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
SBF1	6305	broad.mit.edu	37	22	50893710	50893710	+	Silent	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr22:50893710G>A	uc003blh.3	-	32	4692	c.4497C>T	c.(4495-4497)gcC>gcT	p.A1499A	SBF1_uc003ble.3_5'UTR|SBF1_uc011arx.2_Silent_p.A1137A	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1473	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCTGCCCGGCCAGGGTGT	0.667000													4	32					0	0	1	0	0
WDR83	84292	broad.mit.edu	37	19	12780860	12780860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:12780860C>A	uc002mue.4	+	3	518	c.173C>A	c.(172-174)aCg>aAg	p.T58K	WDR83_uc002muc.3_Non-coding_Transcript|WDR83OS_uc002mud.2_5'Flank|WDR83_uc010dyw.3_Missense_Mutation_p.T58K	NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN	Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.	58					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						CTTCGGGGGACGCTGCTGCGG	0.677000													3	75					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731123	23731123	+	Splice_Site	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:23731123C>G	uc003zpu.3	-	3	505	c.230_splice	c.e3-1	p.G77_splice	ELAVL2_uc003zps.3_Splice_Site_p.G77_splice|ELAVL2_uc003zpt.3_Splice_Site_p.G77_splice|ELAVL2_uc003zpv.3_Splice_Site_p.G77_splice|ELAVL2_uc003zpw.3_Splice_Site_p.G77_splice	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	77	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAAGCTCTGCCCTAATGAAAA	0.393000													17	28					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105849745	105849745	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr14:105849745G>A	uc001yqu.3	+	15	2179	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	PACS2_uc001yqs.2_Missense_Mutation_p.G480R|PACS2_uc001yqt.3_Missense_Mutation_p.G555R|PACS2_uc001yqv.3_Missense_Mutation_p.G559R	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	555					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CGCCGTGGCGGGAGCGCAGCA	0.642000													3	111					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:53116885A>G	uc002pzu.4	-	1	2177	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_uc002pzv.4_Silent_p.H311H|ZNF83_uc010eps.3_Silent_p.H283H|ZNF83_uc010ept.3_Silent_p.H311H|ZNF83_uc010epu.3_Silent_p.H311H|ZNF83_uc010epw.3_Silent_p.H311H|ZNF83_uc010epv.3_Silent_p.H311H|ZNF83_uc010epx.3_Silent_p.H283H|ZNF83_uc010epy.3_Silent_p.H311H|ZNF83_uc010epz.3_Silent_p.H283H|ZNF83_uc010eqb.2_Silent_p.H283H|ZNF83_uc021uyx.1_Silent_p.H311H	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000													5	176					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168819875	168819875	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:168819875C>T	uc011bpj.1	-	10	3147	c.2744G>A	c.(2743-2745)cGg>cAg	p.R915Q	MECOM_uc010hwk.1_Missense_Mutation_p.R741Q|MECOM_uc003ffj.3_Missense_Mutation_p.R792Q|MECOM_uc003ffi.3_Missense_Mutation_p.R727Q|MECOM_uc011bpi.1_Missense_Mutation_p.R719Q|MECOM_uc003ffn.3_Missense_Mutation_p.R727Q|MECOM_uc003ffk.2_Missense_Mutation_p.R718Q|MECOM_uc003ffl.2_Missense_Mutation_p.R878Q|MECOM_uc011bpk.1_Missense_Mutation_p.R727Q|MECOM_uc010hwn.2_Missense_Mutation_p.R906Q	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTCCCTTCCGCAGAAGGTT	0.502000													15	41					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41159224	41159224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr5:41159224G>A	uc003jmk.2	-	11	2026	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	C6_uc003jml.1_Nonsense_Mutation_p.R606*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	606	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCTCTTGTCGCTTCTCCCCC	0.468000													49	115					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45579626	45579626	+	Silent	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:45579626G>A	uc002pao.3	-	0	63	c.6C>T	c.(4-6)tcC>tcT	p.S2S	GEMIN7_uc002pap.1_5'Flank|GEMIN7_uc002paq.1_5'Flank|GEMIN7_uc002par.1_5'Flank	NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	2					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCTTGCGGCGGGACATGAGTC	0.751000													3	41					0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18092575	18092575	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:18092575G>A	uc002nht.3	+	4	866	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	KCNN1_uc010xqa.1_Missense_Mutation_p.V186M	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	186					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CTGCGAGCGCGTGTTCCTCAT	0.662000													11	44					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:12187275G>C	uc002mtb.2	+	3	1483	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_uc010dym.1_Missense_Mutation_p.R290P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000													3	95					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139740894	139740894	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:139740894G>T	uc011meh.2	+	0	2028	c.2028G>T	c.(2026-2028)atG>atT	p.M676I	PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	676										endometrium(2)|large_intestine(1)|lung(6)	9						CCGAGACCATGTTCAACGCCT	0.692000													3	48					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43615632	43615632	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:43615632C>T	uc001jal.3	+	14	2901	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F	RET_uc001jak.1_Missense_Mutation_p.S904F|RET_uc010qez.1_Missense_Mutation_p.S650F	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	904	Protein kinase.			S -> P (in Ref. 6; AAA36786).	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAAGAGGATTCCTACGTGAAG	0.592000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				8	31					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034141	150034141	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:150034141C>T	uc003wgz.4	+	0	191	c.191C>T	c.(190-192)gCg>gTg	p.A64V	LRRC61_uc003wgv.3_Missense_Mutation_p.A64V|LRRC61_uc003wgx.3_Missense_Mutation_p.A64V|LRRC61_uc003wgw.3_Missense_Mutation_p.A64V	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	64										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCAGGCAACGCGCTCACCCAC	0.652000													4	114					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:12501446T>C	uc010dyt.3	-	3	1970	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													4	53					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432663	2432663	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:2432663G>A	uc010qxl.2	-	17	2710	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	TRPM5_uc001lwm.4_Missense_Mutation_p.R901C|TRPM5_uc009ydn.3_Missense_Mutation_p.R903C	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	901						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACTCCAGGCGGCCGTCATGG	0.617000													19	27					0	0	1	0	0
XCL1	6375	broad.mit.edu	37	1	168549329	168549329	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:168549329G>C	uc001gfo.2	+	1	255	c.90G>C	c.(88-90)agG>agC	p.R30S		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	30					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of B cell chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of activated T cell proliferation|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGATAAGAGGACCTGTGTGA	0.458000													19	71					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632698	143632698	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:143632698G>A	uc011ktv.2	+	0	373	c.373G>A	c.(373-375)Gct>Act	p.A125T		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCGCCATGTGGCTGTGTCTGA	0.557000													35	89					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148696	45148696	+	Silent	SNP	T	T	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr13:45148696T>C	uc001uzn.4	-	0	2006	c.1515A>G	c.(1513-1515)caA>caG	p.Q505Q	TSC22D1_uc001uzo.2_Silent_p.Q505Q|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	505	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		gttgctgttgttgttgttgtt	0.507000													42	80					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667629	65667629	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr15:65667629C>T	uc002aos.2	-	1	467	c.215G>A	c.(214-216)cGa>cAa	p.R72Q		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	72	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGGTGATTCGCACTGGAGG	0.592000													13	32					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237982395	237982395	+	Silent	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:237982395C>T	uc001hyl.1	+	100	14613	c.14493C>T	c.(14491-14493)atC>atT	p.I4831I	RYR2_uc010pyb.1_Silent_p.I264I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4831					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I4829I(2)|p.D4831H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATGAAATCGAAGACCCAG	0.413000													24	41					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595849	36595849	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:36595849G>A	uc021qgb.1	+	0	995	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R332Q	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	332					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	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)				CCCTCTTGCCGATATCCATGC	0.498000									Familial Hemophagocytic Lymphohistiocytosis				25	43					0	0	1	0	0
IRAK1	3654	broad.mit.edu	37	X	153278063	153278063	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chrX:153278063C>T	uc004fjs.1	-	12	2076	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	IRAK1_uc004fjr.1_Missense_Mutation_p.R636Q|IRAK1_uc004fjt.1_Missense_Mutation_p.R587Q	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	666					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCTTCTGTCGGGCAGGGTT	0.632000													31	30					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51462556	51462556	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:51462556G>A	uc002puh.3	-	4	691	c.626C>T	c.(625-627)cCg>cTg	p.P209L	KLK6_uc010eoj.3_Missense_Mutation_p.R72C|KLK6_uc002pui.3_Missense_Mutation_p.P200L|KLK6_uc002puj.3_Missense_Mutation_p.P93L|KLK6_uc010ycn.2_Missense_Mutation_p.P93L|KLK6_uc002pul.3_Missense_Mutation_p.P200L|KLK6_uc002pum.3_Missense_Mutation_p.P93L	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	200	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.G209D(1)|p.P200L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACATACCAGCGGACCCCCAGA	0.527000													18	37					0	0	1	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138103	138103	+	RNA	SNP	T	T	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chrGL000195.1:138103T>C	uc003won.1	+	0		c.137T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGGGGACGCATAGTTAAGGTG	0.597000													3	10					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21252827	21252827	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr2:21252827C>T	uc002red.3	-	10	1541	c.1413G>A	c.(1411-1413)atG>atA	p.M471I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	471	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAATCTGTTCCATCAGGTAAT	0.428000													11	131					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144220807	144220807	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:144220807A>C	uc010oxn.1	+	14	1833	c.1793A>C	c.(1792-1794)gAt>gCt	p.D598A	NBPF10_uc010oxo.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Missense_Mutation_p.D515A|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.D271A|NBPF10_uc001ekk.1_Missense_Mutation_p.D271A|NBPF10_uc010oyd.1_Missense_Mutation_p.D27A|NBPF10_uc021otp.1_Missense_Mutation_p.D515A|NBPF10_uc021otu.1_Missense_Mutation_p.D271A	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	869										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGCTGCTGGATGAGAAAGAG	0.483000													22	145					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119227592	119227592	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:119227592C>T	uc001pwm.4	-	12	2066	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	USP2_uc001pwl.4_Missense_Mutation_p.A382T|USP2_uc001pwn.4_Missense_Mutation_p.A348T	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	591					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGCAGGTAGGCGTCGCTGGTG	0.692000											OREG0021404	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590800	172590800	+	Missense_Mutation	SNP	G	G	A	rs148150409	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr5:172590800G>A	uc003mci.4	+	6	796	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	BNIP1_uc003mcj.4_Missense_Mutation_p.R188Q|BNIP1_uc003mck.4_Missense_Mutation_p.R197Q|BNIP1_uc003mcl.4_Missense_Mutation_p.R154Q|BNIP1_uc021yhw.1_Missense_Mutation_p.R101Q	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	188					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGGGCCGGAAGCTTATC	0.488000													3	86					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370062	35370062	+	Missense_Mutation	SNP	G	G	A	rs147968723		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:35370062G>A	uc001byc.3	-	0	923	c.923C>T	c.(922-924)tCg>tTg	p.S308L		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	308					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.G307R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCGGCCTTCCGACCCGCCCGA	0.667000													25	67					0	0	1	0	0
MRPL54	116541	broad.mit.edu	37	19	3762707	3762707	+	Silent	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:3762707C>G	uc002lyq.4	+	0	43	c.9C>G	c.(7-9)acC>acG	p.T3T	APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.	3						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGCGACCAAACGCCTTT	0.632000													37	105					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824675	125824675	+	Silent	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:125824675G>A	uc003eim.1	-	21	2737	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.V748V|ALDH1L1_uc003ein.1_Silent_p.V384V	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	849	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTTGTCACTGACATACAGGG	0.552000													5	177					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69884020	69884020	+	Silent	SNP	T	T	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr4:69884020T>A	uc011cao.1	-	3	798	c.672A>T	c.(670-672)ccA>ccT	p.P224P	UGT2B10_uc011can.1_Silent_p.P140P			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	268					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTGGTAAGAATGGATGAGGAA	0.398000													4	170					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:197348674A>G	uc011bug.2	-	3		c.417T>C			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		GGCTCTGTCCACCAAATGCAC	0.478000													3	133					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102248628	102248628	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:102248628G>T	uc001krc.1	-	23	3377	c.3275C>A	c.(3274-3276)tCt>tAt	p.S1092Y	SEC31B_uc010qpo.1_Missense_Mutation_p.S1091Y|SEC31B_uc001krd.1_Missense_Mutation_p.S629Y|SEC31B_uc001krf.1_Missense_Mutation_p.S525Y|SEC31B_uc001kre.1_Missense_Mutation_p.S524Y	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	1092					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTCAGTTGCAGACAGGGAGCA	0.577000													35	62					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279892	17279892	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:17279892G>A	uc010hev.3	-	17	1615	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TBC1D5_uc010heu.3_Missense_Mutation_p.P38S|TBC1D5_uc003cbf.3_Missense_Mutation_p.P451S|TBC1D5_uc003cbe.3_Missense_Mutation_p.P451S|TBC1D5_uc010hew.1_Missense_Mutation_p.P403S	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	451						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATATTCAGGGGAGCACCTTTG	0.388000													12	46					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr12:126138738G>A	uc001uhe.1	+	8	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_uc001uhf.1_Missense_Mutation_p.V419I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	907						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522000													26	57					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17026466	17026466	+	Missense_Mutation	SNP	C	C	T	rs114606754	by1000genomes	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:17026466C>T	uc001azn.1	-	6	1220	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GCGGGGCTTGCGGCTGGAGTC	0.736000													7	20					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617150	111617150	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:111617150C>T	uc004bdi.3	-	0	1126	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	354						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.R354H(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTCTGGAAGCGCTCGGGGAA	0.677000													16	40					0	0	1	0	0
UPP1	7378	broad.mit.edu	37	7	48141449	48141449	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:48141449G>A	uc003toj.3	+	5	720	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	UPP1_uc003tok.3_Missense_Mutation_p.R64Q|UPP1_uc003tol.3_Missense_Mutation_p.R64Q|UPP1_uc011kcg.1_Missense_Mutation_p.R64Q|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_Intron	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	64					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	p.S63F(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						AGCCCCTCCCGGATGAAAGCC	0.567000													25	73					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144220816	144220816	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:144220816A>G	uc010oxn.1	+	14	1842	c.1802A>G	c.(1801-1803)gAg>gGg	p.E601G	NBPF10_uc010oxo.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Missense_Mutation_p.E518G|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.E274G|NBPF10_uc001ekk.1_Missense_Mutation_p.E274G|NBPF10_uc010oyd.1_Missense_Mutation_p.E30G|NBPF10_uc021otp.1_Missense_Mutation_p.E518G|NBPF10_uc021otu.1_Missense_Mutation_p.E274G	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	872										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGAGAAAGAGCCTGAAGTC	0.483000													4	157					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183207488	183207488	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:183207488C>T	uc001gqa.2	+	18	3115	c.2801C>T	c.(2800-2802)gCa>gTa	p.A934V	LAMC2_uc001gpz.4_Missense_Mutation_p.A934V|LAMC2_uc010poa.2_Missense_Mutation_p.A634V	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	934	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.R933K(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAAAGCAGAGCACAAGAAGCA	0.418000													37	109					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390896	100390896	+	Silent	SNP	C	C	T	rs140465249	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr6:100390896C>T	uc003pqh.1	-	3	831	c.516G>A	c.(514-516)tcG>tcA	p.S172S	MCHR2_uc003pqi.1_Silent_p.S172S	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	172						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Y171H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGATGACCTTCGAGTAGACCC	0.448000													34	95					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881296	69881296	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:69881296G>T	uc001jnm.4	+	2	286	c.101G>T	c.(100-102)cGa>cTa	p.R34L	MYPN_uc001jnl.1_Missense_Mutation_p.R34L|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.R34L|MYPN_uc001jnp.1_Missense_Mutation_p.R34L|MYPN_uc009xps.3_Missense_Mutation_p.R34L|MYPN_uc009xpt.3_Missense_Mutation_p.R34L|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	34	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGAGGAGTCGAGCGGAGCCC	0.522000													3	77					0	0	1	0	0
TSPAN4	7106	broad.mit.edu	37	11	864455	864455	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:864455C>G	uc001lsd.1	+	4	483	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_uc001lse.1_Missense_Mutation_p.L28V|TSPAN4_uc001lsf.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsg.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsh.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsi.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsj.1_Missense_Mutation_p.L92V	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672000													4	180					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259209	150259209	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:150259209G>A	uc001euj.3	+	4	1450	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	C1orf51_uc001euh.3_Missense_Mutation_p.R334H|C1orf51_uc001eui.3_Missense_Mutation_p.R246H	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	334										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGGTCCTCGTTGCTACAGT	0.552000													47	122					0	0	1	0	0
TMEM102	284114	broad.mit.edu	37	17	7340279	7340279	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7340279G>T	uc002ggx.1	+	2	1254	c.981G>T	c.(979-981)tgG>tgT	p.W327C	SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Missense_Mutation_p.W327C|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.3_5'Flank|FGF11_uc002ggz.3_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	Homo sapiens transmembrane protein 102 (TMEM102), mRNA.	327					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGCGGGCTGGCCCGAGGGGG	0.726000													3	18					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154303605	154303605	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:154303605G>T	uc001fex.3	+	4	385	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	ATP8B2_uc001few.3_Missense_Mutation_p.D96Y|ATP8B2_uc001fey.1_Missense_Mutation_p.D115Y	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	115					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTGTTAAAGATGCCACTGA	0.488000													21	40					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413602	68413602	+	RNA	SNP	A	A	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:68413602A>G	uc004aex.3	+	0		c.157A>G								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCTTTTGCTGAAACTCTGGGG	0.602000													3	2					0	0	1	0	0
GAR1	54433	broad.mit.edu	37	4	110737454	110737454	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr4:110737454G>A	uc003hzt.3	+	1	441	c.134G>A	c.(133-135)gGc>gAc	p.G45D	GAR1_uc003hzu.3_Missense_Mutation_p.G45D|GAR1_uc010imh.1_Missense_Mutation_p.G45D|GAR1_uc010imi.3_Missense_Mutation_p.G45D	NM_018983	NP_127460	Q9NY12	GAR1_HUMAN	Homo sapiens GAR1 ribonucleoprotein homolog (yeast) (GAR1), transcript variant 1, mRNA.	45	RGG-box 1.				rRNA processing|snRNA pseudouridine synthesis	Cajal body|box H/ACA snoRNP complex	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						agaggcggcggcaggggaggA	0.607000													4	57					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40717505	40717505	+	Silent	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:40717505G>T	uc010cyj.3	+	8	1693	c.1491G>T	c.(1489-1491)gtG>gtT	p.V497V	COASY_uc002hzz.3_Silent_p.V468V|COASY_uc002iab.3_Silent_p.V173V|COASY_uc002iad.3_Silent_p.V468V|COASY_uc002iac.3_Silent_p.V468V|COASY_uc002iae.3_Silent_p.V263V|MLX_uc002iaf.3_5'Flank|MLX_uc002iag.3_5'Flank|MLX_uc002iah.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	468	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GTGTGTGTGTGATTGATGCCG	0.612000													17	49					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48352729	48352729	+	Silent	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:48352729C>T	uc003toq.2	+	24	9606	c.9582C>T	c.(9580-9582)agC>agT	p.S3194S	ABCA13_uc010kys.1_Silent_p.S268S|ABCA13_uc003tos.1_Silent_p.S20S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3194					transport	integral to membrane	ATP binding|ATPase activity	p.S3139S(1)|p.S3194S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCAGCCTCAGCGCCTTGCTTG	0.433000													10	18					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:183515266_183515267insA	uc001gqg.3	+	16	2786_2787	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_uc010pob.2_Frame_Shift_Ins_p.E829fs|SMG7_uc021pga.1_Frame_Shift_Ins_p.E758fs|SMG7_uc001gqf.3_Frame_Shift_Ins_p.E800fs|SMG7_uc001gqh.3_Frame_Shift_Ins_p.E800fs|SMG7_uc010poc.2_Frame_Shift_Ins_p.E804fs	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	846					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.450													7	61	---	---	---	---					
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	-	-	rs11278152		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:226924876_226924884delCTGCCGCTG	uc010pvo.2	-	1	616_624	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_uc001hqh.3_In_Frame_Del_p.92_95SSGS>S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	92							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A94P(1)|p.V95L(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746													3	6	---	---	---	---					
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	CC	CC	rs143568999	by1000genomes	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:21447901_21447902insCC	uc003ccd.3	+	0		c.684_685insCC								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CTGGCATACCACCCCCCACGCC	0.663													2	4	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:55733470_55733472delTGG	uc021wzo.1	-	14	2921_2923	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_In_Frame_Del_p.923_924HH>H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	927	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													18	441	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5352791	5352793	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:5352791_5352793delGCT	uc003soi.4	-	26	8078_8080	c.7729_7731delAGC	c.(7729-7731)agcdel	p.S2577del		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2577	Ser-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTCCGAgccgctgctgctgctg	0.690													2	4	---	---	---	---					
BRAF	673	broad.mit.edu	37	7	140453122	140453133	+	In_Frame_Del	DEL	TCCATCGAGATT	-	-	rs121913365		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:140453122_140453133delTCCATCGAGATT	uc003vwc.4	-	14	1863_1874	c.1802_1813delAATCTCGATGGA	c.(1801-1815)aaatctcgatggagt>agt	p.KSRW601del		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(25751)|p.V600?(377)|p.V600K(363)|p.K601E(77)|p.V600R(55)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.K601N(22)|p.V600_K601>E(18)|p.V600A(12)|p.V600G(11)|p.R603*(8)|p.T599_V600insT(7)|p.K601del(5)|p.W604del(4)|p.T599_R603>I(4)|p.W604G(4)|p.S605G(3)|p.K601Q(3)|p.T599_V600insTT(3)|p.K601K(2)|p.K601I(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.W604*(2)|p.W604R(2)|p.V600Q(2)|p.S605F(2)|p.S602S(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601L(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.K601R(1)|p.T599_V600insV(1)|p.W604S(1)|p.V600>DLAT(1)|p.S602Y(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGGGACCCACTCCATCGAGATTTCACTGTAGC	0.382	K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	93	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7578222_7578223delTC	uc002gim.2	-	5	820_821	c.626_627delGA	c.(625-627)agafs	p.R209fs	TP53_uc002gig.1_Frame_Shift_Del_p.R209fs|TP53_uc002gih.3_Frame_Shift_Del_p.R209fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.R77fs|TP53_uc010cnf.1_Frame_Shift_Del_p.R77fs|TP53_uc002gii.1_Frame_Shift_Del_p.R77fs|TP53_uc010cni.1_Frame_Shift_Del_p.R209fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R209fs|TP53_uc002gij.2_Frame_Shift_Del_p.R209fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.R116fs|TP53_uc002gio.2_Frame_Shift_Del_p.R77fs|TP53_uc010vug.2_Frame_Shift_Del_p.R170fs|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	209	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R209fs*6(72)|p.R209*(16)|p.D208V(14)|p.R209K(12)|p.0?(8)|p.R209T(6)|p.D208E(5)|p.?(5)|p.R209fs*35(4)|p.R209fs*38(4)|p.D208G(3)|p.D208N(2)|p.R77fs*6(2)|p.E204_N210delEYLDDRN(2)|p.R209fs*36(2)|p.D207_R213delDDRNTFR(2)|p.D207fs*6(2)|p.D208_V216delDRNTFRHSV(2)|p.D208fs*1(2)|p.R209S(2)|p.R209I(2)|p.R209_R213delRNTFR(2)|p.D207_V216del10(2)|p.R116fs*6(2)|p.R209fs*5(2)|p.K164_P219del(1)|p.R77K(1)|p.D208I(1)|p.D208H(1)|p.R116K(1)|p.D208Y(1)|p.N210fs*7(1)|p.R209R(1)|p.D208fs*?(1)|p.D208fs*39(1)|p.D208fs*38(1)|p.R209fs*7(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)		GAAAAGTGTTTCTGTCATCCAA	0.535		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)			40	42	---	---	---	---					
BAHCC1	57597	broad.mit.edu	37	17	79428907	79428909	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:79428907_79428909delCAG	uc002kaf.2	+	24	7032_7034	c.7032_7034delCAG	c.(7030-7035)cccagc>ccc	p.S2348del	BAHCC1_uc002kae.2_In_Frame_Del_p.S1640del	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	2410	Ser-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCTCAGGCCCCAGCAGCAGCAGC	0.690													2	4	---	---	---	---					
