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
C14orf93	60686	broad.mit.edu	37	14	23467792	23467792	+	Silent	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr14:23467792G>A	ENST00000299088.6	-	2	870	c.441C>T	c.(439-441)agC>agT	p.S147S	C14orf93_ENST00000397379.3_Silent_p.S147S|C14orf93_ENST00000341470.4_Silent_p.S147S|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000397382.4_Silent_p.S147S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Silent_p.S147S	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	147						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CGCTGCCCACGCTGTCACACT	0.642000													4	37					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74319545	74319545	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr9:74319545G>A	ENST00000377044.4	-	18	3699	c.3160C>T	c.(3160-3162)Cgg>Tgg	p.R1054W	TMEM2_ENST00000377066.5_Missense_Mutation_p.R991W|TMEM2_ENST00000396272.3_Missense_Mutation_p.R47W	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1054						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AATGTAGTCCGTGGTGCCGGC	0.433000													21	35					0	0	1	0	0
LZTS3	0	broad.mit.edu	37	20	3145297	3145297	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr20:3145297T>G	ENST00000329152.3	-	3	3222	c.1825A>C	c.(1825-1827)Aag>Cag	p.K609Q	LZTS3_ENST00000360342.3_Missense_Mutation_p.K563Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.K563Q																							ACCTTCTCCTTCTCCTCCAGC	0.711000													10	14					0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	103004675	103004675	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr7:103004675C>T	ENST00000435765.1	+	9	1088	c.677C>T	c.(676-678)gCg>gTg	p.A226V	PSMC2_ENST00000544811.1_Missense_Mutation_p.A89V|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.A226V|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	226					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						ACACTCTGTGCGCGGGCAGTT	0.498000													11	63					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25274826	25274826	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr12:25274826T>C	ENST00000354189.5	-	11	1309	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	CASC1_ENST00000320267.9_Missense_Mutation_p.N361S|CASC1_ENST00000395990.2_Missense_Mutation_p.N321S|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.N367S|CASC1_ENST00000537577.1_Missense_Mutation_p.N249S|CASC1_ENST00000545133.1_Missense_Mutation_p.N302S	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	361										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCAGAAGAATTCTCTACCAG	0.338000													24	134					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907134	164907134	+	Silent	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr3:164907134G>A	ENST00000475390.1	-	2	1928	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	SLITRK3_ENST00000241274.3_Silent_p.I495I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	495						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGCAGGCTGGATTTCCCGGA	0.488000										HNSCC(40;0.11)			4	37					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	49					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96117466	96117466	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr11:96117466T>G	ENST00000278520.5	-	3	874	c.446A>C	c.(445-447)cAg>cCg	p.Q149P	CCDC82_ENST00000542662.1_Missense_Mutation_p.Q149P|CCDC82_ENST00000423339.2_Missense_Mutation_p.Q149P			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	149			Q -> E (in dbSNP:rs17851661).				protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATGTTTTTCCTGATCATCCTC	0.318000													14	118					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31617976	31617976	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr14:31617976C>T	ENST00000399332.1	-	15	2935	c.2447G>A	c.(2446-2448)gGc>gAc	p.G816D	HECTD1_ENST00000553700.1_Missense_Mutation_p.G816D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	816					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCCTCTTTTGCCAGTCCAGCC	0.323000													3	57					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102641116	102641116	+	Silent	SNP	C	C	T	rs141821381	byFrequency	TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr2:102641116C>T	ENST00000332549.3	+	7	1102	c.873C>T	c.(871-873)acC>acT	p.T291T	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000441002.1_Silent_p.T291T|IL1R2_ENST00000393414.2_Silent_p.T291T	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	291	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GCCGCGTGACCGAGGGGCCAC	0.572000													5	50					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152133	123152133	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr7:123152133C>A	ENST00000466202.1	-	2	838	c.262G>T	c.(262-264)Gtt>Ttt	p.V88F	IQUB_ENST00000434450.1_Missense_Mutation_p.V88F|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.V88F	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	88								p.V88F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTATATGAAACTTGTCTTGGT	0.398000													11	147					1.08611e-07	1.17185e-07	1	1	0
TJAP1	93643	broad.mit.edu	37	6	43466774	43466774	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr6:43466774G>C	ENST00000372444.2	+	5	468	c.35G>C	c.(34-36)cGt>cCt	p.R12P	TJAP1_ENST00000259751.1_Missense_Mutation_p.R12P|TJAP1_ENST00000438588.2_Missense_Mutation_p.R12P|TJAP1_ENST00000436109.2_Missense_Mutation_p.R12P|TJAP1_ENST00000372449.1_Missense_Mutation_p.R12P|TJAP1_ENST00000372452.1_Missense_Mutation_p.R12P|TJAP1_ENST00000372445.5_Missense_Mutation_p.R12P|TJAP1_ENST00000483640.1_3'UTR	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	12						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAACCCTACCGTAAGGCACCA	0.592000													5	29					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr2:97869979G>T	ENST00000420699.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328000													3	25					1	1	1	1	0
AMER2	219287	broad.mit.edu	37	13	25743973	25743973	+	Silent	SNP	T	T	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr13:25743973T>C	ENST00000357816.2	-	3	1903	c.1428A>G	c.(1426-1428)ccA>ccG	p.P476P	AMER2_ENST00000381853.3_Silent_p.P476P|AMER2_ENST00000515384.1_Silent_p.P595P					APC membrane recruitment protein 2																		GTGTTCGCAGTGGACAGGTGA	0.572000													4	88					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	50					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458000													3	50					0	0	1	0	0
PCDHA1	0	broad.mit.edu	37	5	140167805	140167805	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr5:140167805C>T	ENST00000504120.2	+	1	1930	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R644C|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTTGTCGCGCTACCGCCT	0.662000													13	61					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954430	33954430	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr15:33954430G>A	ENST00000389232.4	+	35	4769	c.4699G>A	c.(4699-4701)Gcg>Acg	p.A1567T	RYR3_ENST00000415757.3_Missense_Mutation_p.A1567T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1567	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCTACAGCGCGGTGTGCGC	0.607000													3	12					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34006159	34006159	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:34006159A>C	ENST00000373381.4	-	60	9773	c.9597T>G	c.(9595-9597)aaT>aaG	p.N3199K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3175	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCAGGACCCATTTCCCTCAC	0.582000													12	42					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62589625	62589625	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr17:62589625T>G	ENST00000262435.9	-	4	454	c.267A>C	c.(265-267)caA>caC	p.Q89H	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	89	C2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATCCAGCACCTTGTTTCTTAT	0.398000													14	75					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89148373	89148373	+	Silent	SNP	T	T	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr14:89148373T>C	ENST00000554922.1	-	21	3233	c.2985A>G	c.(2983-2985)ggA>ggG	p.G995G	EML5_ENST00000352093.5_Silent_p.G957G|EML5_ENST00000380664.5_Silent_p.G995G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	995						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTTCCATGTGTCCCTATAAAG	0.353000													9	72					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773318	229773318	+	Silent	SNP	T	T	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:229773318T>A	ENST00000258243.2	+	4	3094	c.2958T>A	c.(2956-2958)ctT>ctA	p.L986L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	986						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTAGGTTCCTTATTGAGATGG	0.443000													14	125					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	130980422	130980422	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr5:130980422C>T	ENST00000307968.7	-	17	3372	c.3373G>A	c.(3373-3375)Gta>Ata	p.V1125I	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.V1153I|FNIP1_ENST00000307954.8_Missense_Mutation_p.V1108I	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GTGCTTGCTACAGCAGCCAGA	0.383000													7	30					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62813885	62813885	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:62813885A>T	ENST00000512091.2	+	16	3239	c.2492A>T	c.(2491-2493)tAt>tTt	p.Y831F	LPHN3_ENST00000509896.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y831F			Q9HAR2	LPHN3_HUMAN	latrophilin 3		GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATGACAGGTTATTGGTCAACA	0.403000													3	38					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19115404	19115404	+	Silent	SNP	C	C	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:19115404C>T	ENST00000601879.1	-	7	2799	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V	SUGP2_ENST00000337018.6_Silent_p.V834V|SUGP2_ENST00000600377.1_Silent_p.V848V|SUGP2_ENST00000456085.2_Silent_p.V603V|SUGP2_ENST00000452918.2_Silent_p.V834V			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	834					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATAGTTCAAACACTTTCTTTC	0.458000													24	58					0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11832823	11832823	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:11832823C>A	ENST00000341191.6	-	4	1679	c.1526G>T	c.(1525-1527)aGt>aTt	p.S509I	ZNF823_ENST00000545749.1_Missense_Mutation_p.S327I	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ACTGAAATGACTGAAGGCTTT	0.378000										HNSCC(68;0.2)			9	76					3.09899e-07	3.25791e-07	1	1	0
PTCH2	8643	broad.mit.edu	37	1	45295346	45295346	+	Silent	SNP	A	A	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:45295346A>T	ENST00000447098.2	-	8	1034	c.1023T>A	c.(1021-1023)atT>atA	p.I341I	PTCH2_ENST00000372192.3_Silent_p.I341I	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	341					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACTCCAGCCAATGTCATGTG	0.612000									Basal Cell Nevus syndrome				7	71					0	0	1	0	0
FTO	79068	broad.mit.edu	37	16	53913760	53913760	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr16:53913760C>G	ENST00000471389.1	+	6	1202	c.980C>G	c.(979-981)tCa>tGa	p.S327*	FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	327	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CAACAGTGCTCAACAGGAACC	0.413000													3	79					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37485725	37485725	+	Silent	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr22:37485725G>A	ENST00000381792.2	-	7	869	c.729C>T	c.(727-729)ccC>ccT	p.P243P	TMPRSS6_ENST00000406725.1_Silent_p.P243P|TMPRSS6_ENST00000346753.3_Silent_p.P252P|TMPRSS6_ENST00000442782.2_Silent_p.P252P|TMPRSS6_ENST00000406856.1_Silent_p.P243P			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	252	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGAGGTCCTTGGGGCCCTGCA	0.667000													3	10					0	0	1	0	0
CD160	11126	broad.mit.edu	37	1	145699056	145699056	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:145699056T>G	ENST00000369290.1	-	3	265	c.108A>C	c.(106-108)caA>caC	p.Q36H	CD160_ENST00000369288.2_Missense_Mutation_p.Q145H|CD160_ENST00000401557.3_Missense_Mutation_p.Q145H|CD160_ENST00000235933.6_Missense_Mutation_p.Q145H			O95971	BY55_HUMAN	CD160 molecule	145	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGTGTTGTCTTTGTTTCAATC	0.468000													15	71					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102981540	102981540	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:102981540T>G	ENST00000504592.1	+	16	2515	c.2097T>G	c.(2095-2097)atT>atG	p.I699M	BANK1_ENST00000444316.2_Missense_Mutation_p.I684M|BANK1_ENST00000322953.4_Missense_Mutation_p.I714M|BANK1_ENST00000428908.1_Missense_Mutation_p.I581M|BANK1_ENST00000508653.1_Missense_Mutation_p.I581M			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	714					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGGAAATGATTCAGCAGGTAA	0.418000													13	47					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196852857	196852857	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr2:196852857T>A	ENST00000312428.6	-	13	1550	c.1450A>T	c.(1450-1452)Agt>Tgt	p.S484C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	484	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGTGCCACACTCTCTTTCATA	0.373000													4	80					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41889339	41889339	+	Silent	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr6:41889339G>A	ENST00000230340.4	+	1	414	c.39G>A	c.(37-39)caG>caA	p.Q13Q		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	13					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGGGGTCAGGAAAAACATG	0.647000											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	24					0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65278473	65278473	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:65278473G>A	ENST00000294428.3	+	10	1811	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	RAVER2_ENST00000430964.2_Missense_Mutation_p.R117Q|RAVER2_ENST00000371072.4_Missense_Mutation_p.R565Q			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	578						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AAAGAAATTCGGCTCAGTAAA	0.403000													12	29					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369968	56369968	+	Silent	SNP	T	T	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:56369968T>A	ENST00000301295.6	+	3	1631	c.1209T>A	c.(1207-1209)gcT>gcA	p.A403A	NLRP4_ENST00000587891.1_Silent_p.A328A|NLRP4_ENST00000346986.5_Silent_p.A403A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	403	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCCCTGGCTGCAGAGGGTA	0.572000													5	63					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249427	123249427	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:123249427T>G	ENST00000264501.4	+	66	11537	c.11164T>G	c.(11164-11166)Ttg>Gtg	p.L3722V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3722V			Q2LD37	K1109_HUMAN	KIAA1109	3722					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGATGACAGTTTGTCTTCTAC	0.438000													4	79					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186056778	186056778	+	Splice_Site	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:186056778G>A	ENST00000271588.4	+	60	9592		c.e60+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						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						GAAAGCTGAGGTGCATCTTTT	0.403000													24	64					0	0	1	0	0
RP11-452N4.1	0	broad.mit.edu	37	8	136251297	136251299	+	RNA	DEL	AGG	AGG	-			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr8:136251297_136251299delAGG	ENST00000522279.1	+	0	384					NR_026706.1																						aaggaagcaaaggaggaggagga	0.384													2	4	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14284599	14284600	+	RNA	DEL	TA	TA	-	rs34480564		TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr11:14284599_14284600delTA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGGACCTGTTTaaaaaaaaaaa	0.465													2	4	---	---	---	---					
NUMA1	0	broad.mit.edu	37	11	71719830	71719830	+	Frame_Shift_Del	DEL	A	A	-	rs139169825	byFrequency	TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr11:71719830delA	ENST00000393695.3	-	20	5451	c.5120delT	c.(5119-5121)ttafs	p.L1707fs	NUMA1_ENST00000358965.6_Frame_Shift_Del_p.L1693fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.L571fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1707					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACGGCTCTTTAAAGCATCAGT	0.577			T	RARA	APL								15	66	---	---	---	---					
NARG2	79664	broad.mit.edu	37	15	60741602	60741602	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr15:60741602delT	ENST00000261520.4	-	10	1798	c.1564delA	c.(1564-1566)attfs	p.I522fs	NARG2_ENST00000439632.1_Frame_Shift_Del_p.I385fs	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	522						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GAAGTTTCAATTTCCTGAGAA	0.313													15	98	---	---	---	---					
ZNF615	284370	broad.mit.edu	37	19	52496378	52496378	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:52496378delA	ENST00000602063.1	-	6	2300	c.1951delT	c.(1951-1953)tccfs	p.S651fs	ZNF615_ENST00000391795.3_Frame_Shift_Del_p.S656fs|ZNF615_ENST00000594083.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000376716.5_Frame_Shift_Del_p.S651fs|ZNF615_ENST00000598071.1_Frame_Shift_Del_p.S662fs			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATGCAAAGGAAGTCTTTCCT	0.388													19	178	---	---	---	---					
