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr4:16020070C>G	ENST00000505450.1	-	8	1463	c.851G>C	c.(850-852)aGc>aCc	p.S284T	PROM1_ENST00000510224.1_Missense_Mutation_p.S293T|PROM1_ENST00000508167.1_Missense_Mutation_p.S284T|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000447510.2_Missense_Mutation_p.S293T|PROM1_ENST00000539194.1_Missense_Mutation_p.S293T|PROM1_ENST00000540805.1_Missense_Mutation_p.S293T|PROM1_ENST00000543373.1_Missense_Mutation_p.S284T	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	293				S -> D (in Ref. 1; AA sequence).	camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTTTTCACGCTGGTCAGACT	0.498000													8	9					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37125461	37125461	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr5:37125461C>A	ENST00000274258.7	-	46	8962	c.5375G>T	c.(5374-5376)aGa>aTa	p.R1792I	C5orf42_ENST00000425232.2_Missense_Mutation_p.R2894I|C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000508244.1_Missense_Mutation_p.R2894I			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2894										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGAATCTCTCTTCTTTCCTT	0.358000													30	98					3.65163e-15	3.95593e-15	1	1	0
SPTBN1	6711	broad.mit.edu	37	2	54857114	54857114	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:54857114G>C	ENST00000333896.5	+	14	3101	c.2716G>C	c.(2716-2718)Ggc>Cgc	p.G906R	SPTBN1_ENST00000356805.4_Missense_Mutation_p.G919R	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	919					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GATGCACAGCGGCCACCCAAG	0.547000													8	18					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779514	205779514	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:205779514G>A	ENST00000367137.3	-	2	1070	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	19						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GGGAGAGGCAGAAGGGCCAGT	0.597000											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	53					0	0	1	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26199793	26199793	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr6:26199793G>A	ENST00000359985.1	+	1	46	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	3					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				TATCATGCCTGAACCTGCTAA	0.488000													16	33					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67197703	67197703	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr17:67197703C>T	ENST00000269081.4	-	11	2022	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	ABCA10_ENST00000416101.2_Silent_p.E371E|ABCA10_ENST00000432313.2_Silent_p.E371E	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	371					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CAGAGGAATGCTCAGGATTTA	0.358000													27	53					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204000762	204000762	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:204000762C>T	ENST00000449802.1	+	27	4422	c.4089C>T	c.(4087-4089)ttC>ttT	p.F1363F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1363							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAGAGGAATTCTGGCATAGTA	0.413000													15	30					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480753	59480753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:59480753G>A	ENST00000307552.2	-	1	584	c.566C>T	c.(565-567)gCt>gTt	p.A189V		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GTCTGCACAAGCCAGGCGCAT	0.478000													6	32					0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149786858	149786858	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr5:149786858C>T	ENST00000353334.6	-	2	334	c.155G>A	c.(154-156)gGc>gAc	p.G52D	CD74_ENST00000524315.1_Missense_Mutation_p.G52D|CD74_ENST00000377795.3_Missense_Mutation_p.G52D|CD74_ENST00000009530.7_Missense_Mutation_p.G52D	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	52					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGGAAAAGCCTGTGTACAG	0.627000			T	ROS1	NSCLC								2	2					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584598	138584598	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr6:138584598C>G	ENST00000251691.4	+	12	2144	c.1978C>G	c.(1978-1980)Cta>Gta	p.L660V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	660	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGCCCTGTCTCTAAAACTGCT	0.597000													20	17					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131745801	131745801	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr9:131745801C>G	ENST00000372577.2	+	19	1954	c.1933C>G	c.(1933-1935)Cct>Gct	p.P645A		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	645					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGTGGCCCATCCTGTCTCCAG	0.478000													20	19					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591738	60591738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr14:60591738C>T	ENST00000406854.1	+	9	3403	c.2849C>T	c.(2848-2850)tCa>tTa	p.S950L	PCNXL4_ENST00000406949.1_Missense_Mutation_p.S716L|PCNXL4_ENST00000535349.1_Missense_Mutation_p.S157L|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S950L|PCNXL4_ENST00000317623.4_Missense_Mutation_p.S716L					pecanex-like 4 (Drosophila)																		TGTTATCATTCAGAAGAGAAG	0.358000													19	28					0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12980270	12980270	+	Silent	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr12:12980270G>C	ENST00000358007.3	+	11	1219	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	DDX47_ENST00000352940.4_Silent_p.L350L	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	399						nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTATGATGCTGACAGAACGCG	0.453000													38	78					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186038811	186038811	+	Silent	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:186038811G>A	ENST00000271588.4	+	51	8125	c.7896G>A	c.(7894-7896)caG>caA	p.Q2632Q	HMCN1_ENST00000367492.2_Silent_p.Q2632Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2632	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAACTCTGCAGATCCTCAATG	0.448000													4	10					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18541309	18541309	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr8:18541309G>C	ENST00000428502.2	-	1	300	c.134C>G	c.(133-135)tCa>tGa	p.S45*	PSD3_ENST00000523619.1_Intron|PSD3_ENST00000327040.8_Intron|PSD3_ENST00000286485.8_Intron|PSD3_ENST00000440756.2_Intron			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	717					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGAAAACTCTGAGGAGTTGGA	0.473000													31	69					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52511967	52511967	+	Silent	SNP	T	T	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr15:52511967T>A	ENST00000261839.7	-	31	3935	c.3774A>T	c.(3772-3774)ggA>ggT	p.G1258G		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1258						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCTTTGTGTTCCTTCCTCCT	0.388000													23	34					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			18	17					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803554	137803554	+	Silent	SNP	C	C	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr5:137803554C>A	ENST00000239938.4	+	2	1688	c.1416C>A	c.(1414-1416)acC>acA	p.T472T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	472					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ctgtgcccacctccttctcct	0.632000													3	29					0.115264	0.115264	1	1	0
CDH1	999	broad.mit.edu	37	16	68855960	68855960	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr16:68855960G>A	ENST00000261769.5	+	12	1959	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N	CDH1_ENST00000422392.2_Missense_Mutation_p.D529N|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	590	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGATGTGAATGACAACGCCCC	0.453000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				36	65					0	0	1	0	0
SURF6	6838	broad.mit.edu	37	9	136199549	136199549	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr9:136199549C>T	ENST00000372022.4	-	4	706	c.441G>A	c.(439-441)cgG>cgA	p.R147R	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	147						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CCTGCTTTCTCCGCCGCCTTT	0.632000													45	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434829	179434829	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:179434829G>A	ENST00000589042.1	-	326	76254	c.76030C>T	c.(76030-76032)Cgg>Tgg	p.R25344W	TTN_ENST00000342992.6_Missense_Mutation_p.R22776W|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16404W|TTN_ENST00000460472.2_Missense_Mutation_p.R16279W|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16471W|TTN_ENST00000591111.1_Missense_Mutation_p.R23703W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23703	Fibronectin type-III 84.						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)			TCTTTATCCCGTTTCTCAAGA	0.423000													23	40					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6730396	6730396	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr19:6730396C>A	ENST00000264080.7	-	18	1586		c.e18-1		GPR108_ENST00000598626.1_Splice_Site|GPR108_ENST00000430424.4_Splice_Site	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108							integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GTCCGTCATTCTGGGGGCAGA	0.622000													16	25					9.16793e-09	9.4715e-09	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40864899	40864899	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr20:40864899C>A	ENST00000373198.4	-	16	2605		c.e16-1		PTPRT_ENST00000356100.2_Intron|PTPRT_ENST00000373201.1_Intron|PTPRT_ENST00000373187.1_Splice_Site|PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373184.1_Intron|PTPRT_ENST00000373193.3_Splice_Site	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.?(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGCATTTCTTCTATATATTGA	0.368000													19	49					7.45023e-12	7.85294e-12	1	1	0
EHBP1L1	254102	broad.mit.edu	37	11	65350286	65350286	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:65350286G>A	ENST00000309295.4	+	9	2408	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	715	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCAGAGTCAGAGGCTGAGGG	0.493000													12	35					0	0	1	0	0
UBL4A	8266	broad.mit.edu	37	X	153714159	153714159	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chrX:153714159C>T	ENST00000369660.4	-	3	399	c.314G>A	c.(313-315)cGc>cAc	p.R105H	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Missense_Mutation_p.R105H	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	105					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTGAAGTGGCGGGCCAAGAC	0.627000													4	120					0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87563542	87563542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:87563542G>A	ENST00000370550.5	+	5	973	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	HS2ST1_ENST00000370551.4_Missense_Mutation_p.E204K|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.E178K|HS2ST1_ENST00000356813.4_Missense_Mutation_p.E178K	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	204						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ATGTGTAGCAGAAGGTGGCTC	0.448000													3	35					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42854096	42854096	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr12:42854096G>C	ENST00000455697.1	-	8	2296	c.2011C>G	c.(2011-2013)Cat>Gat	p.H671D	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.H671D|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.H671D|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.H671D|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.H671D	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	671	Arg/His-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CGGTGGTGATGAGACCTGGAT	0.507000													22	34					0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175913420	175913420	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr5:175913420C>T	ENST00000261942.6	+	3	250	c.197C>T	c.(196-198)tCa>tTa	p.S66L	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	66					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CCACCTCCATCACGACCCCTG	0.498000													26	19					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924650	188924650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr4:188924650C>T	ENST00000326866.4	+	4	1097	c.689C>T	c.(688-690)tCa>tTa	p.S230L	ZFP42_ENST00000509524.1_Missense_Mutation_p.S230L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	230					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S230L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GTTGAGAGCTCAAAACTAAAG	0.493000													16	21					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			43	26					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10476481	10476481	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr19:10476481G>T	ENST00000525621.1	-	7	1204	c.723C>A	c.(721-723)ttC>ttA	p.F241L	TYK2_ENST00000529370.1_Missense_Mutation_p.F241L|TYK2_ENST00000264818.6_Missense_Mutation_p.F241L|TYK2_ENST00000524462.1_Missense_Mutation_p.F56L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	241	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGTCCCGCAGGAACCTGCGGA	0.667000													8	6					0.000157383	0.000160469	1	1	0
RNF141	50862	broad.mit.edu	37	11	10555684	10555684	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:10555684G>C	ENST00000265981.2	-	2	164	c.22C>G	c.(22-24)Cag>Gag	p.Q8E	RNF141_ENST00000528665.1_Missense_Mutation_p.Q8E	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	8							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		AACTGTGTCTGATCCGAAATT	0.358000													25	85					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584948	82584948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr7:82584948G>A	ENST00000333891.9	-	5	5658	c.5321C>T	c.(5320-5322)tCa>tTa	p.S1774L	PCLO_ENST00000423517.2_Missense_Mutation_p.S1774L	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S1774L(2)|p.S1705L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTCCTCTGAAGAATCTTC	0.413000													29	57					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135278023	135278023	+	Silent	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr9:135278023G>A	ENST00000334270.2	-	2	225	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	62	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GAGAAGAAATGAGATGCTGGA	0.388000													31	63					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	53667325	53667325	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr10:53667325G>A	ENST00000373980.4	+	5	1174	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PRKG1_ENST00000401604.2_Missense_Mutation_p.E238K|PRKG1_ENST00000373985.1_Missense_Mutation_p.E226K	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	238					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TGATGTCCTTGAAGAGGTAAT	0.443000													24	54					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	418572	418572	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:418572G>C	ENST00000332826.6	-	23	2232	c.2148C>G	c.(2146-2148)atC>atG	p.I716M		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	716						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CGATGAGCTTGATGCACAAGG	0.617000													19	36					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227967885	227967885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:227967885C>T	ENST00000396625.3	-	14	1052	c.845G>A	c.(844-846)gGa>gAa	p.G282E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G282E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	282	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTGGCAGTCCAACCATTCC	0.313000													22	45					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50278989	50278989	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr22:50278989C>T	ENST00000216268.5	+	2	2156	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		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)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGCAAAAAGACCTCGAAGCTG	0.463000													26	28					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640383	57640383	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr19:57640383G>T	ENST00000254181.4	+	4	794	c.340G>T	c.(340-342)Gat>Tat	p.D114Y	USP29_ENST00000598197.1_Missense_Mutation_p.D114Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	114					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATGAAATCTGATGATGATTG	0.358000													16	43					4.7546e-09	4.97797e-09	1	1	0
ZNF630	57232	broad.mit.edu	37	X	47920265	47920265	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chrX:47920265C>G	ENST00000442455.3	-	3	376	c.33G>C	c.(31-33)ttG>ttC	p.L11F	ZNF630_ENST00000276054.4_5'UTR|ZNF630_ENST00000409324.3_Missense_Mutation_p.L25F|ZNF630-AS1_ENST00000436124.1_RNA	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN	zinc finger protein 630	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GAGCAGGATTCAACTGCTGCC	0.493000													10	14					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11720899	11720899	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:11720899C>T	ENST00000381486.2	+	7	1142	c.842C>T	c.(841-843)cCg>cTg	p.P281L	GREB1_ENST00000389825.3_Missense_Mutation_p.P171L|GREB1_ENST00000381483.2_Missense_Mutation_p.P281L|GREB1_ENST00000263834.5_Missense_Mutation_p.P281L|GREB1_ENST00000234142.5_Missense_Mutation_p.P281L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	281						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAAGATTCCCCGAAGTGCCAA	0.547000													5	70					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058017	9058017	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr19:9058017G>C	ENST00000397910.4	-	3	29632	c.29429C>G	c.(29428-29430)tCa>tGa	p.S9810*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9812	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGCTGTGTTTGAGGAAGGATG	0.448000													24	24					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52511968	52511968	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr15:52511968C>T	ENST00000261839.7	-	31	3934	c.3773G>A	c.(3772-3774)gGa>gAa	p.G1258E		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1258						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTTTGTGTTCCTTCCTCCTC	0.383000													22	36					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516742	192516742	+	Silent	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr3:192516742G>A	ENST00000392452.2	-	2	1229	c.909C>T	c.(907-909)tcC>tcT	p.S303S		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	303										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TGAGGCTGCTGGAGATGCACT	0.542000													38	26					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154209611	154209611	+	Splice_Site	SNP	G	G	A	rs2274992	by1000genomes	TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:154209611G>A	ENST00000428931.1	+	8	869	c.702G>A	c.(700-702)acG>acA	p.T234T	UBAP2L_ENST00000271877.7_Splice_Site_p.T245T|UBAP2L_ENST00000343815.6_Splice_Site_p.T234T|UBAP2L_ENST00000361546.2_Splice_Site_p.T234T	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	234					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGATGGGACGAGTGAGTGAC	0.403000													8	20					0	0	1	0	0
RNF2	6045	broad.mit.edu	37	1	185067380	185067380	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:185067380T>A	ENST00000367510.3	+	5	929	c.641T>A	c.(640-642)aTg>aAg	p.M214K	RNF2_ENST00000367509.4_Missense_Mutation_p.M142K	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	214					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AATGCAGCAATGGCAATTGAT	0.423000													19	57					0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33404102	33404102	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:33404102C>G	ENST00000356990.5	-	8	1637	c.1638G>C	c.(1636-1638)aaG>aaC	p.K546N	RNF19B_ENST00000235150.4_Missense_Mutation_p.K546N|RNF19B_ENST00000373456.7_Missense_Mutation_p.K547N	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	547						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGAAAATTTCCTTTTGGACAT	0.473000													20	56					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17080665	17080665	+	Silent	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr17:17080665C>G	ENST00000395811.5	+	21	2987	c.2898C>G	c.(2896-2898)ctC>ctG	p.L966L	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Silent_p.L928L|MPRIP_ENST00000341712.4_Silent_p.L966L|MPRIP_ENST00000395804.3_Silent_p.L966L	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	966						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGGAGCAGCTCAAGGCTGCAA	0.557000													13	10					0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286721	11286721	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr12:11286721G>C	ENST00000539585.1	-	1	522	c.123C>G	c.(121-123)atC>atG	p.I41M	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CAACAAAGGAGATCTTTTGTC	0.383000													23	40					0	0	1	0	0
VGF	7425	broad.mit.edu	37	7	100807886	100807886	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr7:100807886C>T	ENST00000249330.2	-	2	478	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	VGF_ENST00000445482.2_Missense_Mutation_p.R80Q	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	80					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCCAGCGCCCGGGGATCCAC	0.711000													8	5					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646790	57646790	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr19:57646790T>G	ENST00000269834.1	-	5	1300	c.915A>C	c.(913-915)aaA>aaC	p.K305N		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGAAAGGGTTTTTGTCCAG	0.388000													36	89					0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	229440	229440	+	Silent	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chrX:229440G>A	ENST00000326153.4	-	2	221	c.222C>T	c.(220-222)acC>acT	p.T74T				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	303						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACCGCAGTTGGTGTACCCCA	0.692000													14	20					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123550531	123550531	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr9:123550531C>G	ENST00000608872.1	-	3	193	c.6G>C	c.(4-6)gaG>gaC	p.E2D	FBXW2_ENST00000340778.5_Missense_Mutation_p.E2D	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AGTCCTTTCTCTCCATAAGGT	0.358000													23	31					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210522376	210522376	+	Silent	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:210522376C>T	ENST00000367010.1	+	2	284	c.57C>T	c.(55-57)ttC>ttT	p.F19F	HHAT_ENST00000537898.1_Silent_p.F19F|HHAT_ENST00000541565.1_Silent_p.F19F|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000261458.3_Silent_p.F19F|HHAT_ENST00000413764.2_Silent_p.F19F|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000391905.3_Silent_p.F19F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	19					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCTTCCACTTCTATTCCTTCT	0.493000													15	37					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9877115	9877115	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr3:9877115G>C	ENST00000547186.1	+	13	2477	c.2261G>C	c.(2260-2262)gGa>gCa	p.G754A	TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.G897A	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	754					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ATTGCTGTTGGAGGGTCAAGA	0.572000													33	32					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134680353	134680353	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chrX:134680353G>A	ENST00000370752.4	+	4	722	c.388G>A	c.(388-390)Gat>Aat	p.D130N	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	130	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TACCATCACAGATGGAAACAA	0.289000													19	37					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013640	6013640	+	Silent	SNP	C	C	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr9:6013640C>A	ENST00000259569.5	-	1	1978	c.1968G>T	c.(1966-1968)gtG>gtT	p.V656V	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	656					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCATATTTTCCACATCCTGTG	0.403000													42	28					3.09479e-21	3.39991e-21	1	1	0
PTPRB	5787	broad.mit.edu	37	12	70938416	70938416	+	Silent	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr12:70938416G>C	ENST00000334414.6	-	22	5459	c.5415C>G	c.(5413-5415)ctC>ctG	p.L1805L	PTPRB_ENST00000538708.1_Silent_p.L1497L|PTPRB_ENST00000550358.1_Silent_p.L1717L|PTPRB_ENST00000261266.5_Silent_p.L1587L|PTPRB_ENST00000550857.1_Silent_p.L1497L|PTPRB_ENST00000451516.2_Silent_p.L1497L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1587	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCTCATCAAAGAGCTGTGTAA	0.353000													7	14					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156235879	156235879	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr1:156235879C>T	ENST00000361813.5	-	12	1692	c.1548G>A	c.(1546-1548)atG>atA	p.M516I	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	516					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCTGGCTATTCATTTCCGAGT	0.592000													32	43					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88900095	88900095	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr12:88900095C>G	ENST00000347404.5	-	7	1263	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Missense_Mutation_p.E42Q|KITLG_ENST00000228280.5_Missense_Mutation_p.E259Q	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	259					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TACCTTATCTCATTATCCTCT	0.348000									Testicular Cancer, Familial Clustering of				7	58					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36888731	36888731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr3:36888731G>A	ENST00000429976.2	-	15	5109	c.4862C>T	c.(4861-4863)tCt>tTt	p.S1621F	TRANK1_ENST00000463984.1_5'UTR|TRANK1_ENST00000428977.2_Missense_Mutation_p.S1071F|TRANK1_ENST00000301807.6_Missense_Mutation_p.S1071F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1621					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCGACCCTGAGAAGAGCCTGG	0.453000													8	5					0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50259099	50259099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr16:50259099G>A	ENST00000357464.3	+	11	1421	c.1421G>A	c.(1420-1422)aGa>aAa	p.R474K	PAPD5_ENST00000573002.1_Intron|PAPD5_ENST00000436909.3_Missense_Mutation_p.R553K|PAPD5_ENST00000561678.1_Missense_Mutation_p.R443K			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	443	Ser-rich.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAAAATGTAGAAGTAAAACC	0.383000													15	13					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92380835	92380835	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr13:92380835G>A	ENST00000377067.3	+	4	1442	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	357						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R357H(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAAAGCCCCCGTTGTTCTTTT	0.408000													16	53					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14801855	14801855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr9:14801855C>T	ENST00000380881.4	-	21	4307	c.3492G>A	c.(3490-3492)atG>atA	p.M1164I	FREM1_ENST00000422223.2_Missense_Mutation_p.M1163I|FREM1_ENST00000380880.3_Missense_Mutation_p.M1163I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1163					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGCTCTTTCATCTGACCCT	0.468000													36	24					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136113397	136113397	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chrX:136113397C>T	ENST00000298110.1	-	1	436	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	146						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R146H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GTAACCGCGGCGCTGGGTCAT	0.592000													5	24					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179462890	179462890	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr3:179462890C>T	ENST00000263966.3	+	13	2065	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S	USP13_ENST00000496897.1_Missense_Mutation_p.P467S|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	532					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AAGACCCCTTCCTGAGTTGGT	0.458000													53	29					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089362	113089362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:113089362C>A	ENST00000409871.1	+	12	3268	c.2867C>A	c.(2866-2868)tCa>tAa	p.S956*	ZC3H6_ENST00000343936.4_Nonsense_Mutation_p.S956*	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	956							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TCACACGGTTCAGGAGCTAAA	0.393000													21	40					5.26018e-13	5.58223e-13	1	1	0
PHF10	55274	broad.mit.edu	37	6	170112610	170112610	+	Silent	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr6:170112610G>A	ENST00000339209.4	-	8	952	c.829C>T	c.(829-831)Ctg>Ttg	p.L277L	PHF10_ENST00000366780.4_Silent_p.L275L	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	277	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTTAATGGCAGATACCGCAGC	0.443000													12	11					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149494363	149494363	+	RNA	SNP	C	C	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr7:149494363C>A	ENST00000378016.2	+	0	6834							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCCAGATTCCATTCCACAG	0.652000													17	23					3.99206e-14	4.2949e-14	1	1	0
NMT1	4836	broad.mit.edu	37	17	43182991	43182991	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr17:43182991G>C	ENST00000592782.1	+	13	1606	c.1475G>C	c.(1474-1476)gGa>gCa	p.G492A	NMT1_ENST00000258960.2_Missense_Mutation_p.G492A			P30419	NMT1_HUMAN	N-myristoyltransferase 1	492					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCCTAGGTTGGACTGGTGCTA	0.532000													13	60					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265151	67265151	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:67265151C>G	ENST00000356404.3	-	13	2008		c.e13-1		PITPNM1_ENST00000534749.1_Splice_Site|PITPNM1_ENST00000436757.2_Splice_Site	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1						brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTCATTGTTCTGGATGGAAC	0.587000													15	15					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167520	89167520	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr16:89167520C>T	ENST00000317447.4	+	3	808	c.431C>T	c.(430-432)tCt>tTt	p.S144F	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.S144F	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	144					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TCCCAGAGCTCTGTGGTCCTT	0.647000													30	19					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756233	183756233	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr3:183756233G>A	ENST00000382489.3	+	7	956	c.956G>A	c.(955-957)gGc>gAc	p.G319D	HTR3D_ENST00000428798.2_Missense_Mutation_p.G269D|HTR3D_ENST00000334128.2_Missense_Mutation_p.G144D|HTR3D_ENST00000453435.1_Missense_Mutation_p.G98D	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	319						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGATGGTGGGCAGCCTGCTG	0.622000													72	36					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62842646	62842646	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr20:62842646A>G	ENST00000536311.1	+	8	1743	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	MYT1_ENST00000360149.4_Missense_Mutation_p.H162R|MYT1_ENST00000328439.1_Missense_Mutation_p.H460R			Q01538	MYT1_HUMAN	myelin transcription factor 1	460					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TACCCTCACCACCGCAGCCTT	0.552000													19	35					0	0	1	0	0
ECEL1P2	347694	broad.mit.edu	37	2	233251635	233251635	+	RNA	DEL	G	G	-			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr2:233251635delG	ENST00000461596.1	-	0	119					NR_028501.1																						CGCATCTCGAGGCACAAGCGG	0.711													2	4	---	---	---	---					
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	-	T	rs17875385		TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr6:29694802_29694803insT	ENST00000259951.7	+	7	1235_1236	c.1179_1180insT	c.(1180-1182)tttfs	p.F394fs	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													9	181	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971048	21971058	+	Frame_Shift_Del	DEL	GCCGCGCCCCG	GCCGCGCCCCG	-	rs137854598		TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr9:21971048_21971058delGCCGCGCCCCG	ENST00000579755.1	-	2	635_645	c.343_353delCGGGGCGCGGC	c.(343-354)cggggcgcggctfs	p.RGAA115fs	CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.RGAA156fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.GARL50fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.GARL50fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GARL101fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.GARL50fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.GARL101fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.RGAA115fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.GARL50fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.GARL50fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GARL101fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GARL101fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	131					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.A102V(3)|p.G101G(3)|p.A102A(2)|p.A102E(2)|p.L104fs*42(2)|p.H83fs*2(2)|p.R103Q(1)|p.A102fs*18(1)|p.R103R(1)|p.A102P(1)|p.0(1)|p.R103fs*43(1)|p.T93_D105del(1)|p.G101W(1)|p.A68fs*3(1)|p.A102T(1)|p.G101fs*17(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCACGTCCAGCCGCGCCCCGGCCCGGTGCA	0.758		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	12	---	---	---	---					
EHMT1	79813	broad.mit.edu	37	9	140605432	140605432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr9:140605432delG	ENST00000460843.1	+	2	62	c.35delG	c.(34-36)aggfs	p.R12fs	EHMT1_ENST00000334856.6_5'UTR|EHMT1_ENST00000462484.1_Frame_Shift_Del_p.R12fs|EHMT1_ENST00000371394.2_Intron	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	12					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GTTCCGGCGAGGGGGGAGCCT	0.567													2	4	---	---	---	---					
TAF6L	10629	broad.mit.edu	37	11	62546373	62546375	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr11:62546373_62546375delCTT	ENST00000294168.3	+	6	670_672	c.469_471delCTT	c.(469-471)cttdel	p.L158del	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	158					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GACAGATGACCTTCTCAAGTACT	0.571													10	88	---	---	---	---					
DLX3	1747	broad.mit.edu	37	17	48072117	48072117	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chr17:48072117delG	ENST00000434704.2	-	1	471	c.246delC	c.(244-246)cccfs	p.P82fs		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	82						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						ATTCCGACTTGGGCGAGTAAG	0.622													15	56	---	---	---	---					
RGAG1	57529	broad.mit.edu	37	X	109695629	109695630	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DK-AA6Q-01A-11D-A391-08	TCGA-DK-AA6Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5baf989e-fe7f-4012-a850-64dcccc40f99	fbe549ed-5b08-44db-b019-704514ad7228	g.chrX:109695629_109695630delAC	ENST00000465301.2	+	3	2030_2031	c.1784_1785delAC	c.(1783-1785)gacfs	p.D595fs	RGAG1_ENST00000540313.1_Frame_Shift_Del_p.D595fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	595										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TTAATGAGAGACACAGCCTCAG	0.500													28	47	---	---	---	---